Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Chromosomes, Human, Pair 1"" wg kryterium: Temat


Tytuł :
Duplication 1q is highly correlated with poor prognosis in high hyperdiploid pediatric B-acute lymphoblastic leukemia.
Autorzy :
El Ashry MS; Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Elsayed GM; Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Madney Y; Pediatric Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Arafah O; Pediatric Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Allam RM; Biostatistics and Cancer Epidemiology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Rasekh EO; Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Pokaż więcej
Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2021 Apr; Vol. 43 (2), pp. 235-243. Date of Electronic Publication: 2020 Oct 19.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 1*
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*mortality
Adolescent ; Biomarkers ; Child ; Child, Preschool ; Chromosome Aberrations ; Cytogenetic Analysis ; Egypt/epidemiology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/epidemiology ; Prognosis ; Proportional Hazards Models ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
A Scalable Computational Approach for Simulating Complexes of Multiple Chromosomes.
Autorzy :
Oliveira Junior AB; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; ICTP South American Institute for Fundamental Research, Instituto de Física Teórica, UNESP - 01140-070, São Paulo, SP, Brazil. Electronic address: .
Contessoto VG; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; Instituto de Biociências, Letras e Ciências Exatas, UNESP - Univ. Estadual Paulista, Departamento de Física, São José do Rio Preto, SP, Brazil. Electronic address: .
Mello MF; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; Chemical Engineering Department, Military Institute of Engineering, Rio de Janeiro, RJ, Brazil.
Onuchic JN; Center for Theoretical Biological Physics, Rice University, Houston, TX, USA; ICTP South American Institute for Fundamental Research, Instituto de Física Teórica, UNESP - 01140-070, São Paulo, SP, Brazil. Electronic address: .
Pokaż więcej
Źródło :
Journal of molecular biology [J Mol Biol] 2021 Mar 19; Vol. 433 (6), pp. 166700. Date of Electronic Publication: 2020 Nov 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Molecular Dynamics Simulation*
Software*
Chromatin/*chemistry
Chromosomes, Human, Pair 1/*chemistry
Chromosomes, Human, Pair 2/*chemistry
Chromosomes, Human, Pair 3/*chemistry
Chromosomes, Human, Pair 4/*chemistry
Animals ; Cell Line, Tumor ; Chromatin/metabolism ; Chromatin/ultrastructure ; Chromosomes, Human, Pair 1/metabolism ; Chromosomes, Human, Pair 1/ultrastructure ; Chromosomes, Human, Pair 2/metabolism ; Chromosomes, Human, Pair 2/ultrastructure ; Chromosomes, Human, Pair 3/metabolism ; Chromosomes, Human, Pair 3/ultrastructure ; Chromosomes, Human, Pair 4/metabolism ; Chromosomes, Human, Pair 4/ultrastructure ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Humans ; Lymphocytes/cytology ; Lymphocytes/metabolism ; Saccharum/genetics ; Saccharum/metabolism ; Thermodynamics ; Triticum/genetics ; Triticum/metabolism
Czasopismo naukowe
Tytuł :
Age Dependency of the Prognostic Impact of Tumor Genomics in Localized Resectable MYCN -Nonamplified Neuroblastomas. Report From the SIOPEN Biology Group on the LNESG Trials and a COG Validation Group.
Autorzy :
Ambros IM; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.
Tonini GP; Paediatric Research Institute, Fondazione Città della Speranza, Neuroblastoma Laboratory, Padua, Italy.
Pötschger U; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.
Gross N; Pediatric Oncology Research, Department of Pediatrics, University Hospital, Lausanne, Switzerland.
Mosseri V; Service de Biostatistiques, Institut Curie, Paris, France.
Beiske K; Department of Pathology, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Berbegall AP; Department of Pathology, Medical School, University of Valencia-Fundación de Investigación del Hospital Clínico Universitario de Valencia, Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain.
Bénard J; Département de Biologie et de Pathologie Médicales, Service de Pathologie Moléculaire, Institut Gustave Roussy, Villejuif, France.
Bown N; Northern Genetics Service, Newcastle upon Tyne, United Kingdom.
Caron H; Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, the Netherlands.
Combaret V; Centre Léon Bérard, Laboratoire de Recherche Translationnelle, Lyon, France.
Couturier J; Unité de Génétique Somatique et Cytogénétique, Institut Curie, Paris, France.
Defferrari R; Department of Pathology, Istituto G. Gaslini, Genoa, Italy.
Delattre O; INSERM U830, Laboratoire de Génétique et Biologie des Cancers, Paris, France.
Jeison M; Ca-Cytogenetic Laboratory, Pediatric Hematology Oncology Department, Schneider Children's Medical Center of Israel, Petah Tikvah, Israel.
Kogner P; Childhood Cancer Research Unit, Karolinska Institutet, Astrid Lindgren Children's Hospital, Stockholm, Sweden.
Lunec J; Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
Marques B; Centro de Genética Humana, Instituto Nacional de Saude doutor Ricardo Jorge, Lisbon, Portugal.
Martinsson T; Department of Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Göteborg, Sweden.
Mazzocco K; Department of Pathology, Istituto G. Gaslini, Genoa, Italy.
Noguera R; Department of Pathology, Medical School, University of Valencia-Fundación de Investigación del Hospital Clínico Universitario de Valencia, Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain.
Schleiermacher G; INSERM U830, Laboratoire de Génétique et Biologie des Cancers, Paris, France.; Département de Pédiatrie, Institut Curie, Paris, France.
Valent A; Département de Biologie et de Pathologie Médicales, Service de Pathologie Moléculaire, Institut Gustave Roussy, Villejuif, France.
Van Roy N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Villamon E; Department of Pathology, Medical School, University of Valencia-Fundación de Investigación del Hospital Clínico Universitario de Valencia, Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain.
Janousek D; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.
Pribill I; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.
Glogova E; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.
Attiyeh EF; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Hogarty MD; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Monclair TF; Section for Paediatric Surgery, Division of Surgery, Rikshospitalet University Hospital, Oslo, Norway.
Holmes K; Department of Paediatric Surgery, St George's Hospital, London, UK.
Valteau-Couanet D; Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Villejuif, France.
Castel V; Unidad de Oncologia Pediatrica Hospital Universitario La Fe, Valencia, Spain.
Tweddle DA; Wolfson Childhood Cancer Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
Park JR; Seattle Children's Hospital and University of Washington School of Medicine, Seattle, WA.
Cohn S; Department of Pediatrics, The University of Chicago, Chicago, IL.
Ladenstein R; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.; Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
Beck-Popovic M; Pediatric Hematology Oncology Unit, University Hospital of Lausanne, Lausanne, Switzerland.
De Bernardi B; Department of Paediatric Haematology and Oncology, Giannina Gaslini Children's Hospital, Genova, Italy.
Michon J; Département de Pédiatrie, Institut Curie, Paris, France.
Pearson ADJ; Institute of Cancer Research, Royal Marsden Hospital, Sutton, Surrey, United Kingdom.
Ambros PF; Children's Cancer Research Institute, St Anna Kinderkrebsforschung, Vienna, Austria.; Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
Pokaż więcej
Źródło :
Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2020 Nov 01; Vol. 38 (31), pp. 3685-3697. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 11*
N-Myc Proto-Oncogene Protein/*genetics
Neuroblastoma/*genetics
Age Factors ; Clinical Trials as Topic ; Diploidy ; Gene Amplification ; Genomics ; Humans ; Infant ; Neoplasm Staging ; Neuroblastoma/pathology ; Neuroblastoma/surgery ; Prognosis ; Progression-Free Survival ; Survival Rate
Czasopismo naukowe
Tytuł :
Acute megakaryoblastic leukaemia with t(1;22)(p13·3;q13·1)/RBM15-MKL1 in an adult patient following a non-mediastinal germ cell tumour.
Autorzy :
Saito Y; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.; Department of Hematopoietic Stem Cell Transplantation, National Cancer Center Hospital, Tokyo, Japan.; Department of Pathology, National Cancer Center Hospital, Tokyo, Japan.
Makita S; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Chinen S; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Kito M; Department of Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.
Fujino T; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Ida H; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Hosoba R; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Tanaka T; Department of Hematopoietic Stem Cell Transplantation, National Cancer Center Hospital, Tokyo, Japan.
Fukuhara S; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Munakata W; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan.
Suzuki T; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan.
Maruyama D; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
Miyagi-Maeshima A; Department of Pathology, National Cancer Center Hospital, Tokyo, Japan.
Matsushita H; Department of Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.
Izutsu K; Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan.
Pokaż więcej
Źródło :
British journal of haematology [Br J Haematol] 2020 Sep; Vol. 190 (6), pp. e329-e332. Date of Electronic Publication: 2020 Jun 23.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Chromosomes, Human, Pair 1*/genetics
Chromosomes, Human, Pair 1*/metabolism
Chromosomes, Human, Pair 22*/genetics
Chromosomes, Human, Pair 22*/metabolism
Leukemia, Megakaryoblastic, Acute*/genetics
Leukemia, Megakaryoblastic, Acute*/metabolism
Leukemia, Megakaryoblastic, Acute*/pathology
Neoplasms, Germ Cell and Embryonal*/genetics
Neoplasms, Germ Cell and Embryonal*/metabolism
Neoplasms, Germ Cell and Embryonal*/pathology
Neoplasms, Second Primary*/genetics
Neoplasms, Second Primary*/metabolism
Neoplasms, Second Primary*/pathology
Oncogene Proteins, Fusion*/genetics
Oncogene Proteins, Fusion*/metabolism
Retroperitoneal Neoplasms*/genetics
Retroperitoneal Neoplasms*/metabolism
Retroperitoneal Neoplasms*/pathology
Translocation, Genetic*
Adult ; Humans ; Male
Raport
Tytuł :
A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups.
Autorzy :
Ritzmann TA; Children's Brain Tumor Research Centre, School of Medicine, University of Nottingham, Nottingham, UK.
Rogers HA; Children's Brain Tumor Research Centre, School of Medicine, University of Nottingham, Nottingham, UK.
Paine SML; Department of Neuropathology, Nottingham University Hospital, Nottingham, UK.
Storer LCD; Children's Brain Tumor Research Centre, School of Medicine, University of Nottingham, Nottingham, UK.
Jacques TS; Developmental Biology and Cancer Programme, UCL GOS Institute of Child Health and Department of Histopathology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Chapman RJ; Children's Brain Tumor Research Centre, School of Medicine, University of Nottingham, Nottingham, UK.
Ellison D; Department of Pathology, St Jude Children's Hospital, Memphis, Tennessee.
Donson AM; Department of Pediatrics, University of Colorado, Denver, Aurora, Colorado.
Foreman NK; Department of Pediatrics, University of Colorado, Denver, Aurora, Colorado.
Grundy RG; Children's Brain Tumor Research Centre, School of Medicine, University of Nottingham, Nottingham, UK.
Pokaż więcej
Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2020 Sep; Vol. 67 (9), pp. e28426. Date of Electronic Publication: 2020 Jul 02.
Typ publikacji :
Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Neoplasms*/genetics
Brain Neoplasms*/metabolism
Brain Neoplasms*/mortality
Brain Neoplasms*/therapy
Chromosomes, Human, Pair 1*/genetics
Chromosomes, Human, Pair 1*/metabolism
DNA Methylation*
DNA, Neoplasm*/genetics
DNA, Neoplasm*/metabolism
Ependymoma*/genetics
Ependymoma*/metabolism
Ependymoma*/mortality
Ependymoma*/therapy
Neoplasm Recurrence, Local*/genetics
Neoplasm Recurrence, Local*/metabolism
Neoplasm Recurrence, Local*/mortality
Neoplasm Recurrence, Local*/therapy
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Retrospective Studies ; Risk Factors
Czasopismo naukowe
Tytuł :
Giant Cell Tumor of Tendon Sheath With a t(1;1)(p13;p34) Chromosomal Translocation.
Autorzy :
Nakayama S; Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Nishio J; Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan .
Nakatani K; Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Nabeshima K; Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Yamamoto T; Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Pokaż więcej
Źródło :
Anticancer research [Anticancer Res] 2020 Aug; Vol. 40 (8), pp. 4373-4377.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Translocation, Genetic*
Giant Cell Tumor of Tendon Sheath/*genetics
Aged ; Biopsy, Needle ; Giant Cell Tumor of Tendon Sheath/diagnostic imaging ; Giant Cell Tumor of Tendon Sheath/pathology ; Humans ; Magnetic Resonance Imaging ; Male
Czasopismo naukowe
Tytuł :
Globular C1q Receptor (gC1qR/p32/HABP1) Suppresses the Tumor-Inhibiting Role of C1q and Promotes Tumor Proliferation in 1q21-Amplified Multiple Myeloma.
Autorzy :
Xu J; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Sun Y; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Jiang J; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Xu Z; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Li J; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Xu T; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Liu P; Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Pokaż więcej
Źródło :
Frontiers in immunology [Front Immunol] 2020 Jul 14; Vol. 11, pp. 1292. Date of Electronic Publication: 2020 Jul 14 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Gene Amplification*
Carrier Proteins/*metabolism
Complement C1q/*immunology
Mitochondrial Proteins/*metabolism
Multiple Myeloma/*genetics
Multiple Myeloma/*immunology
Adult ; Aged ; Bone Marrow/pathology ; Cell Line, Tumor ; Cell Proliferation ; Complement C1q/metabolism ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Immunophenotyping ; Male ; Middle Aged ; Multiple Myeloma/mortality ; Multiple Myeloma/pathology ; Prognosis
Czasopismo naukowe
Tytuł :
Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.
Autorzy :
Yoon J; Department of Biology, Eberly College of Science, Pennsylvania State University, University Park, PA 16802, USA.
Mao Y; Department of Biology, Eberly College of Science, Pennsylvania State University, University Park, PA 16802, USA.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 May 28; Vol. 22 (11). Date of Electronic Publication: 2021 May 28.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
Abnormalities, Multiple/*genetics
DNA Copy Number Variations/*genetics
Megalencephaly/*genetics
Mental Disorders/*genetics
Autism Spectrum Disorder/genetics ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 1/genetics ; Genome-Wide Association Study ; Humans ; Microcephaly/genetics ; Neurodegenerative Diseases/genetics ; Neurodevelopmental Disorders/genetics ; Schizophrenia/genetics
SCR Disease Name :
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Czasopismo naukowe
Tytuł :
MGMT promoter methylation is associated with patient age and 1p/19q status in IDH-mutant gliomas.
Autorzy :
Horbinski C; Department of Pathology, Northwestern University, Chicago, Illinois, USA.; Department of Neurological Surgery, Northwestern University, Chicago, Illinois, USA.
McCortney K; Department of Neurological Surgery, Northwestern University, Chicago, Illinois, USA.
Stupp R; Department of Neurological Surgery, Northwestern University, Chicago, Illinois, USA.; Department of Neurology, Northwestern University, Chicago, Illinois, USA.; Department of Medicine, Northwestern University, Chicago, Illinois, USA.
Pokaż więcej
Źródło :
Neuro-oncology [Neuro Oncol] 2021 May 05; Vol. 23 (5), pp. 858-860.
Typ publikacji :
Letter; Research Support, N.I.H., Extramural
MeSH Terms :
Brain Neoplasms*/genetics
Glioma*/genetics
Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19 ; DNA Modification Methylases/genetics ; DNA Repair Enzymes/genetics ; Humans ; Infant ; Isocitrate Dehydrogenase/genetics ; Methylation ; Mutation ; Promoter Regions, Genetic/genetics ; Tumor Suppressor Proteins/genetics
Raport
Tytuł :
Transcription factor networks of oligodendrogliomas treated with adjuvant radiotherapy or observation inform prognosis.
Autorzy :
So J; Radiation Medicine Program, Princess Margaret Cancer Center, University of Toronto, Toronto, Ontario, Canada.
Mamatjan Y; Department of Laboratory Medicine and Pathobiology, Princess Margaret Cancer Centre, University of Toronto and MacFeeters-Hamilton Centre for Neuro-Oncology Research, Toronto, Ontario, Canada.
Zadeh G; Department of Laboratory Medicine and Pathobiology, Princess Margaret Cancer Centre, University of Toronto and MacFeeters-Hamilton Centre for Neuro-Oncology Research, Toronto, Ontario, Canada.; Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Aldape K; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Moraes FY; Department of Radiation Oncology, Kingston General Hospital, Queen's University, Kingston, Ontario, Canada.
Pokaż więcej
Źródło :
Neuro-oncology [Neuro Oncol] 2021 May 05; Vol. 23 (5), pp. 795-802.
Typ publikacji :
Journal Article
MeSH Terms :
Brain Neoplasms*/genetics
Brain Neoplasms*/radiotherapy
Oligodendroglioma*/genetics
Oligodendroglioma*/radiotherapy
Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 19 ; Humans ; Isocitrate Dehydrogenase/genetics ; Mutation ; Prognosis ; Radiotherapy, Adjuvant ; Transcription Factors
Czasopismo naukowe
Tytuł :
A special type of chromosome 1 abnormality in myelodysplastic syndrome patients: duplication 1q.
Autorzy :
Yu Y; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Zhang T; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Zeng Z; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Wang Q; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Hong Y; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Shen H; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Wu D; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.; Institute of Blood and Marrow Transplantation, Soochow University, Suzhou, P.R. China.; NHC Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, P.R. China.
Pan J; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Chen S; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.
Sun A; Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, P.R. China.; Institute of Blood and Marrow Transplantation, Soochow University, Suzhou, P.R. China.
