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Tytuł :
Array-based CGH of primary cutaneous CD8+ aggressive EPIDERMO-tropic cytotoxic T-cell lymphoma.
Autorzy :
Fanoni D; Dipartimento di Fisiopatologia medico-chirurgica e dei trapianti, Universitá degli Studi di Milano, Milan, Italy.
Corti L; Department of Dermatology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
Alberti-Violetti S; Department of Dermatology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Universitá degli Studi di Milano, Milan, Italy.
Tensen CP; Department of Dermatology, Leiden University Medical Centre (LUMC), Leiden, The Netherlands.
Venegoni L; Dipartimento di Fisiopatologia medico-chirurgica e dei trapianti, Universitá degli Studi di Milano, Milan, Italy.
Vermeer M; Department of Dermatology, Leiden University Medical Centre (LUMC), Leiden, The Netherlands.
Willemze R; Department of Dermatology, Leiden University Medical Centre (LUMC), Leiden, The Netherlands.
Berti E; Dipartimento di Fisiopatologia medico-chirurgica e dei trapianti, Universitá degli Studi di Milano, Milan, Italy.; Department of Dermatology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2018 Dec; Vol. 57 (12), pp. 622-629. Date of Electronic Publication: 2018 Oct 11.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Lymphoma, T-Cell, Cutaneous/*genetics
Skin Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; CD8-Positive T-Lymphocytes ; Chromosomes, Human, Pair 9 ; Cohort Studies ; Female ; Gene Dosage ; Genes, Tumor Suppressor ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Lymphoma, T-Cell, Cutaneous/immunology ; Lymphoma, T-Cell, Cutaneous/pathology ; Male ; Middle Aged ; Oncogenes ; Skin Neoplasms/immunology ; Skin Neoplasms/pathology ; T-Lymphocytes, Cytotoxic
Czasopismo naukowe
Tytuł :
Genomic coamplification of CDK4/MDM2/FRS2 is associated with very poor prognosis and atypical clinical features in neuroblastoma patients.
Autorzy :
Amoroso L; UOC Oncologia, IRCCS Istituto Gaslini, Genova, Italy.
Ognibene M; Laboratorio Cellule Staminali e Terapie Cellulari, IRCCS Istituto Gaslini, Genova, Italy.
Morini M; Laboratorio di Biologia Molecolare, IRCCS Istituto Gaslini, Genova, Italy.
Conte M; UOC Oncologia, IRCCS Istituto Gaslini, Genova, Italy.
Di Cataldo A; UOC Emato-oncologia, Policlinico di Catania, Catania, Italy.
Tondo A; UOC Oncologia Pediatrica, Ospedale Meyer, Firenze, Italy.
D'Angelo P; UOC Onco-ematologia Pediatrica, Ospedale dei Bambini, Palermo, Italy.
Castellano A; UOC Oncologia Pediatrica, Ospedale Bambino Gesù, Roma, Italy.
Garaventa A; UOC Oncologia, IRCCS Istituto Gaslini, Genova, Italy.
Lasorsa VA; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Podestà M; Laboratorio Cellule Staminali e Terapie Cellulari, IRCCS Istituto Gaslini, Genova, Italy.
Capasso M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Pezzolo A; Laboratorio Cellule Staminali e Terapie Cellulari, IRCCS Istituto Gaslini, Genova, Italy.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2020 May; Vol. 59 (5), pp. 277-285. Date of Electronic Publication: 2019 Dec 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Adaptor Proteins, Signal Transducing/*genetics
Cyclin-Dependent Kinase 4/*genetics
Membrane Proteins/*genetics
Neuroblastoma/*genetics
Proto-Oncogene Proteins c-mdm2/*genetics
Biomarkers, Tumor/genetics ; Child ; Chromosomes, Human, Pair 12 ; Comparative Genomic Hybridization/methods ; Gene Amplification ; Humans ; Neuroblastoma/mortality ; Neuroblastoma/pathology ; Prognosis ; Retrospective Studies ; Survival Rate ; Whole Exome Sequencing/methods
Czasopismo naukowe
Tytuł :
Discordant and heterogeneous clinically relevant genomic alterations in circulating tumor cells vs plasma DNA from men with metastatic castration resistant prostate cancer.
