Informacja

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

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Chromosome Deletion"" wg kryterium: Temat


Tytuł :
Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment.
Autorzy :
Zhang M; Novogene Co., Ltd, Building 301, Beijing, China.
Luo JL; Bioinformatics and Biostatistics Support Hub, University of Leicester, Leicester, UK.
Sun Q; Novogene Co., Ltd, Building 301, Beijing, China.
Harber J; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Dawson AG; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Department of Cardiothoracic Surgery, Glenfield Hospital, Leicester, UK.
Nakas A; Department of Cardiothoracic Surgery, Glenfield Hospital, Leicester, UK.
Busacca S; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Sharkey AJ; University of Sheffield Teaching Hospitals, Leicester, UK.
Waller D; Barts Health NHS Trust, The Royal London Hospital, London, UK.
Sheaff MT; Barts Health NHS Trust, The Royal London Hospital, London, UK.
Richards C; Department of Pathology, Leicester Royal Infirmary, Infirmary Square, Leicester, Leicestershire, UK.
Wells-Jordan P; Department of Pathology, Leicester Royal Infirmary, Infirmary Square, Leicester, Leicestershire, UK.
Gaba A; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Poile C; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Baitei EY; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Bzura A; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Dzialo J; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Jama M; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Le Quesne J; Institute of Cancer Sciences, University of Glasgow, Garscube Estate, Bearsden, UK.
Bajaj A; Department of Radiology, Glenfield Hospital, Leicester, UK.
Martison L; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Shaw JA; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Pritchard C; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Kamata T; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Kuse N; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Brannan L; Department of Health Sciences, University of Leicester, Leicester, UK.
De Philip Zhang P; Department of Informatics, University of Leicester, Leicester, UK.
Yang H; Department of Informatics, University of Leicester, Leicester, UK.
Griffiths G; Southampton Clinical Trials Unit, University of Southampton, Southampton, UK.
Wilson G; The Francis Crick Institute, London, UK.
Swanton C; The Francis Crick Institute, London, UK.
Dudbridge F; Department of Health Sciences, University of Leicester, Leicester, UK.
Hollox EJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Fennell DA; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK. .
Pokaż więcej
Źródło :
Nature communications [Nat Commun] 2021 Mar 19; Vol. 12 (1), pp. 1751. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Mutation*
Lung Neoplasms/*genetics
Mesothelioma/*genetics
Pleural Neoplasms/*genetics
Tumor Suppressor Proteins/*genetics
Clone Cells/metabolism ; Clone Cells/pathology ; Cluster Analysis ; Cohort Studies ; Humans ; Kaplan-Meier Estimate ; Prognosis ; Tumor Microenvironment/genetics ; Tumor Suppressor Proteins/classification ; Whole Exome Sequencing/methods
Czasopismo naukowe
Tytuł :
[Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions].
Autorzy :
Zhang Y; Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. .
Liu Y
Yan L
Zhuang D
Li H
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Mar 10; Vol. 38 (3), pp. 224-227.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders*
Polyhydramnios*/diagnosis
Polyhydramnios*/genetics
Prenatal Diagnosis*
Chromosomes, Human, Pair 17 ; Female ; Fetus ; Genetic Counseling ; Genetic Testing ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
Impact of somatic mutations on response to lenalidomide in lower-risk non-del(5q) myelodysplastic syndromes patients.
Autorzy :
Santini V; MDS UNIT, Hematology, Azienda Ospedaliero Universitaria Careggi, University of Florence, Florence, Italy. .
Fenaux P; Service d'Hématologie Séniors, Hôpital Saint-Louis, Université Paris 7, Paris, France.
Giagounidis A; Department of Oncology, Hematology, and Palliative Care, Marien Hospital Düsseldorf, Düsseldorf, Germany.
Platzbecker U; Medical Clinic and Policlinic I, Hematology and Cellular Therapy, Leipzig University Hospital, Leipzig, Germany.
List AF; Formerly Department of Malignant Hematology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Haferlach T; MLL Munich Leukemia Laboratory, Munich, Germany.
Zhong J; Bristol Myers Squibb, Princeton, NJ, USA.
Wu C; Bristol Myers Squibb, Princeton, NJ, USA.
Mavrommatis K; Bristol Myers Squibb, Princeton, NJ, USA.
Beach CL; Bristol Myers Squibb, Princeton, NJ, USA.
MacBeth KJ; Bristol Myers Squibb, Princeton, NJ, USA.