Pokaż więcej
Źródło :
British journal of haematology [Br J Haematol] 2020 Jun; Vol. 189 (5), pp. e218-e221. Date of Electronic Publication: 2020 Apr 16.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Trisomy*
Chromosomes, Human, Pair 1/*ultrastructure
Myelodysplastic Syndromes/*genetics
Abnormal Karyotype ; Adult ; Age Factors ; Aged ; China ; Chromosomes, Human, Pair 1/genetics ; Clone Cells/ultrastructure ; Female ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Myelodysplastic Syndromes/mortality ; Nuclear Proteins/genetics ; Risk ; Translocation, Genetic ; Young Adult
Raport
Tytuł :
Chromosomal region 1q24.1 is associated with increased risk of schizophrenia in Pakistani population.
Autorzy :
Fatima W; Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan. Electronic address: .
Riaz S; Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Aiman Shahzad M; Department of Allied Health Sciences, University of Health Sciences, Lahore, Pakistan.
Naz Z; Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Mahmood S; Department of Allied Health Sciences, University of Health Sciences, Lahore, Pakistan.
Hasnain S; Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Pokaż więcej
Źródło :
Gene [Gene] 2020 Apr 15; Vol. 734, pp. 144390. Date of Electronic Publication: 2020 Jan 24.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Schizophrenia/*genetics
Adult ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Pakistan
Czasopismo naukowe
Tytuł :
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.
Autorzy :
Pelle A; Department of Clinical and Biological Sciences, University of Torino, AOU Città della salute e della scienza di Torino, Torino.; Pediatric Unit.
Modena P; SOS-ID Laboratory of Medical Genetics, A.S.S.T. Lariana Sant'Anna Hospital, San Fermo della Battaglia, Como.
Cavallini A; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Selicorni A; Pediatric Unit.
Pokaż więcej
Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 97-100.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Haploinsufficiency/*genetics
Microcephaly/*diagnosis
Microcephaly/*genetics
Proto-Oncogene Proteins c-akt/*genetics
Psychomotor Disorders/*diagnosis
Psychomotor Disorders/*genetics
Child, Preschool ; Comparative Genomic Hybridization ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male
Czasopismo naukowe
Tytuł :
Gene signatures associated with genomic aberrations predict prognosis in neuroblastoma.
Autorzy :
He X; Center for Clinical Molecular Medicine, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, 400014, P. R. China.; Department of Biomedical Data Science, Geisel School of Medicine at Dartmouth, Lebanon, NH, 03766, USA.
Qin C; Beijing Key Lab of Traffic Data Analysis and Mining, School of Computer and Information Technology, Beijing Jiaotong University, Beijing, 100044, P. R. China.; Department of Biomedical Data Science, Geisel School of Medicine at Dartmouth, Lebanon, NH, 03766, USA.
Zhao Y; Department of Biomedical Data Science, Geisel School of Medicine at Dartmouth, Lebanon, NH, 03766, USA.
Zou L; Center for Clinical Molecular Medicine, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, 400014, P. R. China.
Zhao H; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, 999077, P. R. China.
Cheng C; Department of Biomedical Data Science, Geisel School of Medicine at Dartmouth, Lebanon, NH, 03766, USA.; Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.; Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, 77030, USA.
Pokaż więcej
Źródło :
Cancer communications (London, England) [Cancer Commun (Lond)] 2020 Mar; Vol. 40 (2-3), pp. 105-118.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 11*
N-Myc Proto-Oncogene Protein/*genetics
Neuroblastoma/*genetics
Adolescent ; Child ; Child, Preschool ; Female ; Gene Amplification ; Genomics ; Humans ; Infant ; Infant, Newborn ; Male ; Neuroblastoma/mortality ; Prognosis
Czasopismo naukowe
Tytuł :
PI4KIIIβ is a therapeutic target in chromosome 1q-amplified lung adenocarcinoma.
Autorzy :
Tan X; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Banerjee P; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Pham EA; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Rutaganira FUN; Howard Hughes Medical Institute and Department of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA 94143, USA.
Basu K; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Bota-Rabassedas N; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Guo HF; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Grzeskowiak CL; Department of Molecular and Human Genetics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Medicine, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.
Liu X; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Yu J; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Shi L; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Peng DH; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Rodriguez BL; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Zhang J; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Zheng V; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Duose DY; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Solis LM; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Mino B; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Raso MG; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Behrens C; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Wistuba II; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Scott KL; Department of Molecular and Human Genetics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Medicine, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.
Smith M; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA.; Stanford ChEM-H Medicinal Chemistry Knowledge Center, Stanford University, CA 94305, USA.
Nguyen K; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Lam G; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Choong I; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Mazumdar A; Department of Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Hill JL; Department of Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Gibbons DL; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Brown PH; Department of Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Russell WK; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX 77555, USA.
Shokat K; Howard Hughes Medical Institute and Department of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA 94143, USA.
Creighton CJ; Department of Medicine, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA. .; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Glenn JS; Departments of Medicine and Microbiology & Immunology, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA. .; Veterans Administration Medical Center, Palo Alto, CA 94304, USA.
Kurie JM; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. .
Pokaż więcej
Źródło :
Science translational medicine [Sci Transl Med] 2020 Jan 22; Vol. 12 (527).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Adenocarcinoma of Lung/*metabolism
Chromosomes, Human, Pair 1/*metabolism
Phosphotransferases (Alcohol Group Acceptor)/*metabolism
Adenocarcinoma of Lung/genetics ; Animals ; Chromosomes, Human, Pair 1/genetics ; Enzyme-Linked Immunosorbent Assay ; Golgi Apparatus/metabolism ; Humans ; In Vitro Techniques ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; Phosphotransferases (Alcohol Group Acceptor)/antagonists & inhibitors ; X-Ray Microtomography
Czasopismo naukowe
Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Translocation t(1;19)(q23;p13) in adult acute lymphoblastic leukemia - a distinct subtype with favorable prognosis.
Autorzy :
Yilmaz M; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Kantarjian HM; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Toruner G; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Yin CC; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Kanagal-Shamanna R; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Cortes JE; Georgia Cancer Center, Augusta University, Augusta, GA, USA.
Issa G; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Short NJ; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Khoury JD; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Garcia-Manero G; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Ravandi F; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Kadia T; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Konopleva M; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Wierda WG; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jain N; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Estrov Z; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Sasaki K; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Pierce S; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
O'Brien SM; Chao Family Comprehensive Cancer Center, University of California Irvine, Orange, CA, USA.
Jabbour EJ; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Pokaż więcej
Źródło :
Leukemia & lymphoma [Leuk Lymphoma] 2021 Jan; Vol. 62 (1), pp. 224-228. Date of Electronic Publication: 2020 Sep 21.
Typ publikacji :
Journal Article
MeSH Terms :
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/epidemiology
Adult ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19/genetics ; Humans ; Oncogene Proteins, Fusion/genetics ; Prognosis ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Noninvasive Determination of IDH and 1p19q Status of Lower-grade Gliomas Using MRI Radiomics: A Systematic Review.
Autorzy :
Bhandari AP; From the Department of Anatomy (A.P.B.) .; Townsville University Hospital (A.P.B., J.K.), Douglas, Queensland, Australia.
Liong R; Department of Medical Imaging Research Office (R.L.), Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
Koppen J; Townsville University Hospital (A.P.B., J.K.), Douglas, Queensland, Australia.
Murthy SV; College of Medicine and Dentistry (S.V.M.), James Cook University, Townsville, Queensland, Australia.
Lasocki A; Department of Cancer Imaging (A.L.), Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology (A.L.), The University of Melbourne, Melbourne, Victoria, Australia.
Pokaż więcej
Źródło :
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2021 Jan; Vol. 42 (1), pp. 94-101. Date of Electronic Publication: 2020 Nov 26.
Typ publikacji :
Journal Article; Systematic Review
MeSH Terms :
Machine Learning*
Brain Neoplasms/*diagnosis
Chromosomes, Human, Pair 1/*genetics
Glioma/*diagnosis
Isocitrate Dehydrogenase/*genetics
Adult ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Female ; Glioma/genetics ; Glioma/pathology ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Mutation
Czasopismo naukowe
Tytuł :
Gain of Chromosome 1q is associated with early progression in multiple myeloma patients treated with lenalidomide, bortezomib, and dexamethasone.
Autorzy :
Schmidt TM; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Barwick BG; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Joseph N; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Heffner LT; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Hofmeister CC; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Bernal L; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Dhodapkar MV; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Gupta VA; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Jaye DL; Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA.
Wu J; Department of Biostatistics & Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Goyal S; Department of Biostatistics & Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Chen Z; Department of Biostatistics & Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Boise LH; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Lonial S; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Nooka AK; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA.
Kaufman JL; Winship Cancer Institute, Department of Hematology and Medical Oncology, Emory University, Atlanta, GA, USA. .
Pokaż więcej
Źródło :
Blood cancer journal [Blood Cancer J] 2019 Nov 25; Vol. 9 (12), pp. 94. Date of Electronic Publication: 2019 Nov 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 1*
Multiple Myeloma/*genetics
Multiple Myeloma/*pathology
Aged ; Aged, 80 and over ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bortezomib/administration & dosage ; DNA Copy Number Variations ; Dexamethasone/administration & dosage ; Disease Progression ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; Kaplan-Meier Estimate ; Lenalidomide/administration & dosage ; Male ; Middle Aged ; Multiple Myeloma/drug therapy ; Multiple Myeloma/mortality ; Prognosis ; Proportional Hazards Models ; Treatment Outcome
Czasopismo naukowe
Tytuł :
A case of hidradenitis suppurativa linked to trisomy 1q.
Autorzy :
Skroza N; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Mambrin A; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Tolino E; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Bernardini N; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Proietti I; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Anzalone A; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Marchesiello A; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Porta N; Department of Medical-Surgical Sciences and Biotechnologies, Pathological Unit, Sapienza University of Rome, I.C.O.T. Hospital, Latina, Italy.
Petrozza V; Department of Medical-Surgical Sciences and Biotechnologies, Pathological Unit, Sapienza University of Rome, I.C.O.T. Hospital, Latina, Italy.
Potenza C; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Pokaż więcej
Źródło :
Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2019 Oct; Vol. 33 Suppl 6, pp. 32-33.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Trisomy*
Hidradenitis Suppurativa/*genetics
Abnormalities, Multiple/genetics ; Adult ; Chromosomes, Human, Pair 13 ; Female ; Humans
Czasopismo naukowe
Tytuł :
Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.
Autorzy :
Musolf AM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.
Ho WSC; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Long KA; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.
Zhuang Z; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Argersinger DP; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Sun H; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Moiz BA; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.
Simpson CL; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.; Department of Genetics, Genomics, and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Mendelevich EG; Department of Neurology and Rehab, Kazan State Medical University, Kazan, Russia.
Bogdanov EI; Department of Neurology and Rehab, Kazan State Medical University, Kazan, Russia.
Bailey-Wilson JE; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.
Heiss JD; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. .
Pokaż więcej
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Oct; Vol. 27 (10), pp. 1599-1610. Date of Electronic Publication: 2019 Jun 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 12*
Genome-Wide Association Study*/methods
Phenotype*
Arnold-Chiari Malformation/*diagnosis
Arnold-Chiari Malformation/*genetics
Computational Biology/methods ; Cranial Fossa, Posterior/abnormalities ; Female ; Genetic Linkage ; Genotype ; Humans ; Lod Score ; Magnetic Resonance Imaging ; Male ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
An acquired high-risk chromosome instability phenotype in multiple myeloma: Jumping 1q Syndrome.
Autorzy :
Sawyer JR; Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA. .; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA. .
Tian E; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Walker BA; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Wardell C; Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Lukacs JL; Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Sammartino G; Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Bailey C; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Schinke CD; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Thanendrarajan S; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Davies FE; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Morgan GJ; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Barlogie B; Department of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Zangari M; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
van Rhee F; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Pokaż więcej
Źródło :
Blood cancer journal [Blood Cancer J] 2019 Aug 09; Vol. 9 (8), pp. 62. Date of Electronic Publication: 2019 Aug 09.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomal Instability*
Chromosomes, Human, Pair 1*
Translocation, Genetic*
Multiple Myeloma/*genetics
Disease Progression ; Humans ; In Situ Hybridization, Fluorescence/methods ; Multiple Myeloma/diagnosis ; Multiple Myeloma/pathology ; Prognosis ; Syndrome
Czasopismo naukowe
Tytuł :
Lack of H3K27 trimethylation is associated with 1p/19q codeletion in diffuse gliomas.
Autorzy :
Filipski K; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany.; German Cancer Consortium (DKTK), Partner Site Frankfurt/Mainz, Heidelberg, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Braun Y; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany.
Zinke J; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany.
Roller B; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany.
Baumgarten P; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany.; Department of Neurosurgery, University Hospital, Frankfurt Am Main, Germany.
Wagner M; Institute of Neuroradiology, University Hospital, Frankfurt Am Main, Germany.
Senft C; Department of Neurosurgery, University Hospital, Frankfurt Am Main, Germany.
Zeiner PS; Department of Neurology, University Hospital, Frankfurt Am Main, Germany.; Dr. Senckenberg Institute of Neurooncology, University Hospital, Frankfurt Am Main, Germany.
Ronellenfitsch MW; Department of Neurology, University Hospital, Frankfurt Am Main, Germany.; Dr. Senckenberg Institute of Neurooncology, University Hospital, Frankfurt Am Main, Germany.; Frankfurt Cancer Institute (FCI), Frankfurt Am Main, Germany.
Steinbach JP; Department of Neurology, University Hospital, Frankfurt Am Main, Germany.; Dr. Senckenberg Institute of Neurooncology, University Hospital, Frankfurt Am Main, Germany.; Frankfurt Cancer Institute (FCI), Frankfurt Am Main, Germany.
Plate KH; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany.; German Cancer Consortium (DKTK), Partner Site Frankfurt/Mainz, Heidelberg, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.; Frankfurt Cancer Institute (FCI), Frankfurt Am Main, Germany.
Gasparoni G; Department of Genetics, University of Saarland, Campus A2 4, Saarbrücken, Germany.
Mittelbronn M; Luxembourg Centre of Neuropathology (LCNP), Luxembourg City, Luxembourg.; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg City, Luxembourg.; Laboratoire National de Santé (LNS), Dudelange, Luxembourg.; NORLUX Neuro-Oncology Laboratory, Luxembourg Institute of Health (LIH), Luxembourg, Luxembourg.
Capper D; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.; Department of Neuropathology, Berlin Institute of Health, Berlin, Germany.; German Cancer Consortium (DKTK), Partner Site Berlin, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Harter PN; Institute of Neurology, (Edinger Institute), University Hospital, Frankfurt Am Main, Germany. .; German Cancer Consortium (DKTK), Partner Site Frankfurt/Mainz, Heidelberg, Germany. .; German Cancer Research Center (DKFZ), Heidelberg, Germany. .; Frankfurt Cancer Institute (FCI), Frankfurt Am Main, Germany. .
Pokaż więcej
Źródło :
Acta neuropathologica [Acta Neuropathol] 2019 Aug; Vol. 138 (2), pp. 331-334. Date of Electronic Publication: 2019 May 07.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Histone Code*
Brain Neoplasms/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 19/*genetics
Glioma/*genetics
Histones/*metabolism
Brain Neoplasms/mortality ; Brain Neoplasms/pathology ; Chromosomes, Human, Pair 1/ultrastructure ; Chromosomes, Human, Pair 19/ultrastructure ; DNA Methylation ; DNA, Neoplasm/genetics ; Glioma/mortality ; Glioma/pathology ; Humans ; Isocitrate Dehydrogenase/genetics ; Kaplan-Meier Estimate ; Neoplasm Proteins/genetics ; Prognosis
Raport
Tytuł :
Polymorphisms rs693421 and rs2499601 at locus 1q43 and their haplotypes are not associated with primary open-angle glaucoma: a case-control study.
Autorzy :
Kondkar AA; Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia. .; Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. .
Azad TA; Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.
Sultan T; Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.
Al-Mobarak FA; Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.; Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Kalantan H; Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.
Al-Obeidan SA; Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.; Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Pokaż więcej
Źródło :
BMC research notes [BMC Res Notes] 2019 Jul 23; Vol. 12 (1), pp. 453. Date of Electronic Publication: 2019 Jul 23.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Genetic Loci*
Haplotypes*
Polymorphism, Genetic*
Glaucoma, Open-Angle/*genetics
Adult ; Aged ; Alleles ; Case-Control Studies ; Female ; Gene Frequency ; Glaucoma, Open-Angle/diagnosis ; Glaucoma, Open-Angle/pathology ; Humans ; Intraocular Pressure ; Linkage Disequilibrium ; Male ; Middle Aged ; Models, Genetic ; Odds Ratio ; Retrospective Studies ; Tonometry, Ocular
Czasopismo naukowe
Tytuł :
Co-polysomy of 1p/19q in glial tumors: Retrospective analysis of 221 cases from single center.
Autorzy :
Kuskucu A; Department of Medical Genetics, Yeditepe University Medical School, 34755 Istanbul, Turkey.
Tuysuz EC; Department of Medical Genetics, Yeditepe University Medical School, 34755 Istanbul, Turkey; Department of Biotechnology, Institute of Science, Yeditepe University, 34755 Istanbul, Turkey.
Gurkan S; Department of Medical Genetics, Yeditepe University Medical School, 34755 Istanbul, Turkey.
Demir Z; Department of Medical Genetics, Yeditepe University Medical School, 34755 Istanbul, Turkey.
Yaltirik CK; Department of Neurosurgery, Yeditepe University Medical School, Yeditepe University, 34755 Istanbul, Turkey.
Ozkan F; Department of Medical Pathology, Yeditepe University Medical School, Yeditepe University, 34755 Istanbul, Turkey.