Autorzy :
Gupta S; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.; Duke Molecular Physiology Institute, Duke University, Durham, North Carolina.
Hovelson DH; Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, Michigan.
Kemeny G; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.
Halabi S; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina.
Foo WC; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.
Anand M; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.
Somarelli JA; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.; Department of Medicine, Surgery, Pharmacology and Cancer Biology, Duke University, Durham, North Carolina.
Tomlins SA; Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, Michigan.
Antonarakis ES; Prostate Cancer Research Program, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Luo J; James Buchanan Brady Urological Institute and the Department of Urology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Dittamore RV; Epic Sciences, La Jolla, California.
George DJ; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.
Rothwell C; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.
Nanus DM; Department of Medicine, Weill Cornell Medicine, New York, New York.
Armstrong AJ; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.; Department of Medicine, Surgery, Pharmacology and Cancer Biology, Duke University, Durham, North Carolina.
Gregory SG; Duke Cancer Institute Center for Prostate and Urologic Cancers, Duke University, Durham, North Carolina.; Duke Molecular Physiology Institute, Duke University, Durham, North Carolina.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2020 Apr; Vol. 59 (4), pp. 225-239. Date of Electronic Publication: 2019 Nov 28.
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 :
Biomarkers, Tumor*
Circulating Tumor DNA*
Genetic Variation*
Neoplastic Cells, Circulating/*metabolism
Prostatic Neoplasms, Castration-Resistant/*diagnosis
Prostatic Neoplasms, Castration-Resistant/*genetics
Comparative Genomic Hybridization ; DNA Copy Number Variations ; Genetic Association Studies ; Genomics/methods ; Humans ; Kaplan-Meier Estimate ; Male ; Neoplasm Metastasis ; Neoplasm Staging ; Neoplastic Cells, Circulating/pathology ; Phenotype ; Prognosis ; Prostatic Neoplasms, Castration-Resistant/blood ; Prostatic Neoplasms, Castration-Resistant/therapy ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature.
Autorzy :
Maguire A; Department of Research, Mayo Clinic Arizona, Scottsdale, AZ.
Chen X; Department of Research Biostatistics, Mayo Clinic Arizona, Scottsdale, AZ.
Wisner L; Department of Research, Mayo Clinic Arizona, Scottsdale, AZ.
Malasi S; Department of Research, Mayo Clinic Arizona, Scottsdale, AZ.
Ramsower C; Department of Research, Mayo Clinic Arizona, Scottsdale, AZ.
Kendrick S; Department of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, AR.
Barrett MT; Department of Research, Mayo Clinic Arizona, Scottsdale, AZ.
Glinsmann-Gibson B; Department of Research, Mayo Clinic Arizona, Scottsdale, AZ.
McGrath M; Department of Laboratory Medicine, Medicine, and Pathology, University of California, San Francisco, CA.
Rimsza LM; Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Phoenix, AZ.
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Źródło :
International journal of cancer [Int J Cancer] 2019 Dec 01; Vol. 145 (11), pp. 3078-3088. Date of Electronic Publication: 2019 Jun 03.
Typ publikacji :
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Repair*
Genomic Instability*
Gene Expression Profiling/*methods
HIV Infections/*genetics
Lymphoma, Large B-Cell, Diffuse/*genetics
Adult ; Aged ; Comparative Genomic Hybridization ; Female ; Gene Expression Regulation, Neoplastic ; Gene Regulatory Networks ; Humans ; Immunohistochemistry ; Lymphoma, Large B-Cell, Diffuse/virology ; Male ; Middle Aged ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Molecular characteristics of poorly differentiated chordoma.
Autorzy :
Shih AR; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
Chebib I; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
Deshpande V; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
Dickson BC; Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.
Iafrate AJ; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
Nielsen GP; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2019 Nov; Vol. 58 (11), pp. 804-808. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji :
Journal Article
MeSH Terms :
Chordoma/*genetics
Chordoma/*metabolism
Chordoma/*pathology
Chromosome Deletion ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Gene Deletion ; Humans ; Multiplex Polymerase Chain Reaction ; Mutation ; Polymorphism, Single Nucleotide/genetics ; Retinoblastoma Binding Proteins/genetics ; SMARCB1 Protein/genetics ; Sequence Analysis, RNA ; Ubiquitin-Protein Ligases/genetics
Czasopismo naukowe
Tytuł :
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.