Almeida A; Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
Pokaż więcej
Źródło :
Leukemia [Leukemia] 2021 Mar; Vol. 35 (3), pp. 897-900. Date of Electronic Publication: 2020 Jul 13.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Mutation*
Biomarkers, Tumor/*genetics
Chromosomes, Human, Pair 5/*genetics
Lenalidomide/*therapeutic use
Myelodysplastic Syndromes/*drug therapy
Humans ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; Prognosis ; Survival Rate
Raport
Tytuł :
[Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
Autorzy :
Duan F; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Kong X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jan 10; Vol. 38 (1), pp. 71-73.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 17*/genetics
Classical Lissencephalies and Subcortical Band Heterotopias*/genetics
1-Alkyl-2-acetylglycerophosphocholine Esterase/genetics ; Female ; Fetus ; Genetic Testing ; Humans ; Microtubule-Associated Proteins/genetics ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review.
Autorzy :
Zhang H; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Yue F; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Zhang X; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
He J; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Jiang Y; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Liu R; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Yu Y; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Pokaż więcej
Źródło :
Medicine [Medicine (Baltimore)] 2021 Jan 08; Vol. 100 (1), pp. e24227.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Chromosome Deletion*
Ultrasonography, Prenatal*
Heart Septal Defects, Ventricular/*diagnostic imaging
Abnormalities, Multiple ; Adult ; Female ; Genetic Counseling ; Heart Septal Defects, Ventricular/genetics ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Trimester, Second ; Young Adult
Czasopismo naukowe
Tytuł :
Outcomes of multiple myeloma patients with del 17p undergoing autologous stem cell transplantation.
Autorzy :
Vaxman I; Division of Hematology, Mayo Clinic, Rochester, Minnesota.; Davidoff Cancer Center, Rabin Medical Center Petah-Tikva, Institute of Hematology, Petah-Tikva, Israel.; Sackler Faculty of Medicine Tel-Aviv University, Tel-Aviv, Israel.
Visram A; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Kapoor P; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Kumar S; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Dispenzieri A; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Buadi F; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Dingli D; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Muchtar E; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Gonsalves W; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Rajkumar V; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Kourelis T; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Warsame R; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Lacy M; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Gertz MA; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Pokaż więcej
Źródło :
American journal of hematology [Am J Hematol] 2021 Jan; Vol. 96 (1), pp. E35-E38. Date of Electronic Publication: 2020 Nov 02.
Typ publikacji :
Clinical Trial; Letter
MeSH Terms :
Chromosome Deletion*
Hematopoietic Stem Cell Transplantation*
Multiple Myeloma*/genetics
Multiple Myeloma*/mortality
Multiple Myeloma*/therapy
Smith-Magenis Syndrome*
Adult ; Aged ; Autografts ; Chromosomes, Human, Pair 17 ; Disease-Free Survival ; Female ; Humans ; Male ; Middle Aged ; Survival Rate
SCR Disease Name :
Chromosome 17 deletion
Raport
Tytuł :
50 Years Ago in TheJournalofPediatrics: An Update on the Phenotypic Map of 18q Deletions.
Autorzy :
Giampietro PF; Division of Medical Genetics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey.
Pokaż więcej
Źródło :
The Journal of pediatrics [J Pediatr] 2021 Jan; Vol. 228, pp. 227.
Typ publikacji :
Historical Article; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders/*history
Chromosomes, Human, Pair 18/*genetics
Pediatrics/*history
Periodicals as Topic/*history
Child ; Chromosome Disorders/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype
Czasopismo naukowe
Tytuł :
Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia.
Autorzy :
Lynn MM; Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
Simon D; Pediatric Pulmonology, Emory University School of Medicine, Atlanta, Georgia, USA.
Kasi AS; Pediatric Pulmonology, Emory University School of Medicine, Atlanta, Georgia, USA .