Ekici ID; Department of Medical Pathology, Yeditepe University Medical School, Yeditepe University, 34755 Istanbul, Turkey.
Bayrak OF; Department of Medical Genetics, Yeditepe University Medical School, 34755 Istanbul, Turkey. Electronic address: .
Ture U; Department of Neurosurgery, Yeditepe University Medical School, Yeditepe University, 34755 Istanbul, Turkey. Electronic address: .
Pokaż więcej
Źródło :
Gene [Gene] 2019 Jun 15; Vol. 701, pp. 161-168. Date of Electronic Publication: 2019 Mar 05.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Biomarkers, Tumor*/biosynthesis
Biomarkers, Tumor*/genetics
Brain Neoplasms*/genetics
Brain Neoplasms*/metabolism
Brain Neoplasms*/mortality
Brain Neoplasms*/pathology
Chromosome Aberrations*
Chromosomes, Human, Pair 1*/genetics
Chromosomes, Human, Pair 1*/metabolism
Gene Expression Regulation, Neoplastic*
Neoplasm Proteins*/biosynthesis
Neoplasm Proteins*/genetics
Oligodendroglioma*/genetics
Oligodendroglioma*/metabolism
Oligodendroglioma*/mortality
Oligodendroglioma*/pathology
Adult ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Survival Rate
Czasopismo naukowe
Tytuł :
1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization.
Autorzy :
Dafir K; Genetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.; School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakesh, Morocco.
Bouzid FZ; Genetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.; School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakesh, Morocco.
Mansouri M; Genetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.
Aboussair N; Genetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.; School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakesh, Morocco.
Pokaż więcej
Źródło :
The Pan African medical journal [Pan Afr Med J] 2020 Dec 16; Vol. 37, pp. 349. Date of Electronic Publication: 2020 Dec 16 (Print Publication: 2020).
Typ publikacji :
Case Reports
MeSH Terms :
In Situ Hybridization, Fluorescence*
Chromosome Disorders/*diagnosis
Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; Chromosomes, Human, Pair 1 ; Comparative Genomic Hybridization ; Female ; Humans ; Morocco
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Raport
Tytuł :
Macular retinal thickness differs markedly in age-related macular degeneration driven by risk polymorphisms on chromosomes 1 and 10.
Autorzy :
Zouache MA; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA. .
Bennion A; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Hageman JL; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Pappas C; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Richards BT; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Hageman GS; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2020 Dec 03; Vol. 10 (1), pp. 21093. Date of Electronic Publication: 2020 Dec 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Single Nucleotide*
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 10/*genetics
Macular Degeneration/*genetics
Retina/*diagnostic imaging
Aged ; Aged, 80 and over ; Complement Factor H/genetics ; Complement System Proteins/genetics ; Female ; High-Temperature Requirement A Serine Peptidase 1/genetics ; Humans ; Macular Degeneration/diagnostic imaging ; Male ; Middle Aged ; Proteins/genetics
Czasopismo naukowe
Tytuł :
The prognostic value of additional copies of 1q21 in multiple myeloma depends on the primary genetic event.
Autorzy :
Locher M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Steurer M; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.
Jukic E; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Keller MA; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Fresser F; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Ruepp C; Department of Internal Medicine, St. Vinzenz Krankenhaus Betriebs GmbH, Zams, Austria.
Wöll E; Department of Internal Medicine, St. Vinzenz Krankenhaus Betriebs GmbH, Zams, Austria.
Verdorfer I; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Gastl G; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.
Willenbacher W; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.; ONCOTYROL - Center for Personalized Cancer Medicine, Innsbruck, Austria.
Weger R; ONCOTYROL - Center for Personalized Cancer Medicine, Innsbruck, Austria.
Nachbaur D; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.
Wolf D; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.; Medical Clinic 3, Oncology, Hematology, Immuno-Oncology and Rheumatology, University Hospital Bonn, Bonn, Germany.
Gunsilius E; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.
Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Steiner N; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.
Pokaż więcej
Źródło :
American journal of hematology [Am J Hematol] 2020 Dec; Vol. 95 (12), pp. 1562-1571. Date of Electronic Publication: 2020 Sep 19.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Genetic Loci*
Translocation, Genetic*
Chromosomes, Human, Pair 1/*genetics
Immunoglobulin Heavy Chains/*genetics
Multiple Myeloma/*genetics
Multiple Myeloma/*mortality
Neoplasm Proteins/*genetics
Adult ; Aged ; Aged, 80 and over ; CD56 Antigen/genetics ; Disease-Free Survival ; Female ; Humans ; Immunoglobulin G/genetics ; Male ; Middle Aged ; Multiple Myeloma/therapy ; Proto-Oncogene Proteins c-kit/genetics ; Survival Rate
Czasopismo naukowe
Tytuł :
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.
Autorzy :
El Waly B; Aix Marseille Univ, INSERM, MMG, Marseille, France.; Institut des Neurosciences de la Timone, Aix-Marseille Université and CNRS UMR7289, Marseille, France.
Mignon-Ravix C; Aix Marseille Univ, INSERM, MMG, Marseille, France.
Cacciagli P; Département de Génétique Médicale, Hôpital d'Enfants de La Timone, Assistance Publique Hôpitaux de Marseille, 13385, Marseille, France.
Buhler E; Inserm, U901, PPGI, 13009, Marseille, France.; INMED, PPGI, 13009, Marseille, France.
Ben Zeev B; Sheba Medical Center, Pediatric Neurology Unit, 52621, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Villard L; Aix Marseille Univ, INSERM, MMG, Marseille, France. .; Département de Génétique Médicale, Hôpital d'Enfants de La Timone, Assistance Publique Hôpitaux de Marseille, 13385, Marseille, France. .
Pokaż więcej
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Dec; Vol. 28 (12), pp. 1703-1713. Date of Electronic Publication: 2020 Jun 02.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Duplication*
Biomarkers, Tumor/*genetics
Chromosomes, Human, Pair 1/*genetics
DNA-Binding Proteins/*genetics
Intellectual Disability/*genetics
Phosphopyruvate Hydratase/*genetics
Polymicrogyria/*genetics
Tumor Suppressor Proteins/*genetics
Adult ; Animals ; Brain/embryology ; Brain/metabolism ; Female ; Humans ; Intellectual Disability/pathology ; Mice ; Microcephaly/genetics ; Microcephaly/pathology ; Neurogenesis ; Phosphopyruvate Hydratase/metabolism ; Polymicrogyria/pathology ; Rats ; Rats, Wistar ; Syndrome
Czasopismo naukowe
Tytuł :
Survival outcome and prognostic factors in anaplastic oligodendroglioma: a single-institution study of 95 cases.
Autorzy :
Shin DW; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Lee S; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Song SW; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Cho YH; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Hong SH; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Kim JH; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Kim HS; Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Park JE; Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Nam SJ; Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Kim YH; Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2020 Nov 19; Vol. 10 (1), pp. 20162. Date of Electronic Publication: 2020 Nov 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Neoplasms/*genetics
Brain Neoplasms/*mortality
Oligodendroglioma/*genetics
Oligodendroglioma/*mortality
Adult ; Aged ; Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/therapy ; Chemoradiotherapy, Adjuvant ; Chromosome Deletion ; Chromosomes, Human, Pair 1/genetics ; Disease-Free Survival ; Female ; Humans ; Isocitrate Dehydrogenase/genetics ; Male ; Middle Aged ; Mutation ; Oligodendroglioma/diagnostic imaging ; Oligodendroglioma/therapy ; Prognosis ; Young Adult
Czasopismo naukowe
Tytuł :
Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes.
Autorzy :
Vatin M; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Girault MS; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Firlej V; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Marchiol C; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Ialy-Radio C; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Montagutelli X; Mouse Genetics Laboratory, Institut Pasteur, F-75015 Paris, France.
Vaiman D; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Barbaux S; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Ziyyat A; Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.; Service d'histologie, d'embryologie, Biologie de la Reproduction, AP-HP, Hôpital Cochin, F-75014 Paris, France.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Nov 12; Vol. 21 (22). Date of Electronic Publication: 2020 Nov 12.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1/*genetics
Infertility, Male/*genetics
Quantitative Trait Loci/*genetics
Acrosome/physiology ; Animals ; Cell Nucleus/genetics ; Cell Nucleus/physiology ; Epididymis/physiology ; Female ; Humans ; Male ; Mice ; Phenotype ; Spermatids/physiology ; Spermatogenesis/genetics ; Spermatozoa/physiology ; Teratozoospermia/genetics
Czasopismo naukowe
Tytuł :
Three-Dimensional Nuclear Telomere Profiling as a Biomarker for Recurrence in Oligodendrogliomas: A Pilot Study.
Autorzy :
Gadji M; Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, 3001 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Departments of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Cell Biology, Research Institute of Oncology and Hematology (RIOH), CancerCare Manitoba (CCMB), The Genomic Centre for Cancer Research and Diagnosis (GCCRD), The University of Manitoba, 675 McDermot Avenue, Winnipeg, MB R3E 0V9, Canada.; Faculty of Medicine, Pharmacy and Odonto-Stomatology (FMPO), National Centre of Blood Transfusion of Dakar (CNTS), The Cheikh Anta Diop University of Dakar (UCAD), Dakar Fann BP 5002 Pt E, Senegal.
Mathur S; Departments of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Cell Biology, Research Institute of Oncology and Hematology (RIOH), CancerCare Manitoba (CCMB), The Genomic Centre for Cancer Research and Diagnosis (GCCRD), The University of Manitoba, 675 McDermot Avenue, Winnipeg, MB R3E 0V9, Canada.
Bélanger B; Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, 3001 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.
Jangamreddy JR; UR Advanced Therapeutics Pvt Ltd., ASPIRE-BioNEST, School of Life Sciences, University of Hyderabad, Hyderabad 500046, India.
Lamoureux J; Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, 3001 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.
Tsanaclis AMC; Department of Pathology and cellular Biology, Faculty of Medicine, University of Montreal, Montreal, QC H3C 3J7, Canada.
Fortin D; Division of Neurosurgery, Department of Surgery, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.
Drouin R; Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, 3001 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU de Quebec - ULaval, Faculty of Medicine, University Laval, Quebec City, Quebec, QC G1V 4G2, Canada.
Mai S; Departments of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Cell Biology, Research Institute of Oncology and Hematology (RIOH), CancerCare Manitoba (CCMB), The Genomic Centre for Cancer Research and Diagnosis (GCCRD), The University of Manitoba, 675 McDermot Avenue, Winnipeg, MB R3E 0V9, Canada.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Nov 12; Vol. 21 (22). Date of Electronic Publication: 2020 Nov 12.
Typ publikacji :
Journal Article
MeSH Terms :
Neoplasm Recurrence, Local*
Biomarkers, Tumor/*metabolism
Brain Neoplasms/*diagnosis
Cell Nucleus/*metabolism
Oligodendroglioma/*diagnosis
Telomere/*metabolism
Adult ; Aged ; Biopsy ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 19 ; Disease Progression ; Female ; Genomics ; Humans ; Imaging, Three-Dimensional ; In Situ Hybridization, Fluorescence ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Oligodendroglioma/genetics ; Oligodendroglioma/pathology ; Pilot Projects ; Prospective Studies ; Quality of Life ; Telomere/ultrastructure ; Treatment Outcome
Czasopismo naukowe
Tytuł :
A nuclear transport-related gene signature combined with IDH mutation and 1p/19q codeletion better predicts the prognosis of glioma patients.
Autorzy :
Zhu Z; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.; PLA Rocket Force Characteristic Medical Center, Beijing, 100088, China.
Lan Y; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Wang L; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Ge J; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Wang J; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Liu F; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
He Z; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Zhang H; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Luo M; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Lin D; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Tan Y; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Xu Y; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China.
Luo T; Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, Ministry of Education of China, Chongqing, 400038, China. .
Pokaż więcej
Źródło :
BMC cancer [BMC Cancer] 2020 Nov 09; Vol. 20 (1), pp. 1072. Date of Electronic Publication: 2020 Nov 09.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Mutation*
Transcriptome*
Active Transport, Cell Nucleus/*genetics
Biomarkers, Tumor/*genetics
Glioma/*pathology
Isocitrate Dehydrogenase/*genetics
Adolescent ; Adult ; Aged ; Brain Neoplasms/genetics ; Brain Neoplasms/metabolism ; Brain Neoplasms/pathology ; Child ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19/genetics ; Female ; Follow-Up Studies ; Gene Expression Regulation, Neoplastic ; Glioma/genetics ; Glioma/metabolism ; Humans ; Male ; Middle Aged ; Prognosis ; Survival Rate ; Young Adult
Czasopismo naukowe
Tytuł :
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.
Autorzy :
Aagaard KS; Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.
Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Miceikaite I; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Kjeldsen AD; Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.
Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Pokaż więcej
Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1498. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Translocation, Genetic*
Intestinal Polyposis/*congenital
Neoplastic Syndromes, Hereditary/*genetics
Smad4 Protein/*genetics
Telangiectasia, Hereditary Hemorrhagic/*genetics
Adult ; Chromosome Breakpoints ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 18/genetics ; Female ; Humans ; Intestinal Polyposis/genetics ; Intestinal Polyposis/pathology ; Male ; Neoplastic Syndromes, Hereditary/pathology ; Pedigree ; Telangiectasia, Hereditary Hemorrhagic/pathology
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
False-positive 1p/19q Testing Results in Gliomas: Clinical and Research Consequences.
Autorzy :
Alnahhas I; Division of Neuro-Oncology, Department of Neurology, Thomas Jefferson University, Philadelphia, PA.
Rayi A; Department of Neurology, Charleston Area Medical Center, Charleston, WV.
Thomas D; Division of Neuropathology, Department of Pathology.
Ong S; Division of Neuro-Oncology, Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH.
Giglio P; Division of Neuro-Oncology, Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH.
Puduvalli V; Division of Neuro-Oncology, Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH.
Pokaż więcej
Źródło :
American journal of clinical oncology [Am J Clin Oncol] 2020 Nov; Vol. 43 (11), pp. 802-805.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Diagnostic Errors*
In Situ Hybridization, Fluorescence*
Brain Neoplasms/*diagnosis
Glioma/*diagnosis
Adult ; Biomarkers, Tumor/analysis ; Biomarkers, Tumor/genetics ; Brain Neoplasms/genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19/genetics ; False Positive Reactions ; Female ; Glioma/genetics ; Humans ; Male ; Young Adult
Czasopismo naukowe
Tytuł :
Whole-Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth.
Autorzy :
Lee EY; Department of Bioengineering and Therapeutic Sciences and.; Department of Medicine, University of California, San Francisco, San Francisco, California.
Mak ACY; Department of Medicine, University of California, San Francisco, San Francisco, California.
Hu D; Department of Medicine, University of California, San Francisco, San Francisco, California.
Sajuthi S; Department of Pediatrics, Center for Genes, Environment, and Health, and.
White MJ; Department of Medicine, University of California, San Francisco, San Francisco, California.
Keys KL; Department of Medicine, University of California, San Francisco, San Francisco, California.
Eckalbar W; Department of Bioengineering and Therapeutic Sciences and.
Bonser L; Department of Medicine, University of California, San Francisco, San Francisco, California.
Huntsman S; Department of Medicine, University of California, San Francisco, San Francisco, California.
Urbanek C; Department of Pediatrics, Center for Genes, Environment, and Health, and.
Eng C; Department of Medicine, University of California, San Francisco, San Francisco, California.
Jain D; Department of Biostatistics and.
Abecasis G; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan.; Regeneron Pharmaceuticals, Tarrytown, New York.
Kang HM; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan.
Germer S; New York Genome Center, New York, New York.
Zody MC; New York Genome Center, New York, New York.
Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington.; Northwest Genomics Center, Seattle, Washington.; Brotman Baty Institute, Seattle, Washington.
Erle D; Department of Medicine, University of California, San Francisco, San Francisco, California.
Ziv E; Department of Medicine, University of California, San Francisco, San Francisco, California.
Rodriguez-Santana J; Centro de Neumología Pediátrica, San Juan, Puerto Rico; and.
Seibold MA; Department of Pediatrics, Center for Genes, Environment, and Health, and.; Department of Pediatrics, National Jewish Health, Denver, Colorado.; Division of Pulmonary Sciences and Critical Care Medicine, Department of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, Colorado.
Burchard EG; Department of Bioengineering and Therapeutic Sciences and.; Department of Medicine, University of California, San Francisco, San Francisco, California.
Pokaż więcej
Źródło :
American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2020 Oct 01; Vol. 202 (7), pp. 962-972.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
African Continental Ancestry Group/*genetics
Asthma/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 5/*genetics
Forced Expiratory Volume/*genetics
Indians, North American/*genetics
Lung/*physiopathology
Adolescent ; Asthma/physiopathology ; Bronchi/cytology ; Case-Control Studies ; Cell Line ; Child ; Chromatin Immunoprecipitation ; Chromosome Mapping ; Esophageal Mucosa/metabolism ; European Continental Ancestry Group/genetics ; Female ; Gene Expression ; Humans ; Linkage Disequilibrium ; Lung/physiology ; Male ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Myocytes, Smooth Muscle ; Nasal Mucosa/metabolism ; Polymorphism, Single Nucleotide ; Puerto Rico ; Quantitative Trait Loci ; Sequence Analysis, RNA ; Whole Genome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Acquisition of chromosome 1q duplication in parental and genome-edited human-induced pluripotent stem cell-derived neural stem cells results in their higher proliferation rate in vitro and in vivo.
Autorzy :
Mehrjardi NZ; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.; Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
Molcanyi M; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
Hatay FF; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
Timmer M; Department of Neurosurgery, University Hospital Cologne, Cologne, Germany.
