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 :
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 :
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 :
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 :
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 :
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 :
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 :
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 :
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 :
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 :
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

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