Pokaż więcej
Źródło :
BMJ case reports [BMJ Case Rep] 2020 Dec 22; Vol. 13 (12). Date of Electronic Publication: 2020 Dec 22.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Athetosis/*diagnosis
Chorea/*diagnosis
Chromosomes, Human, Pair 14/*genetics
Congenital Hypothyroidism/*diagnosis
Hypoxia/*genetics
Muscle Hypotonia/*genetics
Respiratory Distress Syndrome, Newborn/*diagnosis
Amoxicillin-Potassium Clavulanate Combination/administration & dosage ; Athetosis/complications ; Athetosis/genetics ; Athetosis/therapy ; Chorea/complications ; Chorea/genetics ; Chorea/therapy ; Congenital Hypothyroidism/complications ; Congenital Hypothyroidism/genetics ; Congenital Hypothyroidism/therapy ; Enteral Nutrition ; Fluid Therapy ; Genetic Testing ; Humans ; Hypoxia/diagnosis ; Hypoxia/therapy ; Infant ; Intubation, Gastrointestinal ; Lung/diagnostic imaging ; Male ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/therapy ; Oxygen/administration & dosage ; Respiratory Distress Syndrome, Newborn/complications ; Respiratory Distress Syndrome, Newborn/genetics ; Respiratory Distress Syndrome, Newborn/therapy ; Thyroid Nuclear Factor 1/genetics ; Tomography, X-Ray Computed
SCR Disease Name :
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Czasopismo naukowe
Tytuł :
Chromosome 20 loss is characteristic of breast implant-associated anaplastic large cell lymphoma.
Autorzy :
Los-de Vries GT; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
de Boer M; Plastic, Reconstructive, and Hand Surgery, Maastricht University Medical Centre, Maastricht, The Netherlands.
van Dijk E; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Stathi P; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Hijmering NJ; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Roemer MGM; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Mendeville M; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Miedema DM; LEXOR, Center for Experimental and Molecular Medicine, Cancer Center Amsterdam and Amsterdam Gastroenterology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
de Boer JP; Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Rakhorst HA; Department of Plastic, Reconstructive, and Hand Surgery, Medisch Spectrum Twente, Enschede, The Netherlands; and.
van Leeuwen FE; Department of Epidemiology and Biostatistics, Netherlands Cancer Institute, Amsterdam, The Netherlands.
van der Hulst RRWJ; Plastic, Reconstructive, and Hand Surgery, Maastricht University Medical Centre, Maastricht, The Netherlands.
Ylstra B; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
de Jong D; Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Pokaż więcej
Źródło :
Blood [Blood] 2020 Dec 17; Vol. 136 (25), pp. 2927-2932.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Breast Neoplasms*/etiology
Breast Neoplasms*/genetics
Breast Neoplasms*/metabolism
Breast Neoplasms*/pathology
Chromosome Deletion*
Chromosomes, Human, Pair 20*/genetics
Chromosomes, Human, Pair 20*/metabolism
Lymphoma, Large-Cell, Anaplastic*/etiology
Lymphoma, Large-Cell, Anaplastic*/genetics
Lymphoma, Large-Cell, Anaplastic*/metabolism
Lymphoma, Large-Cell, Anaplastic*/pathology
Mutation*
Neoplasm Proteins*/genetics
Neoplasm Proteins*/metabolism
Breast Implants/*adverse effects
Female ; Humans ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Monosomy-3 Alters the Expression Profile of the Glucose Transporters GLUT1-3 in Uveal Melanoma.
Autorzy :
Maaßen T; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Vardanyan S; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Brosig A; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Merz H; Reference Center for Lymph Node Pathology and Haematopathology, 23562 Lübeck, Germany.
Ranjbar M; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Kakkassery V; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Grisanti S; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Tura A; Department of Ophthalmology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Dec 08; Vol. 21 (24). Date of Electronic Publication: 2020 Dec 08.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 3/*genetics
Glucose Transport Proteins, Facilitative/*genetics
Melanoma/*genetics
Uveal Neoplasms/*genetics
Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Cells, Cultured ; Female ; Glucose Transport Proteins, Facilitative/metabolism ; Humans ; Male ; Melanoma/metabolism ; Melanoma/pathology ; Middle Aged ; Neoplasm Metastasis ; Neoplastic Cells, Circulating/metabolism ; Uveal Neoplasms/metabolism ; Uveal Neoplasms/pathology
SCR Disease Name :
Uveal melanoma
Czasopismo naukowe
Tytuł :
Treatment of relapsed chronic lymphocytic leukemia after venetoclax.
Autorzy :
Thompson MC; Leukemia Service, Memorial Sloan Kettering Cancer Center, New York, NY.
Mato AR; Leukemia Service, Memorial Sloan Kettering Cancer Center, New York, NY.