Shahbazi E; Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
Ackermann JP; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
Herms S; Department of Genomics, Life & Brain Center, Institute for Human Genetics, University of Bonn, Bonn, Germany.; Department of Biomedicine, Medical Genetics, Research Group Genomics, University Hospital Basel, Basel, Switzerland.
Heilmann-Heimbach S; Department of Genomics, Life & Brain Center, Institute for Human Genetics, University of Bonn, Bonn, Germany.
Wunderlich TF; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Metabolism Research and Institute for Genetics, University of Cologne, Cologne, Germany.; Cologne Cluster of Excellence in Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne, Germany.
Prochnow N; Clinic for Neurology, St. Josef-Hospital, Clinic of the Ruhr-University Bochum, Bochum, Germany.
Haghikia A; Clinic for Neurology, St. Josef-Hospital, Clinic of the Ruhr-University Bochum, Bochum, Germany.
Lampert A; Institute of Physiology, Uniklinik, RWTH Aachen University, Aachen, Germany.
Hescheler J; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
Neugebauer EAM; Medizinische Hochschule Brandenburg Theodor Fontane, Campus Neuruppin, Neuruppin, Germany.
Baharvand H; Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.; Department of Developmental Biology, University of Science and Culture, Tehran, Iran.
Šarić T; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
Pokaż więcej
Źródło :
Cell proliferation [Cell Prolif] 2020 Oct; Vol. 53 (10), pp. e12892. Date of Electronic Publication: 2020 Sep 12.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1/*genetics
Gene Editing/*methods
Induced Pluripotent Stem Cells/*metabolism
Neural Stem Cells/*metabolism
Brain/metabolism ; Brain/pathology ; Cell Differentiation ; Cell Proliferation ; Cells, Cultured ; Gene Duplication ; Genetic Vectors/genetics ; Genetic Vectors/metabolism ; Humans ; Induced Pluripotent Stem Cells/cytology ; Karyotype ; Neural Stem Cells/cytology ; Proto-Oncogene Proteins c-akt/metabolism ; Zinc Fingers/genetics
Czasopismo naukowe
Tytuł :
Association of the 1q25 Diabetes-Specific Coronary Heart Disease Locus With Alterations of the γ-Glutamyl Cycle and Increased Methylglyoxal Levels in Endothelial Cells.
Autorzy :
Pipino C; Research Division, Joslin Diabetes Center, Boston, MA.; Department of Medicine, Harvard Medical School, Boston, MA.; Department of Medical, Oral and Biotechnological Sciences, Center for Advanced Studies and Technology - CAST (ex CeSI-MeT), University G. d'Annunzio of Chieti-Pescara, Chieti, Italy.
Shah H; Research Division, Joslin Diabetes Center, Boston, MA.; Department of Medicine, Harvard Medical School, Boston, MA.
Prudente S; Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Di Pietro N; Department of Medical, Oral and Biotechnological Sciences, Center for Advanced Studies and Technology - CAST (ex CeSI-MeT), University G. d'Annunzio of Chieti-Pescara, Chieti, Italy.
Zeng L; Division of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI.
Park K; Research Division, Joslin Diabetes Center, Boston, MA.; Department of Medicine, Harvard Medical School, Boston, MA.
Trischitta V; Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Experimental Medicine, Sapienza University, Rome, Italy.
Pennathur S; Division of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI.
Pandolfi A; Department of Medical, Oral and Biotechnological Sciences, Center for Advanced Studies and Technology - CAST (ex CeSI-MeT), University G. d'Annunzio of Chieti-Pescara, Chieti, Italy.
Doria A; Research Division, Joslin Diabetes Center, Boston, MA .; Department of Medicine, Harvard Medical School, Boston, MA.
Pokaż więcej
Źródło :
Diabetes [Diabetes] 2020 Oct; Vol. 69 (10), pp. 2206-2216. Date of Electronic Publication: 2020 Jul 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Coronary Disease/*metabolism
Endothelial Cells/*metabolism
Chromosomes, Human, Pair 1/metabolism ; Coronary Disease/genetics ; Dipeptides ; Endophthalmitis/metabolism ; Glutamate-Ammonia Ligase/metabolism ; Glutamates/metabolism ; Glutamine/metabolism ; Human Umbilical Vein Endothelial Cells ; Humans ; Pyruvaldehyde/metabolism ; RNA, Small Interfering/metabolism
Czasopismo naukowe
Tytuł :
Chromosome-based gene co-expression analysis reveals regions associated with cancers: chromosome 1 as an example.
Autorzy :
Liu W; School of Life Sciences, Fujian Agriculture and Forestry University, Fuzhou, 350002, China. .
Pokaż więcej
Źródło :
Molecular biology reports [Mol Biol Rep] 2019 Apr; Vol. 46 (2), pp. 1551-1553. Date of Electronic Publication: 2019 Jan 24.
Typ publikacji :
Letter
MeSH Terms :
Chromosomes, Human, Pair 1*
Gene Regulatory Networks*
Computational Biology/methods ; Databases, Genetic ; Gene Expression Profiling/methods ; Humans ; Neoplasms/genetics ; Quantitative Trait Loci/genetics
Opinia redakcyjna
Tytuł :
Somatic mosaicisms of chromosome 1 at two different stages of ontogenetic development detected by Rh blood group discrepancies.
Autorzy :
Dauber EM; Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Austria.
Mayr WR; Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Austria.
Hustinx H; Blood Transfusion Service, Swiss Red Cross (SRK), Bern, Switzerland.
Schönbacher M; Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Austria.
Budde H; Department of Transfusion Medicine, University of Göttingen, Germany.
Legler TJ; Department of Transfusion Medicine, University of Göttingen, Germany.
König M; Children's Cancer Research Institute, St. Anna Hospital, Vienna, Austria.
Haas OA; Children's Cancer Research Institute, St. Anna Hospital, Vienna, Austria.
Fritsch G; Children's Cancer Research Institute, St. Anna Hospital, Vienna, Austria.
Körmöczi GF; Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Austria .
Pokaż więcej
Źródło :
Haematologica [Haematologica] 2019 Mar; Vol. 104 (3), pp. 632-638. Date of Electronic Publication: 2018 Sep 20.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Mosaicism*
Cell Transformation, Neoplastic/*genetics
Rh-Hr Blood-Group System/*genetics
Adult ; Aged ; Female ; Flow Cytometry ; Genotype ; Hematopoietic Stem Cell Transplantation ; Humans ; In Situ Hybridization, Fluorescence ; Loss of Heterozygosity ; Microsatellite Repeats ; Myeloid Cells/metabolism ; Phenotype
Czasopismo naukowe
Tytuł :
Mosaicism by somatic non-functional mutations: one cell lineage at a time.
Autorzy :
Flegel WA; Department of Transfusion Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD.; Department of Pathology, Georgetown University Medical Center, Washington, DC, USA.
Pokaż więcej
Źródło :
Haematologica [Haematologica] 2019 Mar; Vol. 104 (3), pp. 425-427.
Typ publikacji :
Editorial; Research Support, N.I.H., Intramural; Comment
MeSH Terms :
Chromosomes, Human, Pair 1*
Mosaicism*
Cell Lineage ; Humans ; Mutation ; Rh-Hr Blood-Group System
Raport
Tytuł :
Predicting chromosome 1p/19q codeletion by RNA expression profile: a comparison of current prediction models.
Autorzy :
Wang ZL; Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
Zhao Z; Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
Wang Z; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Zhang CB; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Jiang T; Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.; Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing, China.
Pokaż więcej
Źródło :
Aging [Aging (Albany NY)] 2019 Feb 02; Vol. 11 (3), pp. 974-985.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Oligodendroglioma/*genetics
Sequence Analysis, RNA/*methods
Adult ; Female ; Humans ; Male ; Middle Aged ; Oligodendroglioma/diagnosis
Czasopismo naukowe
Tytuł :
A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.
Autorzy :
Lloveras E
Canellas A
Barranco L
Alves C
Vila-Real M
Ventura V
Fernández D
Mendez B
Piqué M
Reis-Lima M
de la Iglesia C
Palau N
Costa M
Yeste D
Auge M
Perez C
Pokaż więcej
Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2019; Vol. 159 (3), pp. 126-129. Date of Electronic Publication: 2019 Dec 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Corpus Callosum/*pathology
Microcephaly/*genetics
Seizures/*genetics
Child ; Humans ; Male
Czasopismo naukowe
Tytuł :
Non-invasive genotype prediction of chromosome 1p/19q co-deletion by development and validation of an MRI-based radiomics signature in lower-grade gliomas.
Autorzy :
Han Y; School of Life Science and Technology, Xidian University, Xi'an, 710126, China.; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China.; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China.
Xie Z; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Zang Y; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China.; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China.; University of Chinese Academy of Sciences, Beijing, 100049, China.
Zhang S; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China.; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China.; University of Chinese Academy of Sciences, Beijing, 100049, China.
Gu D; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China.; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China.; University of Chinese Academy of Sciences, Beijing, 100049, China.
Zhou M; Stanford Center for Biomedical Informatics Research, Stanford University, Palo Alto, CA, USA.
Gevaert O; Stanford Center for Biomedical Informatics Research, Stanford University, Palo Alto, CA, USA.
Wei J; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China.; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China.; University of Chinese Academy of Sciences, Beijing, 100049, China.
Li C; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Chen H; Department of Neuroradiology, Beijing Neurosurgical Institute, Capital Medical University, No. 6 Tiantanxili, Dongcheng District, Beijing, 100050, China.
Du J; Department of Neuroradiology, Beijing Neurosurgical Institute, Capital Medical University, No. 6 Tiantanxili, Dongcheng District, Beijing, 100050, China.
Liu Z; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China.; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China.; University of Chinese Academy of Sciences, Beijing, 100049, China.
Dong D; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China. .; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China. .; University of Chinese Academy of Sciences, Beijing, 100049, China. .
Tian J; Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China. .; Beijing Key Laboratory of Molecular Imaging, Beijing, 100190, China. .; The State Key Laboratory of Management and Control for Complex Systems, Institute of Automation, Chinese Academy of Sciences, Beijing, 100190, China. .; University of Chinese Academy of Sciences, Beijing, 100049, China. .
Zhou D; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China. .; China National Clinical Research Center for Neurological Diseases, Beijing, 100050, China. .
Pokaż więcej
Źródło :
Journal of neuro-oncology [J Neurooncol] 2018 Nov; Vol. 140 (2), pp. 297-306. Date of Electronic Publication: 2018 Aug 10.
Typ publikacji :
Journal Article; Validation Study
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Magnetic Resonance Imaging*
Brain Neoplasms/*diagnostic imaging
Glioma/*diagnostic imaging
Adolescent ; Adult ; Aged ; Area Under Curve ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Female ; Glioma/genetics ; Glioma/pathology ; Humans ; Image Interpretation, Computer-Assisted/methods ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Neoplasm Grading ; ROC Curve ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Prognostic significance of 1p36 locus deletion in adenoid cystic carcinoma of the salivary glands.
Autorzy :
Šteiner P; Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic. .; Bioptic Laboratory, Ltd, Molecular Pathology Laboratory, Mikulášské náměstí 4, 326 00, Plzen, Czech Republic. .
Andreasen S; Department of Otorhinolaryngology Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Otorhinolaryngology and Maxillofacial Surgery, Zealand University Hospital, Køge, Denmark.
Grossmann P; Bioptic Laboratory, Ltd, Molecular Pathology Laboratory, Mikulášské náměstí 4, 326 00, Plzen, Czech Republic.
Hauer L; Department of Maxillofacial Surgery, Faculty of Medicine in Plzen, Clinic of Dentistry, Charles University, Plzen, Czech Republic.
Vaněček T; Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic.; Bioptic Laboratory, Ltd, Molecular Pathology Laboratory, Mikulášské náměstí 4, 326 00, Plzen, Czech Republic.
Miesbauerová M; Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic.
Santana T; Department of Oral Pathology, Faculty of Dentistry, University of São Paulo, São Paulo, Brazil.
Kiss K; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Slouka D; Department of Otorhinolaryngology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic.
Skálová A; Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic.
Pokaż więcej
Źródło :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2018 Oct; Vol. 473 (4), pp. 471-480. Date of Electronic Publication: 2018 Apr 04.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Biomarkers, Tumor/*genetics
Carcinoma, Adenoid Cystic/*genetics
Salivary Gland Neoplasms/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Adenoid Cystic/mortality ; Carcinoma, Adenoid Cystic/secondary ; Carcinoma, Adenoid Cystic/therapy ; Disease Progression ; Disease-Free Survival ; Gene Fusion ; Genetic Predisposition to Disease ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Kaplan-Meier Estimate ; Male ; Middle Aged ; NFI Transcription Factors/genetics ; Neoplasm Grading ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Oncogene Proteins, Fusion/genetics ; Phenotype ; Proportional Hazards Models ; Proto-Oncogene Proteins/genetics ; Risk Factors ; Salivary Gland Neoplasms/mortality ; Salivary Gland Neoplasms/pathology ; Salivary Gland Neoplasms/therapy ; Time Factors ; Trans-Activators/genetics ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Concomitant 1p36 deletion and TNFRSF14 mutations in primary cutaneous follicle center lymphoma frequently expressing high levels of EZH2 protein.
Autorzy :
Gángó A; MTA-SE Lendulet Molecular Oncohematology Research Group, First Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Bátai B; MTA-SE Lendulet Molecular Oncohematology Research Group, First Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Varga M; First Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői ut 26, Budapest, 1085, Hungary.
Kapczár D; First Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői ut 26, Budapest, 1085, Hungary.
Papp G; First Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői ut 26, Budapest, 1085, Hungary.
Marschalkó M; Department of Dermatology, Dermatooncology and Venerology, Semmelweis University, Budapest, Hungary.
Kuroli E; Department of Dermatology, Dermatooncology and Venerology, Semmelweis University, Budapest, Hungary.
Schneider T; National Institute of Oncology, Budapest, Hungary.
Csomor J; First Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői ut 26, Budapest, 1085, Hungary.
Matolcsy A; MTA-SE Lendulet Molecular Oncohematology Research Group, First Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.; First Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői ut 26, Budapest, 1085, Hungary.
Bödör C; MTA-SE Lendulet Molecular Oncohematology Research Group, First Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Szepesi Á; First Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői ut 26, Budapest, 1085, Hungary. .
Pokaż więcej
Źródło :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2018 Oct; Vol. 473 (4), pp. 453-462. Date of Electronic Publication: 2018 Jun 01.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Mutation*
Biomarkers, Tumor/*genetics
Enhancer of Zeste Homolog 2 Protein/*genetics
Lymphoma, Follicular/*genetics
Receptors, Tumor Necrosis Factor, Member 14/*genetics
Skin Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/analysis ; DNA Mutational Analysis ; Disease-Free Survival ; Enhancer of Zeste Homolog 2 Protein/analysis ; Female ; Genetic Predisposition to Disease ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lymphoma, Follicular/chemistry ; Lymphoma, Follicular/pathology ; Lymphoma, Follicular/therapy ; Male ; Middle Aged ; Neoplasm Staging ; Phenotype ; Proto-Oncogene Proteins c-bcl-2/genetics ; Retrospective Studies ; Skin Neoplasms/chemistry ; Skin Neoplasms/pathology ; Skin Neoplasms/therapy ; Time Factors ; Treatment Outcome ; Up-Regulation
Czasopismo naukowe
Tytuł :
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.
Autorzy :
Michelini S; Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy.
Ricci M; Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, Italy.
Veselenyiova D; Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, Slovakia.; MAGI Euregio, 39100 Bolzano, BZ, Italy.
Kenanoglu S; MAGI Euregio, 39100 Bolzano, BZ, Italy.; Department of Medical Genetics, Faculty of Medicine, Erciyes University, 38039 Kayseri, Turkey.
Kurti D; MAGI Euregio, 39100 Bolzano, BZ, Italy.; MAGI-Balkan, 1019 Tirana, Albania.
Baglivo M; MAGI Euregio, 39100 Bolzano, BZ, Italy.
Fiorentino A; Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy.
Basha SH; Innovative Informatica Technologies, Hyderabad 500 049, India.
Priya S; Innovative Informatica Technologies, Hyderabad 500 049, India.
Serrani R; Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, Italy.
Krajcovic J; Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, Slovakia.
Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, 38039 Kayseri, Turkey.
Dautaj A; MAGI-Balkan, 1019 Tirana, Albania.; EBTNA-Lab, 38068 Rovereto, TN, Italy.
Bertelli M; MAGI Euregio, 39100 Bolzano, BZ, Italy.; EBTNA-Lab, 38068 Rovereto, TN, Italy.; MAGI's Lab, 38068 Rovereto, TN, Italy.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 16; Vol. 21 (18). Date of Electronic Publication: 2020 Sep 16.
Typ publikacji :
Journal Article
MeSH Terms :
Lymphatic Abnormalities/*genetics
Lymphedema/*genetics
Receptor, TIE-1/*physiology
Aged ; Amino Acid Sequence ; Chromosomes, Human, Pair 1/genetics ; Computer Simulation ; Female ; Genetic Association Studies ; Genetic Testing ; Humans ; Italy ; Lymphangiogenesis/genetics ; Male ; Middle Aged ; Models, Molecular ; Mutation ; Pedigree ; Protein Conformation ; Receptor, TIE-1/genetics ; Retrospective Studies ; Sequence Alignment ; Young Adult
Czasopismo naukowe
Tytuł :
Characterization of longitudinal transformation of T2-hyperintensity in oligodendroglioma.
Autorzy :
Heiland DH; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany. .; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany. .; Medical Faculty, Freiburg University, Freiburg, Germany. .