Autorzy :
de Kock L; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
Hillmer M; Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.
Wagener R; Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.
Soglio DB; Department of Pathology, CHU Sainte Justine, Montréal, Québec, Canada.; Department of Pathology and Cellular Biology, Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada.
Sabbaghian N; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
Siebert R; Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.
Priest JR; Minneapolis, Minnesota.
Miller M; Department of Pediatrics, Geisinger Medical Centre, Danville, Pennsylvania.
Foulkes WD; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.; Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2019 Aug; Vol. 58 (8), pp. 602-604. Date of Electronic Publication: 2019 Jan 28.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Deletion*
DEAD-box RNA Helicases/*genetics
Neoplastic Syndromes, Hereditary/*diagnosis
Neoplastic Syndromes, Hereditary/*genetics
Ribonuclease III/*genetics
Adolescent ; Alleles ; Chromosomes, Human, Pair 14 ; Comparative Genomic Hybridization ; Female ; Germ-Line Mutation ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Pedigree ; Phenotype
Raport
Tytuł :
Single-cell genetic analysis of clonal dynamics in colorectal adenomas indicates CDX2 gain as a predictor of recurrence.
Autorzy :
Fiedler D; Institute of Pathology, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Heselmeyer-Haddad K; Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Hirsch D; Institute of Pathology, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Hernandez LS; Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Torres I; Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Wangsa D; Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Hu Y; Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Zapata L; Centre for Evolution and Cancer, The Institute of Cancer Research, London, United Kingdom.; Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CGR), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Rueschoff J; Institute of Pathology Nordhessen, Kassel, Germany.
Belle S; Department of Internal Medicine II, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Central Interdisciplinary Endoscopy Unit, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Ried T; Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Gaiser T; Institute of Pathology, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
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Źródło :
International journal of cancer [Int J Cancer] 2019 Apr 01; Vol. 144 (7), pp. 1561-1573. Date of Electronic Publication: 2018 Dec 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Adenoma/*genetics
CDX2 Transcription Factor/*genetics
Colorectal Neoplasms/*genetics
Neoplasm Recurrence, Local/*genetics
Single-Cell Analysis/*methods
Aged ; Biomarkers, Tumor/genetics ; Chromosome Aberrations ; Clonal Evolution ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Over-expression of TNNI3K is associated with early-stage carcinogenesis of cholangiocarcinoma.
Autorzy :
Yeh CN; Department of Surgery, Liver Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Chen MH; Division of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
Chang YC; Genomics Research Center, Academia Sinica, Taipei, Taiwan.
Wu RC; Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Tsao LC; Department of Chemical Engineering and Biotechnology and Graduate Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan.
Wang SY; Department of Surgery, Liver Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Cheng CT; Department of Surgery, Liver Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.; Institute of Biomedical Informatics, National Yang-Ming University, Taipei, Taiwan.
Chiang KC; Department of Surgery, Chang Gung Memorial Hospital, Kee-lung, Taiwan.
Chen TW; Department of Surgery, Liver Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Hsiao M; Genomics Research Center, Academia Sinica, Taipei, Taiwan.
Weng WH; Department of Chemical Engineering and Biotechnology and Graduate Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan.
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Źródło :
Molecular carcinogenesis [Mol Carcinog] 2019 Feb; Vol. 58 (2), pp. 270-278. Date of Electronic Publication: 2018 Nov 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Up-Regulation*
Bile Duct Neoplasms/*genetics
Cholangiocarcinoma/*genetics
MAP Kinase Kinase Kinases/*genetics
MAP Kinase Kinase Kinases/*metabolism
Thioacetamide/*adverse effects
Adult ; Aged ; Aged, 80 and over ; Animals ; Bile Duct Neoplasms/chemically induced ; Bile Duct Neoplasms/metabolism ; Cell Line, Tumor ; Cell Proliferation ; Cell Survival ; Cholangiocarcinoma/chemically induced ; Cholangiocarcinoma/metabolism ; Comparative Genomic Hybridization ; Female ; Gene Expression Regulation, Neoplastic ; Gene Knockdown Techniques ; Humans ; Male ; Middle Aged ; Prognosis ; Rats ; Signal Transduction ; Young Adult
Czasopismo naukowe
Tytuł :
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Autorzy :
Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Xumerle L; Department of Biotechnology, University of Verona, Verona, Italy.