Pokaż więcej
Źródło :
Hematology. American Society of Hematology. Education Program [Hematology Am Soc Hematol Educ Program] 2020 Dec 04; Vol. 2020 (1), pp. 18-23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Leukemia, Lymphocytic, Chronic, B-Cell*/drug therapy
Leukemia, Lymphocytic, Chronic, B-Cell*/genetics
Leukemia, Lymphocytic, Chronic, B-Cell*/metabolism
Smith-Magenis Syndrome*/drug therapy
Smith-Magenis Syndrome*/genetics
Smith-Magenis Syndrome*/metabolism
Smith-Magenis Syndrome*/pathology
Bridged Bicyclo Compounds, Heterocyclic/*administration & dosage
Chromosomes, Human, Pair 13/*genetics
Rituximab/*administration & dosage
Sulfonamides/*administration & dosage
Tumor Suppressor Protein p53/*genetics
Aged ; Chromosomes, Human, Pair 17/genetics ; Chromosomes, Human, Pair 17/metabolism ; Humans ; Male ; Recurrence
SCR Disease Name :
Chromosome 17 deletion
Czasopismo naukowe
Tytuł :
Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort.
Autorzy :
Kanamori T; Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Japan.; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Japan.
Sanada M; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Japan.
Ri M; Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Japan.
Ueno H; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
Nishijima D; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Japan.
Yasuda T; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Japan.
Tachita T; Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Japan.
Narita T; Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Japan.
Kusumoto S; Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Japan.
Inagaki A; Department of Hematology and Oncology, Nagoya City West Medical Center, Japan.
Ishihara R; Department of Laboratory Science, Gunma University Graduate School of Health Science, Japan.
Murakami Y; Department of Laboratory Science, Gunma University Graduate School of Health Science, Japan.
Kobayashi N; Department of Hematology, Gunma University Graduate School of Medicine, Japan.
Shiozawa Y; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
Yoshida K; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
Nakagawa MM; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
Nannya Y; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
Shiraishi Y; Division of Cellular Signaling, National Cancer Center Research Institute, Japan.
Chiba K; Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
Tanaka H; Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
Miyano S; Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
Horibe K; Clinical Research Center, National Hospital Organization Nagoya Medical Center, Japan.
Handa H; Department of Laboratory Science, Gunma University Graduate School of Health Science, Japan.
Ogawa S; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan.; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Japan.
Iida S; Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Japan.
Pokaż więcej
Źródło :
British journal of haematology [Br J Haematol] 2020 Dec; Vol. 191 (5), pp. 755-763. Date of Electronic Publication: 2020 May 09.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 14/*genetics
Multiple Myeloma/*genetics
Neoplasm Proteins/*genetics
Smith-Magenis Syndrome/*genetics
Adult ; Chromosomes, Human, Pair 17/genetics ; Female ; Humans ; Japan ; Male ; Middle Aged
SCR Disease Name :
Chromosome 17 deletion
Czasopismo naukowe
Tytuł :
Infantile presentation of 3q26.33-3q27.2 deletion syndrome.
Autorzy :
Robilliard R; Pediatrics, Baystate Medical Center Children's Hospital, Springfield, Massachusetts, USA .
Caylan M; Pediatrics, Baystate Medical Center Children's Hospital, Springfield, Massachusetts, USA.
Pokaż więcej
Źródło :
BMJ case reports [BMJ Case Rep] 2020 Nov 30; Vol. 13 (11). Date of Electronic Publication: 2020 Nov 30.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Fetal Growth Retardation/*genetics
Bradycardia/genetics ; Chromosomes, Human, Pair 3 ; Cornea/abnormalities ; Humans ; Infant, Newborn ; Male ; Respiratory Insufficiency/genetics ; Syndrome
SCR Disease Name :
Chromosome 3, monosomy 3q27
Czasopismo naukowe
Tytuł :
[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
Autorzy :
Zhuang J; Prenatal Diagnosis Center, Quanzhou Woman's and Children's Hospital, Quanzhou, Fujian, 362000 China. .
Wang Y
Zeng S
Wang J
Jiang Y
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Nov 10; Vol. 37 (11), pp. 1283-1286.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Developmental Disabilities*/genetics
Child ; Chromosome Banding ; Chromosomes, Human, Pair 16 ; Female ; Fetus ; Humans ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.
Autorzy :
Nozawa A; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
Ozeki M; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan. .
Yasue S; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
Endo S; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
Kadowaki T; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, 502-8558, Japan.
Ohnishi H; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8650, Japan.
Hama A; Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Nakamura-ku, Nagoya, 453-8511, Japan.
Takahashi Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8650, Japan.
Kojima S; Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8650, Japan.
Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
Pokaż więcej
Źródło :
International journal of hematology [Int J Hematol] 2020 Nov; Vol. 112 (5), pp. 728-733. Date of Electronic Publication: 2020 Jun 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Ring Chromosomes*
Azacitidine/*administration & dosage
Chromosomes, Human, Pair 5/*genetics
Cri-du-Chat Syndrome/*genetics
Myelodysplastic Syndromes/*drug therapy
Myelodysplastic Syndromes/*etiology
Myelodysplastic Syndromes/*genetics
Adolescent ; Age Factors ; Cri-du-Chat Syndrome/etiology ; Cytogenetic Analysis/methods ; Female ; Humans ; Myelodysplastic Syndromes/blood ; Quality of Life ; Treatment Outcome
Czasopismo naukowe
Tytuł :
HIF1α is not a target of 14q deletion in clear cell renal cancer.
Autorzy :
Shenoy N; Department of Medicine (Oncology), Albert Einstein College of Medicine, Montefiore Medical Center, New York, 10461, USA. .; Experimental Therapeutics Program, Albert Einstein Cancer Center, Albert Einstein College of Medicine, New York, 10461, USA. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2020 Oct 19; Vol. 10 (1), pp. 17642. Date of Electronic Publication: 2020 Oct 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 14*
Genes, Tumor Suppressor*
Carcinoma, Renal Cell/*genetics
Hypoxia-Inducible Factor 1, alpha Subunit/*genetics
Kidney Neoplasms/*genetics
Carcinoma, Renal Cell/mortality ; Carcinoma, Renal Cell/pathology ; Computational Biology ; Databases, Genetic ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Kidney Neoplasms/mortality ; Kidney Neoplasms/pathology ; Male ; Prognosis ; Registries ; Survival Rate
Czasopismo naukowe
Tytuł :
[Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion].
Autorzy :
Dai P; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Zhu C
Zhao G
Dong X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1167-1171.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
DNA Copy Number Variations*
Chromosomes, Human, Pair 16 ; Humans ; Karyotyping
Czasopismo naukowe
Tytuł :
[Detection of del(17p13) among newly diagnosed multiple myeloma cases using cytoplasmic light chain immunofluorescence combined with FISH and its clinical significance].
Autorzy :
Lu X; Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu 210029, China. .
Chen L
Shi Q
Qiu H
Li J
Guo R
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1087-1091.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Fluorescent Antibody Technique*
Multiple Myeloma*/diagnosis
Multiple Myeloma*/genetics
Chromosomes, Human, Pair 17 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Prognosis
Czasopismo naukowe
Tytuł :
Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication.
Autorzy :
Matsuzaki J; Lurie Family Foundations MEG Imaging Center, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Berman JI; Lurie Family Foundations MEG Imaging Center, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Blaskey L; Lurie Family Foundations MEG Imaging Center, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kuschner ES; Lurie Family Foundations MEG Imaging Center, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Gaetz L; Lurie Family Foundations MEG Imaging Center, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Mukherjee P; Department of Radiology, University of California, San Francisco School of Medicine, San Francisco, California.
Buckner RL; Department of Psychology, Harvard University, Cambridge, Massachusetts.
Nagarajan SS; Department of Radiology, University of California, San Francisco School of Medicine, San Francisco, California.
Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York; Simons Foundation, New York, New York.
Sherr EH; Department of Neurology, University of California, San Francisco School of Medicine, San Francisco, California.
Roberts TPL; Lurie Family Foundations MEG Imaging Center, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Linguistics, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: .
Pokaż więcej
Corporate Authors :
Simons VIP Consortium
Źródło :
Biological psychiatry. Cognitive neuroscience and neuroimaging [Biol Psychiatry Cogn Neurosci Neuroimaging] 2020 Oct; Vol. 5 (10), pp. 942-950. Date of Electronic Publication: 2019 Nov 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Adolescent ; Auditory Perception ; Child ; Chromosomes, Human, Pair 16 ; Cognitive Dysfunction ; Humans ; Intellectual Disability/genetics ; Magnetoencephalography
Czasopismo naukowe
Tytuł :
[A genetic case study of neurofibromatosis type 1-microdeletion syndrome caused by atypical 17q11.2 microdeletion].
Autorzy :
Yang S; Department of Neurology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China. .
Jiao Y
Han X
Chen Y
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Sep 10; Vol. 37 (9), pp. 976-979.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Neurofibromatosis 1*/genetics
Chromosome Banding ; Chromosomes, Human, Pair 17 ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; 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