Ohle R; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Cipriani D; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Franco P; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Delev D; Department of Neurosurgery, University of Aachen, Aachen, Germany.
Behriger SP; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Kellner E; Medical Physics, Department of Radiology, Medical Centre - University of Freiburg, Freiburg, Germany.
Petrova G; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Neidert N; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Mader I; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, Vogtareuth, Germany.
Nuñez MF; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Urbach H; Medical Faculty, Freiburg University, Freiburg, Germany.; Department of Neuroradiology, Medical Center - University of Freiburg, Freiburg, Germany.
Sankowski R; Medical Faculty, Freiburg University, Freiburg, Germany.; Institute of Neuropathology, Medical Center - University of Freiburg, Freiburg, Germany.; Berta-Ottenstein-Programme for Clinician Scientists Medical Center, University of Freiburg, Freiburg, Germany.
Beck J; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Schnell O; Translational NeuroOncology Research Group, Medical Center, University of Freiburg, Freiburg, Germany.; Department of Neurosurgery, Medical Center, University of Freiburg, Breisacher Straße 64, 79106, Freiburg, Germany.; Medical Faculty, Freiburg University, Freiburg, Germany.
Pokaż więcej
Źródło :
BMC cancer [BMC Cancer] 2020 Aug 27; Vol. 20 (1), pp. 818. Date of Electronic Publication: 2020 Aug 27.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Astrocytoma/*diagnostic imaging
Brain Neoplasms/*diagnostic imaging
Magnetic Resonance Imaging/*methods
Neoplasm Recurrence, Local/*diagnostic imaging
Oligodendroglioma/*diagnostic imaging
Adult ; Aged ; Aged, 80 and over ; Astrocytoma/genetics ; Brain Neoplasms/genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19/genetics ; Female ; Follow-Up Studies ; Humans ; Isocitrate Dehydrogenase/genetics ; Longitudinal Studies ; Male ; Middle Aged ; Mutation ; Neoplasm Recurrence, Local/genetics ; Neoplasm Staging ; Oligodendroglioma/genetics ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.
Autorzy :
Kucharik M; Geneton Ltd., Bratislava, Slovakia.; Comenius University Science Park, Bratislava, Slovakia.
Gnip A; Medirex Inc., Bratislava, Slovakia.; TrisomyTest Ltd., Bratislava, Slovakia.
Hyblova M; Medirex Inc., Bratislava, Slovakia.; TrisomyTest Ltd., Bratislava, Slovakia.
Budis J; Geneton Ltd., Bratislava, Slovakia.; Comenius University Science Park, Bratislava, Slovakia.; Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia.
Strieskova L; Geneton Ltd., Bratislava, Slovakia.
Harsanyova M; Geneton Ltd., Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Pös O; Geneton Ltd., Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Kubiritova Z; Geneton Ltd., Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Radvanszky J; Geneton Ltd., Bratislava, Slovakia.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Minarik G; Medirex Inc., Bratislava, Slovakia.; TrisomyTest Ltd., Bratislava, Slovakia.
Szemes T; Geneton Ltd., Bratislava, Slovakia.; Comenius University Science Park, Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Pokaż więcej
Źródło :
PloS one [PLoS One] 2020 Aug 26; Vol. 15 (8), pp. e0238245. Date of Electronic Publication: 2020 Aug 26 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Limit of Detection*
Chromosome Mapping/*methods
Noninvasive Prenatal Testing/*methods
Whole Genome Sequencing/*methods
Cell-Free Nucleic Acids/analysis ; Chromosome Deletion ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 1/genetics ; Cri-du-Chat Syndrome/diagnosis ; Cri-du-Chat Syndrome/genetics ; DiGeorge Syndrome/diagnosis ; DiGeorge Syndrome/genetics ; Female ; Humans ; Prader-Willi Syndrome/diagnosis ; Prader-Willi Syndrome/genetics ; Pregnancy ; Prenatal Care ; Wolf-Hirschhorn Syndrome/diagnosis ; Wolf-Hirschhorn Syndrome/genetics
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Diffuse follicular lymphoma variant with a typical diagnostic pattern and an unusually aggressive clinical presentation.
Autorzy :
Martín-Moro F; Department of Hematology, Ramón y Cajal University Hospital, M-607, km. 9, 100, 28034, Madrid, Spain. .
Marquet-Palomanes J; Department of Hematology, Ramón y Cajal University Hospital, M-607, km. 9, 100, 28034, Madrid, Spain.
Piris-Villaespesa M; Department of Hematology, Ramón y Cajal University Hospital, M-607, km. 9, 100, 28034, Madrid, Spain.
Lopez-Jiménez J; Department of Hematology, Ramón y Cajal University Hospital, M-607, km. 9, 100, 28034, Madrid, Spain.
García-Cosío M; Department of Pathology, Ramón y Cajal University Hospital, Madrid, Spain.
Pokaż więcej
Źródło :
International journal of hematology [Int J Hematol] 2020 Aug; Vol. 112 (2), pp. 136-138. Date of Electronic Publication: 2020 Jun 06.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Lymphoma, Follicular/*diagnosis
Lymphoma, Follicular/*genetics
Aged, 80 and over ; Chromosome Deletion ; Chromosomes, Human, Pair 1/genetics ; Female ; Gene Expression ; Humans ; Immunophenotyping ; Lymph Nodes/pathology ; Lymphoma, Follicular/immunology ; Lymphoma, Follicular/pathology ; Mutation ; Phosphorylation ; Positron Emission Tomography Computed Tomography ; Proto-Oncogene Proteins c-bcl-2/genetics ; Rare Diseases ; STAT6 Transcription Factor/genetics ; STAT6 Transcription Factor/metabolism ; Translocation, Genetic
Raport
Tytuł :
IGSF3 mutation identified in patient with severe COPD alters cell function and motility.
Autorzy :
Schweitzer KS; Department of Medicine, National Jewish Health, Denver, Colorado, USA.; Department of Medicine, Indiana University, Indianapolis, Indiana, USA.
Jinawath N; Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, and.; Integrative Computational Bioscience Center, Mahidol University, Nakhon Pathom, Thailand.
Yonescu R; Department of Pathology, Division of Molecular Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
Ni K; Department of Medicine, National Jewish Health, Denver, Colorado, USA.; Department of Medicine, Indiana University, Indianapolis, Indiana, USA.
Rush N; Department of Medicine, Indiana University, Indianapolis, Indiana, USA.
Charoensawan V; Integrative Computational Bioscience Center, Mahidol University, Nakhon Pathom, Thailand.; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand.
Bronova I; Department of Medicine, National Jewish Health, Denver, Colorado, USA.
Berdyshev E; Department of Medicine, National Jewish Health, Denver, Colorado, USA.
Leach SM; Department of Medicine, National Jewish Health, Denver, Colorado, USA.
Gillenwater LA; Department of Medicine, National Jewish Health, Denver, Colorado, USA.
Bowler RP; Department of Medicine, National Jewish Health, Denver, Colorado, USA.
Pearse DB; Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
Griffin CA; Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, and.
Petrache I; Department of Medicine, National Jewish Health, Denver, Colorado, USA.; Department of Medicine, Indiana University, Indianapolis, Indiana, USA.; Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
Pokaż więcej
Źródło :
JCI insight [JCI Insight] 2020 Jul 23; Vol. 5 (14). Date of Electronic Publication: 2020 Jul 23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Cigarette Smoking/*genetics
Immunoglobulins/*genetics
Membrane Proteins/*genetics
Pulmonary Disease, Chronic Obstructive/*genetics
Translocation, Genetic/*genetics
Apoptosis/genetics ; Cell Adhesion/genetics ; Cell Movement/genetics ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 4/genetics ; Cigarette Smoking/adverse effects ; Female ; Gene Expression Regulation/genetics ; Humans ; Integrin beta1/genetics ; Male ; Middle Aged ; Mutation/genetics ; Polymorphism, Single Nucleotide/genetics ; Pulmonary Disease, Chronic Obstructive/chemically induced ; Pulmonary Disease, Chronic Obstructive/pathology ; Severity of Illness Index ; Tetraspanin 29/genetics
Czasopismo naukowe
Tytuł :
Human IDH mutant 1p/19q co-deleted gliomas have low tumor acidity as evidenced by molecular MRI and PET: a retrospective study.
Autorzy :
Yao J; UCLA Brain Tumor Imaging Laboratory (BTIL), Center for Computer Vision and Imaging Biomarkers, University of California, Los Angeles, 924 Westwood Blvd., Suite 615, Los Angeles, CA, 90024, USA.; Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Bioengineering, Henry Samueli School of Engineering and Applied Science, University of California, Los Angeles, Los Angeles, CA, USA.
Hagiwara A; UCLA Brain Tumor Imaging Laboratory (BTIL), Center for Computer Vision and Imaging Biomarkers, University of California, Los Angeles, 924 Westwood Blvd., Suite 615, Los Angeles, CA, 90024, USA.; Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Raymond C; UCLA Brain Tumor Imaging Laboratory (BTIL), Center for Computer Vision and Imaging Biomarkers, University of California, Los Angeles, 924 Westwood Blvd., Suite 615, Los Angeles, CA, 90024, USA.; Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Shabani S; UCLA Brain Tumor Imaging Laboratory (BTIL), Center for Computer Vision and Imaging Biomarkers, University of California, Los Angeles, 924 Westwood Blvd., Suite 615, Los Angeles, CA, 90024, USA.
Pope WB; Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Salamon N; Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Lai A; UCLA Neuro-Oncology Program, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Ji M; UCLA Neuro-Oncology Program, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Nghiemphu PL; UCLA Neuro-Oncology Program, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Liau LM; Department of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Cloughesy TF; UCLA Neuro-Oncology Program, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Ellingson BM; UCLA Brain Tumor Imaging Laboratory (BTIL), Center for Computer Vision and Imaging Biomarkers, University of California, Los Angeles, 924 Westwood Blvd., Suite 615, Los Angeles, CA, 90024, USA. .; Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. .; Department of Bioengineering, Henry Samueli School of Engineering and Applied Science, University of California, Los Angeles, Los Angeles, CA, USA. .; UCLA Neuro-Oncology Program, University of California, Los Angeles, Los Angeles, CA, USA. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2020 Jul 17; Vol. 10 (1), pp. 11922. Date of Electronic Publication: 2020 Jul 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Magnetic Resonance Imaging*
Positron-Emission Tomography*
Brain Neoplasms/*genetics
Chromosomes, Human, Pair 1/*genetics
Glioma/*genetics
Isocitrate Dehydrogenase/*genetics
Mutation/*genetics
Adult ; Aged ; Aged, 80 and over ; Amines/analysis ; Brain Neoplasms/diagnostic imaging ; Contrast Media/chemistry ; Dihydroxyphenylalanine/analogs & derivatives ; Dihydroxyphenylalanine/chemistry ; Female ; Glioma/diagnostic imaging ; Humans ; Hydrogen-Ion Concentration ; Magnetic Phenomena ; Male ; Middle Aged ; Phantoms, Imaging ; Young Adult
Czasopismo naukowe
Tytuł :
Imaging growth as a predictor of grade of malignancy and aggressiveness of IDH-mutant and 1p/19q-codeleted oligodendrogliomas in adults.
Autorzy :
Roux A; Department of Neurosurgery, University Hospital Group for Psychiatry and Neurosciences (GHU)-Sainte-Anne Hospital, Paris, France.; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.
Tauziede-Espariat A; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.; Department of Neuropathology, GHU-Sainte-Anne Hospital, Paris, France.
Zanello M; Department of Neurosurgery, University Hospital Group for Psychiatry and Neurosciences (GHU)-Sainte-Anne Hospital, Paris, France.; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.
Peeters S; Department of Neurosurgery, University of California Los Angeles, Los Angeles, California, USA.
Zah-Bi G; Department of Neurosurgery, University Hospital Group for Psychiatry and Neurosciences (GHU)-Sainte-Anne Hospital, Paris, France.; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.
Parraga E; Department of Neurosurgery, University Hospital Group for Psychiatry and Neurosciences (GHU)-Sainte-Anne Hospital, Paris, France.; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.
Edjlali M; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.; Department of Neuroradiology, GHU-Sainte-Anne Hospital, Paris, France.
Lechapt E; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.; Department of Neuropathology, GHU-Sainte-Anne Hospital, Paris, France.
Shor N; Department of Neuroradiology, Pitié-Salpêtrière Hospital, Paris, France.
Bellu L; Department of Neuro-Oncology, Pitié-Salpêtrière Hospital, Paris, France.
Berzero G; Department of Neuro-Oncology, Pitié-Salpêtrière Hospital, Paris, France.
Dormont D; Department of Neuroradiology, Pitié-Salpêtrière Hospital, Paris, France.
Dezamis E; Department of Neurosurgery, University Hospital Group for Psychiatry and Neurosciences (GHU)-Sainte-Anne Hospital, Paris, France.; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.
Chretien F; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.; Department of Neuropathology, GHU-Sainte-Anne Hospital, Paris, France.; Laboratory of Experimental Neuropathology, Pasteur Institute, Paris, France.
Oppenheim C; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.; Department of Neuroradiology, GHU-Sainte-Anne Hospital, Paris, France.
Sanson M; Department of Neuro-Oncology, Pitié-Salpêtrière Hospital, Paris, France.
Varlet P; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.; Department of Neuropathology, GHU-Sainte-Anne Hospital, Paris, France.
Capelle L; Department of Neurosurgery, Pitié-Salpêtrière Hospital, Paris, France.
Dhermain F; Department of Radiotherapy, Gustave Roussy University Hospital, Villejuif, France.
Pallud J; Department of Neurosurgery, University Hospital Group for Psychiatry and Neurosciences (GHU)-Sainte-Anne Hospital, Paris, France.; Paris Descartes University, Sorbonne Paris Cité, Paris, France.; INSERM Unit 1266, Imaging Biomarkers of Brain Disorders (IMA-BRAIN), Institute of Psychiatry and Neurosciences of Paris, Paris, France.
Pokaż więcej
Źródło :
Neuro-oncology [Neuro Oncol] 2020 Jul 07; Vol. 22 (7), pp. 993-1005.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Neoplasms*/diagnostic imaging
Brain Neoplasms*/genetics
Oligodendroglioma*/diagnostic imaging
Oligodendroglioma*/genetics
Adult ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 19/genetics ; Cohort Studies ; Female ; Homozygote ; Humans ; Isocitrate Dehydrogenase/genetics ; Male ; Middle Aged ; Mutation ; Retrospective Studies ; Sequence Deletion
Czasopismo naukowe
Tytuł :
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Autorzy :
Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Amiri EF; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Guleria VS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Bielas SL; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Pokaż więcej
Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Jul; Vol. 29 (3), pp. 127-131.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Abnormalities, Multiple/*genetics
Abnormalities, Multiple/*physiopathology
Megalencephaly/*genetics
Megalencephaly/*physiopathology
Adult ; Chromosome Deletion ; Chromosome Duplication/genetics ; Chromosomes, Human, Pair 1/genetics ; DNA Copy Number Variations/genetics ; Family ; Female ; Heart Defects, Congenital/genetics ; Humans ; India ; Intellectual Disability/genetics ; Male ; Microcephaly/genetics ; Pedigree ; Phenotype ; Syndrome
SCR Disease Name :
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Czasopismo naukowe
Tytuł :
Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.
Autorzy :
Nishimura N; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.; Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Murakami H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Saito T; Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan.
Masuno M; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan.
Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Pokaż więcej
Źródło :
Congenital anomalies [Congenit Anom (Kyoto)] 2020 Jul; Vol. 60 (4), pp. 128-130. Date of Electronic Publication: 2019 Oct 21.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Chromosomes, Human, Pair 1/*genetics
Neoplasms/*genetics
Tumor Suppressor Proteins/*genetics
Chromosome Aberrations ; Chromosome Mapping ; Humans ; Neoplasms/pathology
Czasopismo naukowe
Tytuł :
Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound.
Autorzy :
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: .
Ko TM; Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
Wang LK; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Pokaż więcej
Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2020 Jul; Vol. 59 (4), pp. 598-603.
Typ publikacji :
Case Reports
MeSH Terms :
Abnormalities, Multiple/*diagnosis
Intellectual Disability/*diagnosis
Abortion, Eugenic ; Adult ; Amniocentesis ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Female ; Humans ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/etiology ; Karyotyping ; Paternal Inheritance/genetics ; Pregnancy ; Ultrasonography, Prenatal
SCR Disease Name :
Chromosome 1q43-Q44 Deletion Syndrome
Raport
Tytuł :
1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.
Autorzy :
Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Fox O; Oxford Medical Genetics Laboratory, Churchill Hospital, Oxford, United Kingdom.
Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom.
Makaya T; Department of Paediatric Endocrinology, Oxford University Hospitals NHS Foundation Trust, Oxford Children's Hospital, Headley Way, Oxford, United Kingdom.
Shears DJ; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Sep; Vol. 176 (9), pp. 2004-2008. Date of Electronic Publication: 2018 Aug 06.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Genetic Association Studies*
Phenotype*
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adult ; Comparative Genomic Hybridization ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Symptom Assessment
Czasopismo naukowe
Tytuł :
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
Autorzy :
Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Pham VA; Vietnam National Hospital of Pediatrics, Hanoi, Vietnam.
Barcia G; Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.
Malan V; Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.
Nguyen KLT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Ngo DN; Vietnam National Hospital of Pediatrics, Hanoi, Vietnam.
Nguyen TH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Landrieu P; Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.