Leonardelli L; Department of Biotechnology, University of Verona, Verona, Italy.
Delledonne M; Department of Biotechnology, University of Verona, Verona, Italy.
Brusco A; Department of Medical Sciences, University of Turin, Torino, Italy.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Schinzel A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Larizza D; Pediatrics and Adolescentology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Guerneri S; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Natacci F; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Reho P; Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Firenze, Italy.
Manolakos E; Laboratory of Genetics, Access to genome P.C., Thessaloniki, Greece.
Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Soli F; Department of Genetics, Santa Chiara Hospital, Trento, Italy.
Provenzano A; Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Firenze, Italy.; Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy.
Al-Rikabi AH; Institute of Human Genetics, Jena University Hospital, Jena, Germany.
Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Nazaryan-Petersen L; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Giglio S; Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Firenze, Italy.; Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy.
Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Liehr T; Institute of Human Genetics, Jena University Hospital, Jena, Germany.
Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
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Źródło :
Human mutation [Hum Mutat] 2019 Feb; Vol. 40 (2), pp. 193-200. Date of Electronic Publication: 2018 Nov 22.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Chromosomes/*genetics
Maternal Inheritance/*genetics
Trisomy/*genetics
Alleles ; Chromothripsis ; Comparative Genomic Hybridization ; Female ; Haplotypes/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Maternal Age ; Mosaicism ; Phenotype ; Prenatal Diagnosis ; Trisomy/pathology
Czasopismo naukowe
Tytuł :
Nuclear factor I X is a recurrent target for HPV16 insertions in anal carcinomas.
Autorzy :
Jeannot E; Department of Theranostic and Diagnostic Medicine, Institut Curie, PSL Research University, Paris, Saint-Cloud, France.
Harlé A; Université de Lorraine, Nancy, France.; CNRS UMR 7039 CRAN, Vandoeuvre-Lès-Nancy, France.; Institut de Cancérologie de Lorraine, Service de Biopathologie, Vandoeuvre-Lès-Nancy, France.
Holmes A; Centre National de la Recherche Scientifique UMR3244, Sorbonne Universités, Institut Curie, PSL Research University, Paris, France.
Sastre-Garau X; Institut de Cancérologie de Lorraine, Service de Biopathologie, Vandoeuvre-Lès-Nancy, France.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2018 Dec; Vol. 57 (12), pp. 638-644. Date of Electronic Publication: 2018 Sep 27.
Typ publikacji :
Journal Article
MeSH Terms :
Virus Integration*
Anus Neoplasms/*genetics
Anus Neoplasms/*virology
DNA, Viral/*analysis
Human papillomavirus 16/*genetics
NFI Transcription Factors/*genetics
Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Chromosomes, Human, Pair 19 ; Comparative Genomic Hybridization ; DNA, Neoplasm/chemistry ; Female ; Humans ; Male ; Middle Aged ; Real-Time Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
EXOSC4 functions as a potential oncogene in development and progression of colorectal cancer.
Autorzy :
Pan Y; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.; Department of Pathology, Chinese Academy of Medical Sciences and Peking Union Medical College, National Cancer Center/Cancer Hospital, Beijing, China.
Tong JHM; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.
Kang W; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.
Lung RWM; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.
Chak WP; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.
Chung LY; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.
Wu F; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.
Li H; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.
Yu J; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong SAR, China.
Chan AWH; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.
To KF; Department of Anatomical and Cellular Pathology, State Key Laboratory in Oncology in South China, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Sir Y.K. Pao Cancer Center, Hong Kong SAR, China.; Institute of Digestive Disease, Partner State Key Laboratory of Digestive Disease, The Chinese University of Hong Kong, Hong Kong SAR, China.
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Źródło :
Molecular carcinogenesis [Mol Carcinog] 2018 Dec; Vol. 57 (12), pp. 1780-1791. Date of Electronic Publication: 2018 Sep 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Copy Number Variations*
Up-Regulation*
Colorectal Neoplasms/*pathology
Exosome Multienzyme Ribonuclease Complex/*genetics
Exosome Multienzyme Ribonuclease Complex/*metabolism
RNA-Binding Proteins/*genetics
RNA-Binding Proteins/*metabolism
Animals ; Caco-2 Cells ; Cell Line, Tumor ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/metabolism ; Comparative Genomic Hybridization ; Disease Progression ; Female ; Gene Expression Regulation, Neoplastic ; HCT116 Cells ; HT29 Cells ; Humans ; Male ; Mice ; Neoplasm Transplantation ; Signal Transduction
Czasopismo naukowe
Tytuł :
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Autorzy :
Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Vaz R; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Eisfeldt J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Hofmeister W; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Horemuzova E; Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden.
Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.
Nishimura G; Intractable Disease Center, Saitama University Hospital, Saitama, Japan.
Klintberg B; Department of Pediatrics, Visby Hospital, Visby, Sweden.
Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Nilsson D; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
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Źródło :
Human mutation [Hum Mutat] 2018 Oct; Vol. 39 (10), pp. 1456-1467. Date of Electronic Publication: 2018 Aug 22.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alu Elements*
Gene Duplication*
Genetic Association Studies*
Muscle Proteins/*genetics
Osteochondrodysplasias/*diagnosis
Osteochondrodysplasias/*genetics
Adolescent ; Animals ; Child ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Ellis-Van Creveld Syndrome/diagnosis ; Ellis-Van Creveld Syndrome/genetics ; Female ; Homozygote ; Humans ; Male ; Matrilin Proteins/genetics ; Pedigree ; Phenotype ; Radiography ; Whole Genome Sequencing ; Zebrafish
SCR Disease Name :
Jeune syndrome
Czasopismo naukowe
Tytuł :
A genomic copy number signature predicts radiation exposure in post-Chernobyl breast cancer.
Autorzy :
Wilke CM; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Braselmann H; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Clinical Cooperation Group 'Personalized Radiotherapy of Head and Neck Cancer', Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, 85764, Germany.
Hess J; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Clinical Cooperation Group 'Personalized Radiotherapy of Head and Neck Cancer', Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, 85764, Germany.
Klymenko SV; National Research Center for Radiation Medicine of National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine.
Chumak VV; National Research Center for Radiation Medicine of National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine.
Zakhartseva LM; Bogomolets National Medical University, Kyiv, Ukraine.
Bakhanova EV; National Research Center for Radiation Medicine of National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine.
Walch AK; Research Unit Analytical Pathology, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Selmansberger M; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Samaga D; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Weber P; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Schneider L; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Clinical Cooperation Group 'Personalized Radiotherapy of Head and Neck Cancer', Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, 85764, Germany.
Fend F; Institute of Pathology and Neuropathology, Tübingen, Germany.
Bösmüller HC; Institute of Pathology and Neuropathology, Tübingen, Germany.
Zitzelsberger H; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Clinical Cooperation Group 'Personalized Radiotherapy of Head and Neck Cancer', Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, 85764, Germany.; Department of Radiation Oncology, University Hospital, LMU Munich, München, Germany.
Unger K; Research Unit Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.; Clinical Cooperation Group 'Personalized Radiotherapy of Head and Neck Cancer', Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, 85764, Germany.
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Źródło :
International journal of cancer [Int J Cancer] 2018 Sep 15; Vol. 143 (6), pp. 1505-1515. Date of Electronic Publication: 2018 May 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chernobyl Nuclear Accident*
DNA Copy Number Variations*
Breast Neoplasms/*genetics
Neoplasms, Radiation-Induced/*genetics
Radiation Exposure/*adverse effects
Adult ; Breast Neoplasms/epidemiology ; Breast Neoplasms/pathology ; Cohort Studies ; Comparative Genomic Hybridization ; Female ; Follow-Up Studies ; Gene Dosage ; Genomics ; Humans ; Middle Aged ; Neoplasm Invasiveness ; Neoplasms, Radiation-Induced/epidemiology ; Neoplasms, Radiation-Induced/pathology ; Prognosis ; ROC Curve ; Ukraine/epidemiology
Czasopismo naukowe
Tytuł :
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Autorzy :
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Tcw J; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York.
Brennand KJ; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
Sebat J; Beyster Center for Psychiatric Genomics, Department of Psychiatry, University of California at San Diego, San Diego, California.
Malhotra D; Hoffmann-La Roche Ltd, Basel, Switzerland.
McCarthy S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
Rudolph U; Laboratory of Genetic Neuropharmacology, McLean Hospital, Belmont, Massachusetts.; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Chong Z; Department of Genetics and the Informatics Institute, The University of Alabama at Birmingham, Birmingham, Alabama.
Levy DL; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.; Psychology Research Laboratory, McLean Hospital, Belmont, Massachusetts.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
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Źródło :
Human mutation [Hum Mutat] 2018 Jul; Vol. 39 (7), pp. 939-946. Date of Electronic Publication: 2018 May 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Markers*
Bipolar Disorder/*genetics
Chromosome Disorders/*genetics
Psychotic Disorders/*genetics
Bipolar Disorder/physiopathology ; Chromosome Aberrations ; Chromosome Disorders/physiopathology ; Chromosome Duplication/genetics ; Chromosomes, Human, Pair 9/genetics ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pedigree ; Phenotype ; Psychotic Disorders/physiopathology ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Autorzy :
Stellacci E; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Mercurio L; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Anselmi M; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ''Tor Vergata,'' Rome, Italy.
Cecchetti S; Servizio grandi strumentazioni e core facilities, Istituto Superiore di Sanità, Rome, Italy.
Gogoll L; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Hackenberg A; Division of Paediatric Neurology, University Children's Hospital Zurich, Zürich, Switzerland.
Bocchinfuso G; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ''Tor Vergata,'' Rome, Italy.
Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ''Tor Vergata,'' Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
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Źródło :
Human mutation [Hum Mutat] 2018 Jul; Vol. 39 (7), pp. 959-964. Date of Electronic Publication: 2018 May 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Abnormalities, Multiple/*genetics
Calcinosis/*genetics
Ear Diseases/*genetics
Intellectual Disability/*genetics
Muscular Atrophy/*genetics
Nerve Tissue Proteins/*genetics
Transcription Factors/*genetics
Abnormalities, Multiple/physiopathology ; Calcinosis/physiopathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 3/genetics ; Comparative Genomic Hybridization ; Ear Diseases/physiopathology ; Female ; Humans ; Intellectual Disability/physiopathology ; Male ; Muscular Atrophy/physiopathology ; Mutation, Missense/genetics ; Zinc Fingers/genetics
SCR Disease Name :
Chromosome 3, monosomy 3q13; Primrose syndrome
Czasopismo naukowe
Tytuł :
Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples.
Autorzy :
Lasolle H; Department of endocrinology, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France.; Univ Lyon, Université Lyon 1, Lyon, France.; Department of biostatistics, Hospices Civils de Lyon, Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Évolutive, Équipe Biostatistique-Santé, Villeurbanne, France.
Alix E; Department of cytogenetics, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
Bonnefille C; Department of cytogenetics, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
Elsensohn MH; Univ Lyon, Université Lyon 1, Lyon, France.; Department of biostatistics, Hospices Civils de Lyon, Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Évolutive, Équipe Biostatistique-Santé, Villeurbanne, France.
Michel J; Department of cytogenetics, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
Sanlaville D; Univ Lyon, Université Lyon 1, Lyon, France.; Department of cytogenetics, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
Roy P; Univ Lyon, Université Lyon 1, Lyon, France.; Department of biostatistics, Hospices Civils de Lyon, Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Évolutive, Équipe Biostatistique-Santé, Villeurbanne, France.
Raverot G; Department of endocrinology, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France.; Univ Lyon, Université Lyon 1, Lyon, France.; INSERM U1052, CNRS UMR5286, Cancer Research Center of Lyon, Lyon, F-69372, France.
Bardel C; Univ Lyon, Université Lyon 1, Lyon, France.; Department of biostatistics, Hospices Civils de Lyon, Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Évolutive, Équipe Biostatistique-Santé, Villeurbanne, France.; Sequencing platfom haut débit, Hospices Civils de Lyon, Bron, France.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2018 Jun; Vol. 57 (6), pp. 320-328. Date of Electronic Publication: 2018 Mar 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization/*methods
Pituitary Neoplasms/*genetics
Adult ; Aged ; Child, Preschool ; Chromosomes, Human ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Young Adult
Czasopismo naukowe
Tytuł :
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Autorzy :
Mayer AK; Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.
Van Cauwenbergh C; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Rother C; Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.
Baumann B; Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.
Reuter P; Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.
De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Wissinger B; Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.
Kohl S; Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.
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Corporate Authors :
ACHM Study Group
Źródło :
Human mutation [Hum Mutat] 2017 Nov; Vol. 38 (11), pp. 1579-1591. Date of Electronic Publication: 2017 Aug 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Copy Number Variations*
Mutation*
Color Vision Defects/*diagnosis
Color Vision Defects/*genetics
Cyclic Nucleotide-Gated Cation Channels/*genetics
Alleles ; Chromosome Mapping ; Chromosome Segregation ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Exons ; Founder Effect ; Genotype ; Humans ; Mutation Rate
Czasopismo naukowe
Tytuł :
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
Autorzy :
Poirier K; Inserm, Paris, France.; Institut Cochin, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Hubert L; Laboratoire de Génétique Translationnelle, Inserm, Paris, France.
Viot G; Gynécologie Obstétrique, HUPC, Hôpital Cochin, HUPC, Assistance Publique - Hôpitaux de Paris, Paris, France.
Rio M; Génétique Médicale, Hôpital Necker-Enfants Malades, - Hôpitaux de Paris, Paris, France.
Billuart P; Inserm, Paris, France.; Institut Cochin, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Besmond C; Laboratoire de Génétique Translationnelle, Inserm, Paris, France.
Bienvenu T; Inserm, Paris, France.; Institut Cochin, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, Assistance Publique - Hôpitaux de Paris, Paris, France.
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Źródło :
Human mutation [Hum Mutat] 2017 Aug; Vol. 38 (8), pp. 932-941. Date of Electronic Publication: 2017 Jun 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Casein Kinase II/*genetics
Developmental Disabilities/*genetics
Epilepsies, Myoclonic/*genetics
Intellectual Disability/*genetics
Casein Kinase II/metabolism ; Child, Preschool ; Comparative Genomic Hybridization ; Exome/genetics ; Female ; Humans ; Infant ; Male ; Mutation/genetics ; Neurodevelopmental Disorders/genetics ; Whole Exome Sequencing/methods
Czasopismo naukowe
Tytuł :
Genome-wide arrays in routine diagnostics of hematological malignancies.
Autorzy :
Simons A; Laboratory of Tumor Genetics, Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Sikkema-Raddatz B
de Leeuw N
Konrad NC
Hastings RJ
Schoumans J
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Źródło :
Human mutation [Hum Mutat] 2012 Jun; Vol. 33 (6), pp. 941-8. Date of Electronic Publication: 2012 Apr 09.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Comparative Genomic Hybridization*/methods
Hematologic Neoplasms/*diagnosis
DNA Copy Number Variations ; Hematologic Neoplasms/genetics ; Humans ; Polymorphism, Single Nucleotide ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
A new whole genome amplification method for studying clonal evolution patterns in malignant colorectal polyps.
Autorzy :
Hirsch D; Section of Cancer Genomics, Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Camps J
Varma S
Kemmerling R
Stapleton M
Ried T
Gaiser T
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2012 May; Vol. 51 (5), pp. 490-500. Date of Electronic Publication: 2012 Feb 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms :
Comparative Genomic Hybridization*
Clonal Evolution/*genetics
Colonic Polyps/*genetics
Colorectal Neoplasms/*genetics
Adenoma/genetics ; Carcinoma/genetics ; Chromosome Aberrations ; Chromosomes, Human, Pair 20 ; DNA Copy Number Variations ; DNA, Neoplasm ; Humans
Czasopismo naukowe

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