Colleaux L; Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Nong VH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Nguyen LS; Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Sep; Vol. 176 (9), pp. 1981-1984. Date of Electronic Publication: 2018 Sep 04.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 16*
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Adolescent ; Comparative Genomic Hybridization ; Facies ; Genetic Association Studies ; Humans ; Male ; Phenotype ; Vietnam
Czasopismo naukowe
Tytuł :
ARNT/HIF-1β links high-risk 1q21 gain and microenvironmental hypoxia to drug resistance and poor prognosis in multiple myeloma.
Autorzy :
Wu C; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.; Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Yang T; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Liu Y; Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Lu Y; Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Yang Y; Department of Hematology, Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Liu X; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Liu X; Department of Hematology, Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Ye L; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Sun Y; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Wang X; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Li Q; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Yang P; Department of Hematology, Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Yu X; Department of Hematology, Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Gao S; Department of Hematology, Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Kumar S; Division of Hematology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Jin F; Department of Hematology, Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Dai Y; Laboratory of Cancer Precision Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.
Li W; Cancer Center, The First Hospital of Jilin University, Changchun, Jilin, China.
Pokaż więcej
Źródło :
Cancer medicine [Cancer Med] 2018 Aug; Vol. 7 (8), pp. 3899-3911. Date of Electronic Publication: 2018 Jun 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 1*
Tumor Microenvironment*
Aryl Hydrocarbon Receptor Nuclear Translocator/*metabolism
Multiple Myeloma/*genetics
Multiple Myeloma/*metabolism
Apoptosis/genetics ; Biomarkers, Tumor ; Bortezomib/pharmacology ; Cell Line, Tumor ; Cell Survival/genetics ; Drug Resistance, Neoplasm/genetics ; Gene Expression Regulation, Neoplastic ; Humans ; Hypoxia/genetics ; Hypoxia/metabolism ; Multiple Myeloma/mortality ; Multiple Myeloma/pathology ; NF-kappa B/metabolism ; Prognosis
Czasopismo naukowe
Tytuł :
Coding and Noncoding Variants in CFH Act Synergistically for Complement Activation in Immunoglobulin A Nephropathy.
Autorzy :
Guo WY; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Liu QZ; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China; Department of Medicine, The Second Hospital of Shandong University, Jinan, Shandong Province, China.
Zhu L; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China. Electronic address: .
Li ZY; Department of Nephrology, The First Affiliated Hospital of Baotou Medical College, Baotou, Inner Mongolia Province, China.
Meng SJ; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Shi SF; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Liu LJ; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Lv JC; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Hou P; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Zhang H; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Pokaż więcej
Źródło :
The American journal of the medical sciences [Am J Med Sci] 2018 Aug; Vol. 356 (2), pp. 114-120. Date of Electronic Publication: 2018 Apr 11.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Loci*
Genotype*
Polymorphism, Genetic*
Chromosomes, Human, Pair 1/*genetics
Glomerulonephritis, IGA/*genetics
Adult ; Chromosomes, Human, Pair 1/metabolism ; Complement Activation/genetics ; Complement C3/genetics ; Complement C3/metabolism ; Complement Factor H/genetics ; Complement Factor H/metabolism ; Female ; Genome-Wide Association Study ; Glomerulonephritis, IGA/metabolism ; Glomerulonephritis, IGA/pathology ; Humans ; Male
Czasopismo naukowe
Tytuł :
Single-cell exomes in an index case of amp1q21 multiple myeloma reveal more diverse mutanomes than the whole population.
Autorzy :
Bryant D; Tumour Immunogenetics Group, Cancer Sciences Academic Unit, and.
Tapper W; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Weston-Bell NJ; Tumour Immunogenetics Group, Cancer Sciences Academic Unit, and.
Bolomsky A; Department of Medicine I, Wilhelminen Cancer Research Institute, Wilhelminen Hospital, Vienna, Austria; and.
Song L; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Xu S; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Collins AR; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Zojer N; Department of Medicine I, Wilhelminen Cancer Research Institute, Wilhelminen Hospital, Vienna, Austria; and.
Sahota SS; Tumour Immunogenetics Group, Cancer Sciences Academic Unit, and.
Pokaż więcej
Źródło :
Blood [Blood] 2018 Jul 12; Vol. 132 (2), pp. 232-235. Date of Electronic Publication: 2018 May 18.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Exome*
Genetics, Population*
Mutation*
Single-Cell Analysis*/methods
Multiple Myeloma/*genetics
Genetic Variation ; Humans ; Whole Exome Sequencing
Raport
Tytuł :
Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer.
Autorzy :
Viswanathan SR; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Nogueira MF; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Buss CG; Harvard-MIT Department of Health Sciences and Technology, Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Boston, MA, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.
Krill-Burger JM; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wawer MJ; Chemical Biology and Therapeutics Science Program, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Malolepsza E; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Berger AC; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Choi PS; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Shih J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Taylor AM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Tanenbaum B; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pedamallu CS; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Cherniack AD; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tamayo P; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; UCSD Moores Cancer Center and Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Strathdee CA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lage K; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Carr SA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Schenone M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Bhatia SN; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Harvard-MIT Department of Health Sciences and Technology, Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Boston, MA, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Vazquez F; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tsherniak A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hahn WC; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Meyerson M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .; Broad Institute of MIT and Harvard, Cambridge, MA, USA. .; Harvard Medical School, Boston, MA, USA. .
Pokaż więcej
Źródło :
Nature genetics [Nat Genet] 2018 Jul; Vol. 50 (7), pp. 937-943. Date of Electronic Publication: 2018 Jun 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Neoplasms/*genetics
Animals ; Cell Line, Tumor ; Cell Nucleus/genetics ; Exons/genetics ; Female ; Gene Deletion ; HEK293 Cells ; Humans ; Karyopherins/genetics ; Mice ; Mice, Nude ; Nuclear Proteins/genetics ; RNA Splicing/genetics ; RNA, Small Interfering/genetics
Czasopismo naukowe
Tytuł :
Gastric carcinoma subsequent to myelodysplastic syndrome with t (1; 19) chromosome translocation: A rare case report and its potential mechanisms.
Autorzy :
Yu W; Cancer Center, the First Hospital of Jilin Unversity, Jilin Department of Hematology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai Research Center ,the Second Hospital of Jilin UniversityJilin Cardiovascular Surgery Department, the First Hospital of Jilin Unversity, Jilin, People's Republic of China.
Chen G
Sun Y
Gao S
Li W
Cui J
Sun J
Pokaż więcej
Źródło :
Medicine [Medicine (Baltimore)] 2018 Jul; Vol. 97 (30), pp. e11535.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Refractory*/diagnosis
Anemia, Refractory*/drug therapy
Anemia, Refractory*/etiology
Carcinoma*/complications
Carcinoma*/pathology
Carcinoma*/physiopathology
Carcinoma*/surgery
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Myelodysplastic Syndromes*/complications
Myelodysplastic Syndromes*/diagnosis
Myelodysplastic Syndromes*/genetics
Myelodysplastic Syndromes*/physiopathology
Stomach Neoplasms*/complications
Stomach Neoplasms*/pathology
Stomach Neoplasms*/physiopathology
Stomach Neoplasms*/surgery
Erythropoietin/*administration & dosage
Gastrectomy/*methods
Translocation, Genetic/*genetics
Bone Marrow/diagnostic imaging ; Bone Marrow/pathology ; Cytogenetic Analysis/methods ; Hematinics/administration & dosage ; Humans ; Male ; Middle Aged ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.
Autorzy :
Labreche K; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Kinnersley B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Berzero G; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; University of Pavia and C. Mondino National Institute of Neurology, Pavia, Italy.
Di Stefano AL; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Rahimian A; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Detrait I; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Marie Y; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Grenier-Boley B; Univ. Lille, Inserm, Institut Pasteur de Lille, U1167-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, 59000, Lille, France.
Hoang-Xuan K; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Delattre JY; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Idbaih A; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK. .
Sanson M; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Pokaż więcej
Źródło :
Acta neuropathologica [Acta Neuropathol] 2018 May; Vol. 135 (5), pp. 743-755. Date of Electronic Publication: 2018 Feb 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Brain Neoplasms/*genetics
Glioma/*genetics
Isocitrate Dehydrogenase/*genetics
Telomerase/*genetics
Brain Neoplasms/metabolism ; Case-Control Studies ; European Continental Ancestry Group/genetics ; Genetic Association Studies ; Genetic Loci ; Genetic Predisposition to Disease ; Glioma/metabolism ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; Preliminary Data ; Promoter Regions, Genetic ; Proto-Oncogene Proteins c-myc/genetics ; RNA, Messenger/metabolism ; Stathmin/genetics
Czasopismo naukowe
Tytuł :
Relation of locus 1p13 rs646776 polymorphism with the risk of preeclampsia.
Autorzy :
Emam RH; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Ghattas MH; b Faculty of Medicine, Department of Medical Biochemistry , Port Said University , Port Said , Egypt.
Mesbah NM; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Abo-Elmatty DM; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Mehanna ET; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Pokaż więcej
Źródło :
Hypertension in pregnancy [Hypertens Pregnancy] 2018 May; Vol. 37 (2), pp. 81-86. Date of Electronic Publication: 2018 Mar 25.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Chromosomes, Human, Pair 1*
Genetic Loci*
Genetic Predisposition to Disease*
Pre-Eclampsia/*genetics
Adult ; Female ; Gene Frequency ; Genotype ; Humans ; Polymorphism, Genetic ; Pregnancy ; Young Adult
Czasopismo naukowe
Tytuł :
Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic Analysis.
Autorzy :
Olszewska M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland.
Stokowy T; Department of Clinical Science, University of Bergen, Postboks 7804, 5020 Bergen, Norway.
Pollock N; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Huleyuk N; Institute of Hereditary Pathology, Ukrainian Academy of Medical Sciences, Lysenko Str. 31a, 79000 Lviv, Ukraine.
Georgiadis A; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Yatsenko S; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Zastavna D; Institute of Hereditary Pathology, Ukrainian Academy of Medical Sciences, Lysenko Str. 31a, 79000 Lviv, Ukraine.; Department of Biotechnology and Bioinformatics, Faculty of Chemistry, Rzeszow University of Technology, Al. Powst. Warszawy 6, 35-959 Rzeszow, Poland.
Yatsenko AN; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Kurpisz M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Jun 26; Vol. 21 (12). Date of Electronic Publication: 2020 Jun 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gene Rearrangement*
Translocation, Genetic*
Azoospermia/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 7/*genetics
Oligospermia/*genetics
Adult ; Azoospermia/pathology ; Comparative Genomic Hybridization ; Female ; Humans ; Karyotyping ; Male ; Middle Aged ; Oligospermia/pathology ; Pedigree
Czasopismo naukowe
Tytuł :
CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma.
Autorzy :
Xian RR; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Pathology and Lab Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Xie Y; Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.
Haley LM; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Yonescu R; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Pallavajjala A; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Pittaluga S; Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Jaffe ES; Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Duffield AS; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
McCall CM; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Department of Pathology, Duke University School of Medicine, Durham, NC, USA.
Gheith SMF; Pathology and Laboratory Medicine, Lehigh Valley Health Network, Allentown, PA, USA.
Gocke CD; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA. .; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA. .
Pokaż więcej
Źródło :
Blood cancer journal [Blood Cancer J] 2020 Jun 17; Vol. 10 (6), pp. 69. Date of Electronic Publication: 2020 Jun 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms :
CREB-Binding Protein/*genetics
Lymphoma, Follicular/*genetics
STAT6 Transcription Factor/*genetics
Adult ; Aged ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 16 ; Female ; Humans ; Lymphoma, Follicular/pathology ; Male ; Middle Aged ; Mutation ; Polymorphism, Single Nucleotide ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Xia-Gibbs Syndrome: A Psychiatric Perspective.
Autorzy :
Orji CS; Mental Health Intellectual Disability Team - Linn Dara Child and Adolescent Mental Health services.
Pokaż więcej
Źródło :
Irish medical journal [Ir Med J] 2020 Jun 11; Vol. 113 (6), pp. 107. Date of Electronic Publication: 2020 Jun 11.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Child Psychiatry*
Nervous System Diseases*/genetics
Nervous System Diseases*/psychology
Attention Deficit Disorder with Hyperactivity ; Child ; Chromosomes, Human, Pair 1/genetics ; DNA-Binding Proteins/genetics ; Developmental Disabilities ; Female ; Humans ; Intellectual Disability ; Ireland ; Muscle Hypotonia ; Mutation ; Phenotype ; Rare Diseases ; Risk ; Syndrome
Raport
Tytuł :
Clinical characteristics and prognostic values of 1p32.3 deletion detected through fluorescence in situ hybridization in patients with newly diagnosed multiple myeloma: a single-center study in China.
Autorzy :
Wang H; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Meng H; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Wang J; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Lou Y; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Zhou Y; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.
Lin P; Department of Hematology, Taizhou Central Hospital, Taizhou, 318000, China.
Li F; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.
Liu L; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Xu H; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Yang M; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Jin J; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China. .; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China. .
Pokaż więcej
Źródło :
Frontiers of medicine [Front Med] 2020 Jun; Vol. 14 (3), pp. 327-334. Date of Electronic Publication: 2019 Nov 29.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1/*genetics
Multiple Myeloma/*genetics
Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents/therapeutic use ; Biomarkers ; Bone Marrow Cells/metabolism ; Bortezomib/administration & dosage ; China ; Disease-Free Survival ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Kaplan-Meier Estimate ; L-Lactate Dehydrogenase/analysis ; Male ; Middle Aged ; Multiple Myeloma/drug therapy ; Multiple Myeloma/mortality ; Multivariate Analysis ; Prognosis ; Retrospective Studies ; Thalidomide/administration & dosage ; beta 2-Microglobulin/analysis
Czasopismo naukowe
Tytuł :
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
Autorzy :
Aagaard Nolting L; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Cox H; Clinical Genetics Unit, West Midlands Regional Clinical Genetics Unit Birmingham U.K., Birmingham, UK.
Kanani F; Sheffield Clinical Genetics Service, Northern General Hospital, Sheffield, UK.
Parker M; Sheffield Clinical Genetics Service, Northern General Hospital, Sheffield, UK.
Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Loddo S; Laboratory of Medical Genetics, Bambino Gesù Childrens' Hospital, Rome, Italy.
Novelli A; Laboratory of Medical Genetics, Bambino Gesù Childrens' Hospital, Rome, Italy.
Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Joss S; Clinical Genetics, West of Scotland Genetic Services, the Queen Elisabeth University Hospital, Glasgow, UK.
Jørgensen JP; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Pokaż więcej
Źródło :
Clinical genetics [Clin Genet] 2020 Jun; Vol. 97 (6), pp. 927-932. Date of Electronic Publication: 2020 Apr 01.
Typ publikacji :
Journal Article
MeSH Terms :
Blepharoptosis/*genetics
Calmodulin-Binding Proteins/*genetics
CapZ Actin Capping Protein/*genetics
Chromosome Disorders/*genetics
Learning Disabilities/*genetics
Ubiquitin-Protein Ligases/*genetics
Blepharoptosis/pathology ; Chromosome Deletion ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 1/genetics ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Genetic Association Studies ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Learning Disabilities/pathology ; Male ; Phenotype
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome; Ptosis, Hereditary Congenital 1
Czasopismo naukowe
Tytuł :
Gene-based and pathway-based testing for rare-variant association in affected sib pairs.
Autorzy :
Romanescu RG; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.; Centre for Healthcare Innovation, Rady Faculty of Health Science, University of Manitoba, Winnipeg, Manitoba, Canada.
Green J; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.
Andrulis IL; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Bull SB; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Pokaż więcej
Źródło :
Genetic epidemiology [Genet Epidemiol] 2020 Jun; Vol. 44 (4), pp. 368-381. Date of Electronic Publication: 2020 Apr 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Models, Genetic*
Alleles ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Chromosomes, Human, Pair 1 ; Female ; Gene Frequency ; Genetic Heterogeneity ; Genetic Linkage ; Haplotypes ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Proportional Hazards Models
Czasopismo naukowe
Tytuł :
Human Gene Sequences in SARS-CoV-2 and Other Viruses.
Autorzy :
Lehrer S; Department of Radiation Oncology Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A. .
Rheinstein PH; Severn Health Solutions, Severna Park, MD, U.S.A.
Pokaż więcej
Źródło :
In vivo (Athens, Greece) [In Vivo] 2020 Jun; Vol. 34 (3 Suppl), pp. 1633-1636.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Genome, Viral*
Betacoronavirus/*genetics
Exoribonucleases/*genetics
SARS Virus/*genetics
Viral Nonstructural Proteins/*genetics
Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 3/genetics ; DNA Viruses/genetics ; Endoribonucleases ; GPI-Linked Proteins/genetics ; Humans ; Middle East Respiratory Syndrome Coronavirus/genetics ; Netrins/genetics ; SARS-CoV-2 ; Sequence Alignment ; Sequence Homology, Nucleic Acid ; Species Specificity ; Viral Proteins/genetics
Czasopismo naukowe
Tytuł :
1p31.1 microdeletion including only NEGR1 gene in two patients.
Autorzy :
Tassano E; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: .
Uccella S; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.
Giacomini T; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.
Fiorio P; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Tavella E; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Malacarne M; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Gimelli G; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Coviello D; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ronchetto P; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Pokaż więcej
Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Jun; Vol. 63 (6), pp. 103919. Date of Electronic Publication: 2020 Mar 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gene Deletion*
Cell Adhesion Molecules, Neuronal/*genetics
Mental Disorders/*genetics
Nervous System Diseases/*genetics
Adolescent ; Chromosomes, Human, Pair 1/genetics ; Female ; GPI-Linked Proteins/genetics ; Humans ; Infant ; Male ; Mental Disorders/pathology ; Nervous System Diseases/pathology ; Phenotype
Czasopismo naukowe
Tytuł :
SARS-CoV-2 orf1b Gene Sequence in the NTNG1 Gene on Human Chromosome 1.
Autorzy :
Lehrer S; Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A. .
Rheinstein PH; Severn Health Solutions, Severna Park, MD, U.S.A.
Pokaż więcej
Źródło :
In vivo (Athens, Greece) [In Vivo] 2020 Jun; Vol. 34 (3 Suppl), pp. 1629-1632.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Genes, Viral*
Betacoronavirus/*genetics
Chromosomes, Human, Pair 1/*genetics
Exoribonucleases/*genetics
Netrin-1/*genetics
Viral Nonstructural Proteins/*genetics
Viral Proteins/*genetics
Animals ; Antiviral Agents/pharmacology ; Antiviral Agents/therapeutic use ; Base Sequence ; COVID-19 ; Coronavirus Infections/drug therapy ; DNA, Complementary/genetics ; Endoribonucleases/genetics ; Haloperidol/analogs & derivatives ; Haloperidol/pharmacology ; Haloperidol/therapeutic use ; Humans ; Introns/genetics ; Pan troglodytes/genetics ; Pandemics ; Pneumonia, Viral/drug therapy ; Polyproteins ; RNA, Viral/genetics ; SARS-CoV-2 ; Schizophrenia/drug therapy ; Schizophrenia/genetics ; Sequence Alignment ; Sequence Homology, Nucleic Acid ; Species Specificity
Czasopismo naukowe
Tytuł :
1p/19q co-deleted fibrillary astrocytomas: Not everything that is co-deleted is an oligodendroglioma.
Autorzy :
Andrews C; University School and Cleveland Clinic Department of Anatomic Pathology, USA.
Prayson RA; University School and Cleveland Clinic Department of Anatomic Pathology, USA. Electronic address: .
Pokaż więcej
Źródło :
Annals of diagnostic pathology [Ann Diagn Pathol] 2020 Jun; Vol. 46, pp. 151519. Date of Electronic Publication: 2020 Apr 08.
Typ publikacji :
Journal Article
MeSH Terms :
Astrocytoma/*genetics
Brain Neoplasms/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 19/*genetics
Adult ; Aged ; Aged, 80 and over ; Astrocytoma/diagnosis ; Biomarkers, Tumor/analysis ; Brain Neoplasms/diagnosis ; Chromosome Deletion ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Oligodendroglioma/diagnosis ; Oligodendroglioma/genetics ; Retrospective Studies
Czasopismo naukowe
Tytuł :
5-ALA False-Positive in Anaplastic Oligodendroglioma, IDH-mutant and 1p/19q-codeleted.
Autorzy :
La Rocca G; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy, Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Barresi V; Department of Diagnostics and Public Health, Section of Anatomical Pathology, University And Hospital Trust of Verona, Verona, Italy.
Sabatino G; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy, Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Altieri R; Division of Neurosurgery, Department of Neurosciences Policlinico 'G.Rodolico' University Hospital, Catania, Italy.
Ius T; Neurosurgery Unit, Department of Neuroscience, Santamaria Dellamisericordia, University Hospital, Udine, Italy.
Olivi A; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy.
Mazzucchi E; Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Pignotti F; Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Della Pepa GM; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy.
Pokaż więcej
Źródło :
Surgical technology international [Surg Technol Int] 2020 May 28; Vol. 36, pp. 453-456.
Typ publikacji :
Journal Article
MeSH Terms :
Brain Neoplasms*
Glioma*
Oligodendroglioma*
Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 19 ; Fluorescence ; Humans ; Neoplasm Recurrence, Local
Czasopismo naukowe
Tytuł :
Chromosome 1 abnormalities and survival of patients with multiple myeloma in the era of novel agents.
Autorzy :
Giri S; Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL.; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.
Huntington SF; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Wang R; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Chronic Disease Epidemiology and.
Zeidan AM; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Podoltsev N; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Gore SD; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Ma X; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Chronic Disease Epidemiology and.
Gross CP; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.; Department of Chronic Disease Epidemiology and.
Davidoff AJ; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Health Policy and Management, Yale School of Public Health, New Haven, CT.
Neparidze N; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Pokaż więcej
Źródło :
Blood advances [Blood Adv] 2020 May 26; Vol. 4 (10), pp. 2245-2253.
Typ publikacji :
Journal Article
MeSH Terms :
Multiple Myeloma*/diagnosis
Multiple Myeloma*/drug therapy
Multiple Myeloma*/genetics
Aged ; Chromosome Aberrations ; Chromosomes, Human, Pair 1/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Neoplasm Staging
Czasopismo naukowe
Tytuł :
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.
Autorzy :
Avitabile M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Succoio M; CEINGE Biotecnologie Avanzate, Naples, Italy.
Testori A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
Cardinale A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Vaksman Z; Division of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Lasorsa VA; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Cantalupo S; IRCCS SDN, Naples, Italy.
Esposito M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
Cimmino F; CEINGE Biotecnologie Avanzate, Naples, Italy.
Montella A; CEINGE Biotecnologie Avanzate, Naples, Italy.
Formicola D; IRCCS SDN, Naples, Italy.
Koster J; Department of Oncogenomics, Academic Medical Center, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands.
Andreotti V; Dipartimento di Medicina Oncologica Integrata, Università degli Studi di Genova,Genova, Italy.
Ghiorzo P; Dipartimento di Medicina Oncologica Integrata, Università degli Studi di Genova,Genova, Italy.
Romano MF; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
Staibano S; Dipartimento di Scienze Biomediche Avanzate, Università degli Studi di Napoli Federico II, Naples, Italy.
Scalvenzi M; Dipartimento di Medicina clinica e Chirurgia, Università degli Studi di Napoli Federico II, Naples, Italy.
Ayala F; National Cancer Institute, 'Fondazione G. Pascale'-IRCCS, Naples, Italy.
Hakonarson H; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Corrias MV; Experimental Therapy in Oncology, Istituto Giannina Gaslini, Genova, Italy.
Devoto M; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Translational and Precision Medicine, University of Rome Sapienza, Rome, Italy.
Law MH; Statistical Genetics, QIMR Berghofer Medical Research Institute Brisbane, Queensland, Australia.
Iles MM; Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Brown K; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Diskin S; Division of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Zambrano N; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Iolascon A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Capasso M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.; IRCCS SDN, Naples, Italy.
Pokaż więcej
Źródło :
Carcinogenesis [Carcinogenesis] 2020 May 14; Vol. 41 (3), pp. 284-295.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
MeSH Terms :
Adrenal Gland Neoplasms/*genetics
Melanoma/*genetics
Monocarboxylic Acid Transporters/*genetics
Neuroblastoma/*genetics
Skin Neoplasms/*genetics
Symporters/*genetics
Adrenal Gland Neoplasms/pathology ; Cell Differentiation/genetics ; Cell Movement/genetics ; Chromosomes, Human, Pair 1/genetics ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Melanoma/pathology ; Neural Crest/pathology ; Neuroblastoma/pathology ; Polymorphism, Single Nucleotide/genetics ; Skin Neoplasms/pathology
SCR Disease Name :
Melanoma, Cutaneous Malignant; Neural crest tumor
Czasopismo naukowe
Tytuł :
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.
Autorzy :
Nistico' D; University of Trieste, Trieste, Italy. .
Guidolin F; University of Padua, Padua, Italy.
Navarra CO; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Bobbo M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Magnolato A; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
D'Adamo AP; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Giorgio E; Department Medical Sciences, University of Torino, Torino, Italy.
Pivetta B; Division of Medical Genetics, AAS n.5 Friuli Occidentale, Pordenone, Italy.
Barbi E; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Gasparini P; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Cadenaro M; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Sirchia F; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Pokaż więcej
Źródło :
BMC pediatrics [BMC Pediatr] 2020 May 09; Vol. 20 (1), pp. 201. Date of Electronic Publication: 2020 May 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Germ Cells*
Mosaicism*
Child ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 1 ; Humans ; In Situ Hybridization, Fluorescence ; Italy
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Deep sequencing of myxoinflammatory fibroblastic sarcoma.
Autorzy :
Arbajian E; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Hofvander J; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Magnusson L; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Mertens F; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics and Pathology, Division of Laboratory Medicine, Lund, Sweden.
Pokaż więcej
Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2020 May; Vol. 59 (5), pp. 309-317. Date of Electronic Publication: 2020 Jan 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biomarkers, Tumor/*genetics
Fibrosarcoma/*genetics
Myxosarcoma/*genetics
Adult ; Aged ; Aged, 80 and over ; Antigens, Neoplasm/genetics ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 10 ; Female ; Fibrosarcoma/pathology ; Gene Rearrangement ; High-Throughput Nucleotide Sequencing/methods ; Histone Acetyltransferases/genetics ; Humans ; Hyaluronoglucosaminidase/genetics ; Male ; Middle Aged ; Myxosarcoma/pathology ; Receptors, Transforming Growth Factor beta/genetics ; Transcription Factors/genetics ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1;8)(p22.1;q22q23).
Autorzy :
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: .
Wu CY; Department of Obstetrics and Gynecology, Tatung MacKay Memorial Hospital, Tatung, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd., Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Pokaż więcej
Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2020 May; Vol. 59 (3), pp. 437-439.
Typ publikacji :
Case Reports
MeSH Terms :
Comparative Genomic Hybridization*
Genetic Counseling*
In Situ Hybridization, Fluorescence*
Chromosome Disorders/*diagnosis
Prenatal Diagnosis/*methods
Adult ; Amniocentesis ; Chromosome Disorders/embryology ; Chromosome Duplication ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 8 ; Cytogenetic Analysis ; Female ; Humans ; Infant, Newborn ; Karyotype ; Live Birth ; Male ; Monosomy/diagnosis ; Pregnancy
SCR Disease Name :
Chromosome 8 deletion
Raport
Tytuł :
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.
Autorzy :
Pilz RA; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Schwefel K; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Weise A; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Demmer P; Institute of Medical Diagnostics, IMD Potsdam, Potsdam, Germany.
Spuler A; Department of Neurosurgery, Helios Hospital Berlin Buch, Berlin, Germany.
Spiegler S; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Gilberg E; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Felbor U; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Rath M; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2020 Apr 14; Vol. 10 (1), pp. 6306. Date of Electronic Publication: 2020 Apr 14.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Inversion*
Brain/*abnormalities
Carrier Proteins/*genetics
Hemangioma, Cavernous, Central Nervous System/*genetics
Spinal Cord/*abnormalities
Brain/blood supply ; Brain/diagnostic imaging ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 7/genetics ; Genetic Counseling ; Genetic Testing ; Hemangioma, Cavernous, Central Nervous System/diagnosis ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pedigree ; Spinal Cord/blood supply ; Spinal Cord/diagnostic imaging ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Daratumumab in high-risk relapsed/refractory multiple myeloma patients: adverse effect of chromosome 1q21 gain/amplification and GEP70 status on outcome.
Autorzy :
Mohan M; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Weinhold N; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Schinke C; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Thanedrarajan S; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Rasche L; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Sawyer JR; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Tian E; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
van Rhee F; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Zangari M; Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Pokaż więcej
Źródło :
British journal of haematology [Br J Haematol] 2020 Apr; Vol. 189 (1), pp. 67-71. Date of Electronic Publication: 2019 Dec 09.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Amplification*
Multiple Myeloma*/drug therapy
Multiple Myeloma*/genetics
Multiple Myeloma*/mortality
Antibodies, Monoclonal/*administration & dosage
Chromosomes, Human, Pair 1/*genetics
Adult ; Aged ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Risk Assessment ; Survival Rate
Czasopismo naukowe
Tytuł :
Comparison of 1p and 19q status of glioblastoma by whole exome sequencing, array-comparative genomic hybridization, and fluorescence in situ hybridization.
Autorzy :
Sim J; Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
Nam DH; Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Kim Y; Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
Lee IH; Samsung Biomedical Research Institute, and Institute for Refractory Cancer Research, Samsung Medical Center, Seoul, Republic of Korea.
Choi JW; Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Sa JK; Samsung Biomedical Research Institute, and Institute for Refractory Cancer Research, Samsung Medical Center, Seoul, Republic of Korea.
Suh YL; Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea. .
Pokaż więcej
Źródło :
Medical oncology (Northwood, London, England) [Med Oncol] 2018 Mar 29; Vol. 35 (5), pp. 60. Date of Electronic Publication: 2018 Mar 29.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Brain Neoplasms/*genetics
Glioblastoma/*genetics
Adult ; Comparative Genomic Hybridization ; Female ; Formaldehyde ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Paraffin Embedding ; Tissue Fixation ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Rapid emergence of independent "chromosomal lineages" in silvered-leaf monkey triggered by Y/autosome translocation.
Autorzy :
Capozzi O; Department of Biology, University of Bari, Bari, Italy.
Stanyon R; Department of Biology, University of Florence, 50122, Florence, Italy. .
Archidiacono N; Department of Biology, University of Bari, Bari, Italy.
Ishida T; Department of Biological Sciences, Human Biology & Genetics, Graduate School of Science, University of Tokyo, 113-0033, Tokyo, Japan.
Romanenko SA; Institute of Molecular and Cellular Biology SB RAS, 630090, Novosibirsk, Russia.; Novosibirsk State University, 630090, Novosibirsk, Russia.
Rocchi M; Department of Biology, University of Bari, Bari, Italy. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2018 Feb 19; Vol. 8 (1), pp. 3250. Date of Electronic Publication: 2018 Feb 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Gene Rearrangement*
Translocation, Genetic*
Y Chromosome*
Colobinae/*genetics
Animals ; Female ; Genomic Instability ; Humans ; Male
Czasopismo naukowe
Tytuł :
Regional specificity of 1p/19q co-deletion combined with radiological features for predicting the survival outcomes of anaplastic oligodendroglial tumor patients.
Autorzy :
Wang K; Department of Nuclear Medicine, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China.
Wang Y; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China.; Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, 6, Tiantanxili, Beijing, 10050, People's Republic of China.
Fan X; Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, 6, Tiantanxili, Beijing, 10050, People's Republic of China.
Li Y; Department of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China.
Liu X; Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, 6, Tiantanxili, Beijing, 10050, People's Republic of China.
Wang J; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China.
Ai L; Department of Nuclear Medicine, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China.
Dai J; Department of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China.
Jiang T; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 10050, People's Republic of China. .; Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, 6, Tiantanxili, Beijing, 10050, People's Republic of China. .; Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing, 10050, People's Republic of China. .
Pokaż więcej
Źródło :
Journal of neuro-oncology [J Neurooncol] 2018 Feb; Vol. 136 (3), pp. 523-531. Date of Electronic Publication: 2017 Dec 11.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Brain/*diagnostic imaging
Brain Neoplasms/*diagnosis
Oligodendroglioma/*diagnosis
Adolescent ; Adult ; Aged ; Brain Neoplasms/genetics ; Brain Neoplasms/mortality ; Female ; Follow-Up Studies ; Humans ; In Situ Hybridization, Fluorescence ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Oligodendroglioma/genetics ; Oligodendroglioma/mortality ; Prognosis ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
The exomic landscape of t(14;18)-negative diffuse follicular lymphoma with 1p36 deletion.
Autorzy :
Zamò A; Department of Diagnostics and Public Health, University of Verona, Verona, Italy.; Alexander von Humboldt Fellow, Institute of Pathology, University of Würzburg, Würzburg, Germany.
Pischimarov J; Institute of Pathology and Comprehensive Cancer Center Mainfranken (CCC MF), University of Würzburg, Würzburg, Germany.
Horn H; Dr Margarete Fischer-Bosch-Institute for Clinical Pharmacology, Stuttgart, Germany.; University of Tübingen, Tübingen, Germany.
Ott G; Department of Clinical Pathology, Robert-Bosch-Krankenhaus, Stuttgart, Germany.
Rosenwald A; Institute of Pathology and Comprehensive Cancer Center Mainfranken (CCC MF), University of Würzburg, Würzburg, Germany.
Leich E; Institute of Pathology and Comprehensive Cancer Center Mainfranken (CCC MF), University of Würzburg, Würzburg, Germany.
Pokaż więcej
Źródło :
British journal of haematology [Br J Haematol] 2018 Feb; Vol. 180 (3), pp. 391-394. Date of Electronic Publication: 2017 Nov 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Exome*
Genetic Predisposition to Disease*
Translocation, Genetic*
Lymphoma, Follicular/*genetics
Lymphoma, Follicular/*pathology
Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 18 ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Molecular basis of the Duffy blood group system.
Autorzy :
Höher G; Postgraduate Programme in Biosciences, Federal University of Health Sciences of Porto Alegre-UFCSPA, Porto Alegre, Brazil.
Fiegenbaum M; Postgraduate Programme in Biosciences, Federal University of Health Sciences of Porto Alegre-UFCSPA, Porto Alegre, Brazil.; Department of Basic Health Sciences, Federal University of Health Sciences of Porto Alegre-UFCSPA, Porto Alegre, Brazil.
Almeida S; Postgraduate Programme in Biosciences, Federal University of Health Sciences of Porto Alegre-UFCSPA, Porto Alegre, Brazil.; Department of Basic Health Sciences, Federal University of Health Sciences of Porto Alegre-UFCSPA, Porto Alegre, Brazil.
Pokaż więcej
Źródło :
Blood transfusion = Trasfusione del sangue [Blood Transfus] 2018 Jan; Vol. 16 (1), pp. 93-100. Date of Electronic Publication: 2017 Jan 30.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Alleles*
Duffy Blood-Group System*/biosynthesis
Duffy Blood-Group System*/genetics
Gene Expression Regulation*
Homozygote*
Point Mutation*
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 1/metabolism ; Humans
Czasopismo naukowe
Tytuł :
Comparative Analysis of miRNA Expression Profiles of Multiple Myeloma with 1q21 Gains and Normal FISH.
Autorzy :
Cui Y
Liu Y
Wang D
Liu Y
Liu L
Fang B
Pokaż więcej
Źródło :
Acta haematologica [Acta Haematol] 2018; Vol. 139 (2), pp. 96-100. Date of Electronic Publication: 2018 Feb 02.
Typ publikacji :
Letter
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 1*
Transcriptome*
MicroRNAs/*genetics
Multiple Myeloma/*genetics
Adult ; Aged ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; In Situ Hybridization, Fluorescence ; Middle Aged ; Multiple Myeloma/diagnosis ; Neoplasm Staging ; Oligonucleotide Array Sequence Analysis
Opinia redakcyjna
Tytuł :
Pediatric acute lymphoblastic leukemia with t(1;19)/TCF3-PBX1 in Taiwan.
Autorzy :
Yen HJ; Department of Pediatrics, Taipei Veterans General Hospital and School of Medicine, National Yang-Ming University, Taipei, Taiwan.; Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
Chen SH; Department of Hematology-Oncology, Chang Gung Children's Hospital-Linkou, Taoyuan, Taiwan.
Chang TY; Department of Hematology-Oncology, Chang Gung Children's Hospital-Linkou, Taoyuan, Taiwan.
Yang CP; Department of Hematology-Oncology, Chang Gung Children's Hospital-Linkou, Taoyuan, Taiwan.
Lin DT; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Hung IJ; Department of Hematology-Oncology, Chang Gung Children's Hospital-Linkou, Taoyuan, Taiwan.
Lin KH; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Chen JS; Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
Hsiao CC; Department of Pediatrics, Chang Gung Children's Hospital-Kaohsiung, Kaohsiung, Taiwan.
Chang TT; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Chang TK; Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Peng CT; Department of Pediatric Hemato/Oncology, Children's Hospital of China Medical University, Taichung, Taiwan.
Lin MT; Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.
Jaing TH; Department of Hematology-Oncology, Chang Gung Children's Hospital-Linkou, Taoyuan, Taiwan.
Liu HC; Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medical College, Taipei, Taiwan.
Jou ST; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Lu MY; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Cheng CN; Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
Sheen JM; Department of Pediatrics, Chang Gung Children's Hospital-Kaohsiung, Kaohsiung, Taiwan.
Chiou SS; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Hung GY; Department of Pediatrics, Taipei Veterans General Hospital and School of Medicine, National Yang-Ming University, Taipei, Taiwan.; Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
Wu KH; Department of Pediatric Hemato/Oncology, Children's Hospital of China Medical University, Taichung, Taiwan.
Yeh TC; Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medical College, Taipei, Taiwan.
Wang SC; Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.
Chen RL; Department of Pediatrics, Koo Foundation Sun-Yat-Sen Cancer Center, Taipei, Taiwan.
Chang HH; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Yang YL; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Chen SH; Department of Pediatrics, Taipei Medical University-Shuang Ho Hospital, Taipei, Taiwan.
Cheng SN; Department of Pediatrics, Tri-Service General Hospital, Taipei, Taiwan.
Chang YH; Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
Chen BW; Department of Pediatrics, Koo Foundation Sun-Yat-Sen Cancer Center, Taipei, Taiwan.
Hsieh YL; Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan.
Huang FL; Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Ho WL; Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan.; School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan.
Wang JL; Department of Pediatrics, Wanfang Hospital Taipei Medical University, Taipei, Taiwan.
Chang CY; Department of Pediatrics, Taipei Medical University Hospital, Taipei, Taiwan.
Chao YH; Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Lin PC; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Chen YC; Department of Pediatrics, Chang Gung Children's Hospital-Kaohsiung, Kaohsiung, Taiwan.
Liao YM; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Lin TH; Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.
Shih LY; Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.; Chang Gung University, Taoyuan, Taiwan.
Liang DC; Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medical College, Taipei, Taiwan.
Pokaż więcej
Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2017 Oct; Vol. 64 (10). Date of Electronic Publication: 2017 Apr 24.
Typ publikacji :
Clinical Trial; Journal Article; Multicenter Study
MeSH Terms :
Chromosomes, Human, Pair 1*/genetics
Chromosomes, Human, Pair 1*/metabolism
Chromosomes, Human, Pair 19*/genetics
Chromosomes, Human, Pair 19*/metabolism
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/metabolism
Translocation, Genetic*
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Oncogene Proteins, Fusion/genetics ; Oncogene Proteins, Fusion/metabolism ; Taiwan
Czasopismo naukowe
Tytuł :
Spontaneous molecular response of IDH2 acute myeloid leukemia.
Autorzy :
Khalife-Hachem S; Département d'Hématologie, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.
Pegliasco J; Département d'Hématologie, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.
Saada V; Département de Biologie et Pathologie médicales, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.
Hernandez E; CHIV, 94190, Villeneuve-Saint-Georges, France.
Camara-Clayette V; Laboratoire de Recherche Translationnelle, AMMICa INSERMUS23/CNRS UMS3655, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Cotteret S; Département de Biologie et Pathologie médicales, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.
Benabdelali R; Laboratoire CERBA, 95310, Saint-Ouen-l'Aumône, France.
de Botton S; Département d'Hématologie, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.; Inserm U1170, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Marzac C; Département de Biologie et Pathologie médicales, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.; Inserm U1170, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Micol JB; Département d'Hématologie, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France. .; Inserm U1170, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France. .
Pokaż więcej
Źródło :
Annals of hematology [Ann Hematol] 2020 Feb; Vol. 99 (2), pp. 353-354. Date of Electronic Publication: 2019 Dec 09.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Mutation, Missense*
Neoplasm Regression, Spontaneous*
Point Mutation*
Isocitrate Dehydrogenase/*genetics
Leukemia, Myelomonocytic, Acute/*genetics
Neoplasm Proteins/*genetics
Abnormal Karyotype ; Alleles ; Bone Marrow/pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 1/ultrastructure ; Clone Cells ; Fatal Outcome ; Female ; Humans ; Leukemia, Myelomonocytic, Acute/complications ; Leukemia, Myelomonocytic, Acute/pathology ; Lymphohistiocytosis, Hemophagocytic/etiology ; Middle Aged
Raport
Tytuł :
Blinatumomab-induced lineage switch of B-ALL with t(4:11)(q21;q23) KMT2A/AFF1 into an aggressive AML: pre- and post-switch phenotypic, cytogenetic and molecular analysis.
Autorzy :
Haddox CL; Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Mangaonkar AA; Division of Hematology/Oncology, Mayo Clinic, Rochester, MN, USA.
Chen D; Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Shi M; Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
He R; Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Oliveira JL; Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Litzow MR; Division of Hematology/Oncology, Mayo Clinic, Rochester, MN, USA.
Al-Kali A; Division of Hematology/Oncology, Mayo Clinic, Rochester, MN, USA.
Hogan WJ; Division of Hematology/Oncology, Mayo Clinic, Rochester, MN, USA.
Elliott MA; Division of Hematology/Oncology, Mayo Clinic, Rochester, MN, USA.
Pokaż więcej
Źródło :
Blood cancer journal [Blood Cancer J] 2017 Sep 15; Vol. 7 (9), pp. e607. Date of Electronic Publication: 2017 Sep 15.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*/genetics
Chromosomes, Human, Pair 1*/metabolism
Chromosomes, Human, Pair 11*/genetics
Chromosomes, Human, Pair 11*/metabolism
DNA-Binding Proteins*/genetics
DNA-Binding Proteins*/metabolism
Histone-Lysine N-Methyltransferase*/genetics
Histone-Lysine N-Methyltransferase*/metabolism
Myeloid-Lymphoid Leukemia Protein*/genetics
Myeloid-Lymphoid Leukemia Protein*/metabolism
Oncogene Proteins, Fusion*/genetics
Oncogene Proteins, Fusion*/metabolism
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/blood
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/pathology
Transcriptional Elongation Factors*/genetics
Transcriptional Elongation Factors*/metabolism
Translocation, Genetic*
Antibodies, Bispecific/*administration & dosage
Adult ; Female ; Humans
Raport
Tytuł :
[Prognostic Impact of 1q21 Amplification in Newly Diagnosed Multiple Myeloma Patients Receiving Bortezomib-Based First-Line Treatment].
Autorzy :
Deng P; Department of Science and Education, The First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China.
Zhou YL; Department of Hematology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China.
Wei YL; Department of Hematology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China.
Li P; Department of Hematology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China.
Li F; Department of Hematology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China. E-mail: .
Pokaż więcej
Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2017 Dec; Vol. 25 (6), pp. 1696-1701.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 1*
Antineoplastic Agents/*therapeutic use
Bortezomib/*therapeutic use
Multiple Myeloma/*genetics
Adult ; Aged ; Aged, 80 and over ; Chromosome Deletion ; Disease-Free Survival ; Female ; Gene Amplification ; Humans ; Male ; Middle Aged ; Multiple Myeloma/drug therapy ; Prognosis
Czasopismo naukowe
Tytuł :
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.
Autorzy :
Park HY; Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea.
Kim M; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.; Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Jang W; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.; Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Jang DH; Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea. .
Pokaż więcej
Źródło :
Annals of laboratory medicine [Ann Lab Med] 2017 Nov; Vol. 37 (6), pp. 563-565.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Chromosomes, Human, Pair 1*
DNA-Binding Proteins/*genetics
Brain/diagnostic imaging ; Child ; Comparative Genomic Hybridization ; Gene Deletion ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia/diagnosis ; Phenotype
Raport
Tytuł :
Chromosome 1q21.3 amplification is a trackable biomarker and actionable target for breast cancer recurrence.
Autorzy :
Goh JY; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Feng M; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Wang W; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Oguz G; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Yatim SMJM; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Lee PL; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Bao Y; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Lim TH; Cytogenetics Laboratory, Department of Pathology, Singapore General Hospital, Singapore.
Wang P; Cancer Research Institute and School of Pharmacy, Jinan University, Guangzhou, China.
Tam WL; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.; Cancer Science Institute of Singapore, National University of Singapore, Singapore.
Kodahl AR; Department of Oncology, Odense University Hospital, Odense, Denmark.
Lyng MB; Department of Cancer and Inflammation Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
Sarma S; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Lin SY; Department of Translational Molecular Medicine, John Wayne Cancer Institute, Santa Monica, California, USA.
Lezhava A; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Yap YS; Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Lim AST; Cytogenetics Laboratory, Department of Pathology, Singapore General Hospital, Singapore.
Hoon DSB; Department of Translational Molecular Medicine, John Wayne Cancer Institute, Santa Monica, California, USA.
Ditzel HJ; Department of Oncology, Odense University Hospital, Odense, Denmark.; Department of Cancer and Inflammation Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
Lee SC; Cancer Science Institute of Singapore, National University of Singapore, Singapore.; Department of Haematology-Oncology, National University Cancer Institute, National University Health System, Singapore.
Tan EY; Department of General Surgery, Tan Tock Seng Hospital, Singapore.; Institute of Molecular and Cellular Biology, A*STAR, Biopolis, Singapore.
Yu Q; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Cancer Research Institute and School of Pharmacy, Jinan University, Guangzhou, China.; Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore.
Pokaż więcej
Źródło :
Nature medicine [Nat Med] 2017 Nov; Vol. 23 (11), pp. 1319-1330. Date of Electronic Publication: 2017 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Biomarkers, Tumor/*metabolism
Breast Neoplasms/*pathology
Neoplasm Recurrence, Local/*genetics
Animals ; Antineoplastic Agents/therapeutic use ; Breast Neoplasms/drug therapy ; Bridged-Ring Compounds/therapeutic use ; Cell-Free Nucleic Acids/genetics ; Disease Progression ; Female ; Heterografts ; Humans ; In Situ Hybridization, Fluorescence ; Mice ; Polymerase Chain Reaction ; Pyrimidines/therapeutic use ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Therapy-related Acute Leukemia With Mixed Phenotype and Novel t(1: 6)(q25;p23) After Treatment for High-risk Neuroblastoma.
Autorzy :
Whittle SB; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine/Texas Children's Hospital †Department of Pathology and Immunology ‡Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Punia JN
López-Terrada D
Gaikwad A
Hampton OA
Heczey A
Pokaż więcej
Źródło :
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2017 Nov; Vol. 39 (8), pp. e486-e488.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 6*
Neoplasms, Second Primary*
Phenotype*
Translocation, Genetic*
Leukemia, Myeloid, Acute/*diagnosis
Leukemia, Myeloid, Acute/*etiology
Neuroblastoma/*complications
Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Biopsy ; Bone Marrow/pathology ; Child, Preschool ; Chromosome Banding ; Fatal Outcome ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects ; Hematopoietic Stem Cell Transplantation/methods ; Humans ; Immunophenotyping ; Leukemia, Myeloid, Acute/drug therapy ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/etiology ; Neuroblastoma/diagnosis ; Neuroblastoma/therapy ; Transplantation Conditioning/adverse effects ; Transplantation Conditioning/methods
Czasopismo naukowe
Tytuł :
Molecular classification of adult diffuse gliomas: conflicting IDH1/IDH2, ATRX, and 1p/19q results.
Autorzy :
Ballester LY; Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX 77030; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030.
Huse JT; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030.
Tang G; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030.
Fuller GN; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030. Electronic address: .
Pokaż więcej
Źródło :
Human pathology [Hum Pathol] 2017 Nov; Vol. 69, pp. 15-22. Date of Electronic Publication: 2017 May 23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Biomarkers, Tumor*/analysis
Biomarkers, Tumor*/genetics
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Mutation*
Brain Neoplasms/*genetics
Glioma/*genetics
Isocitrate Dehydrogenase/*genetics
X-linked Nuclear Protein/*analysis
Adult ; Aged ; Aged, 80 and over ; Brain Neoplasms/classification ; Brain Neoplasms/enzymology ; Brain Neoplasms/pathology ; DNA Mutational Analysis ; Diagnosis, Differential ; Female ; Genetic Predisposition to Disease ; Glioma/classification ; Glioma/enzymology ; Glioma/pathology ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Phenotype ; Predictive Value of Tests ; Young Adult
Czasopismo naukowe
Tytuł :
T2-FLAIR Mismatch, an Imaging Biomarker for IDH and 1p/19q Status in Lower-grade Gliomas: A TCGA/TCIA Project.
Autorzy :
Patel SH; Department of Radiology and Medical Imaging, University of Virginia Health System, Charlottesville, Virginia. .
Poisson LM; Department of Public Health, Henry Ford Health System, Detroit, Michigan.
Brat DJ; Department of Pathology and Laboratory Medicine, Winship Cancer Institute at Emory University, Atlanta, Georgia.
Zhou Y; Department of Public Health, Henry Ford Health System, Detroit, Michigan.
Cooper L; Department of Biomedical Informatics, Emory School of Medicine, Atlanta, Georgia.; Department of Biomedical Engineering, Georgia Institute of Technology/Emory University School of Medicine, Atlanta, Georgia.
Snuderl M; Department of Pathology, NYU Langone Medical Center, New York, New York.
Thomas C; Department of Pathology, NYU Langone Medical Center, New York, New York.
Franceschi AM; Department of Radiology, NYU Langone Medical Center, New York, New York.
Griffith B; Department of Radiology, Henry Ford Health System, Detroit, Michigan.
Flanders AE; Department of Radiology, Thomas Jefferson University, Philadelphia, Pennsylvania.
Golfinos JG; Department of Neurosurgery, NYU Langone Medical Center, New York, New York.
Chi AS; Department of Neurosurgery, NYU Langone Medical Center, New York, New York.; Division of Neuro-Oncology, NYU Langone Medical Center, New York, New York.
Jain R; Department of Radiology, NYU Langone Medical Center, New York, New York. .; Department of Neurosurgery, NYU Langone Medical Center, New York, New York.
Pokaż więcej
Źródło :
Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2017 Oct 15; Vol. 23 (20), pp. 6078-6085. Date of Electronic Publication: 2017 Jul 27.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Magnetic Resonance Imaging*
Brain Neoplasms/*diagnosis
Brain Neoplasms/*genetics
Glioma/*diagnosis
Glioma/*genetics
Adult ; Aged ; Aged, 80 and over ; Biomarkers ; Brain Neoplasms/mortality ; Female ; Glioma/mortality ; Humans ; Image Processing, Computer-Assisted ; Male ; Middle Aged ; Neoplasm Grading ; Neoplasm Staging ; Prognosis ; Young Adult
Czasopismo naukowe
Tytuł :
Deconvolution of DNA methylation identifies differentially methylated gene regions on 1p36 across breast cancer subtypes.
Autorzy :
Titus AJ; Program in Quantitative Biomedical Sciences, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA.; Department of Epidemiology, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA.
Way GP; Genomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Johnson KC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; Department of Epidemiology, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA.
Christensen BC; Department of Epidemiology, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA. .; Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA. .; Department of Community and Family Medicine, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2017 Sep 14; Vol. 7 (1), pp. 11594. Date of Electronic Publication: 2017 Sep 14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
DNA Methylation*
Gene Expression Regulation, Neoplastic*
Breast Neoplasms/*genetics
Breast Neoplasms/*pathology
Computational Biology/methods ; CpG Islands ; DNA Copy Number Variations ; Epigenesis, Genetic ; Female ; Gene Expression Profiling ; Humans ; Molecular Sequence Annotation ; Neoplasm Staging ; Promoter Regions, Genetic ; Reproducibility of Results
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies