المؤلفون: Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Català-Temprano A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S, European Working Group of MDS in Children (EWOG-MDS), Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW

المصدر: NATURE MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::805cfb959fb8591155bb0950ac78d67f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20180

المؤلفون: Wang YM; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Kaj-Carbaidwala B; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Lurie Children's Hospital, Chicago, Illinois, USA., Lane A; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Agarwal S; Department of Pediatrics, Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA., Beier F; Department of Hematology and Oncology, University Klinik Aachen, Aachen, Germany., Bertuch A; Department of Pediatric Hematology-Oncology, Texas Children's Hospital, Houston, Texas, USA., Borovsky KA; Department of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Brennan SK; Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University in St. Louis, St. Louis, Missouri, USA., Calado RT; Department of Hematology and Oncology, University of Sao Paulo, Sao Paulo, Brazil., Catto LFB; Department of Hematology and Oncology, University of Sao Paulo, Sao Paulo, Brazil., Dufour C; Hematology Unit. IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ebens CL; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, University of Minnesota, Minneapolis, MN, USA., Fioredda F; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy., Giri N; Department of Pediatrics, Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland, USA., Gloude N; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital San Diego, San Diego, California, USA., Goldman F; Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Alabama Birmingham, Birmingham, Alabama, USA., Hertel PM; Department of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Himes R; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Ochsner Health, New Orleans, Louisiana, USA., Keel SB; Department of Hematology, University of Washington, Seattle, Washington, USA., Koura DT; Division of Hematology-Oncology and Bone Marrow Transplantation, Department of Medicine, University of California, San Diego, San Diego, California, USA., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kulkarni S; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Washington University in St. Louis, St. Louis, Missouri, USA., Liou I; Division of Gastroenterology, Department of Medicine, University of Washington, Seattle, Washington, USA., Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Nastasio S; Department of Gastroenterology/Hepatology, Boston Children's Hospital, Boston, Massachusetts, USA., Niewisch MR; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy.; Division of Hematology-Oncology and Bone Marrow Transplantation, Department of Medicine, University of California, San Diego, San Diego, California, USA., Penrice DD; Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Sasa GS; Sarah Cannon Transplant and Cellular Therapy Network, San Antonio, Texas, USA., Savage SA; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy., Simonetto DA; Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Ziegler DS; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Kensington, NSW, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Miethke AG; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Myers KC; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

مؤلفون مشاركون: Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)

المصدر: Hepatology communications [Hepatol Commun] 2024 Jun 19; Vol. 8 (7). Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101695860 Publication Model: eCollection Cited Medium: Internet ISSN: 2471-254X (Electronic) Linking ISSN: 2471254X NLM ISO Abbreviation: Hepatol Commun Subsets: MEDLINE

مواضيع طبية MeSH: Liver Transplantation*, Humans ; Female ; Male ; Retrospective Studies ; Adult ; Middle Aged ; Telomere ; Adolescent ; Liver Diseases/surgery ; Liver Diseases/genetics ; Young Adult ; Child ; Treatment Outcome ; Child, Preschool

المؤلفون: Kastellan S; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kalb R; Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany., Sajjad B; Clinical Genetics Branch Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., McReynolds LJ; Clinical Genetics Branch Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Giri N; Clinical Genetics Branch Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Samuel D; Department of Hematology-Oncology, Valley Children's Hospital, Madera, CA, USA., Milde T; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.; National Center for Tumor Diseases (NCT), Heidelberg, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Holzhauer S; Department of Pediatric Hematology and Oncology, Charité University Medicine, Berlin, Germany., Niewisch MR; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany. kratz.christian@mh-hannover.de.

المصدر: Journal of hematology & oncology [J Hematol Oncol] 2024 Apr 29; Vol. 17 (1), pp. 26. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Research Support, Non-U.S. Gov't; Letter

بيانات الدورية: Publisher: Biomed Central Country of Publication: England NLM ID: 101468937 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-8722 (Electronic) Linking ISSN: 17568722 NLM ISO Abbreviation: J Hematol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: BRCA2 Protein*/genetics , Medulloblastoma*/genetics , Medulloblastoma*/mortality , Medulloblastoma*/pathology , Medulloblastoma*/therapy , Germ-Line Mutation* , Fanconi Anemia*/genetics, Humans ; Male ; Child, Preschool ; Female ; Infant ; Cohort Studies ; Cerebellar Neoplasms/genetics ; Cerebellar Neoplasms/pathology ; Cerebellar Neoplasms/mortality ; Alleles

المؤلفون: Dutzmann CM; Department of Pediatric Hematology and Oncology, Hannover Medical School., Palmaers NE; Department of Pediatric Hematology and Oncology, Hannover Medical School., Müntnich LJ; Department of Pediatric Hematology and Oncology, Hannover Medical School., Strüwe FJ; Department of Pediatric Hematology and Oncology, Hannover Medical School., Penkert J; Department of Pediatric Hematology and Oncology, Hannover Medical School., Sänger B; Department of Pediatric Hematology and Oncology, Hannover Medical School., Hoffmann B; Department of Pediatric Hematology and Oncology, Hannover Medical School., Karow A; Department of Pediatric Hematology and Oncology, Hannover Medical School., Reimer C; Department of Pediatric Hematology and Oncology, Hannover Medical School., Gerasimov T; Department of Pediatric Hematology and Oncology, Hannover Medical School., Niewisch MR; Department of Pediatric Hematology and Oncology, Hannover Medical School., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School.

المصدر: Journal of health monitoring [J Health Monit] 2023 Dec 13; Vol. 8 (4), pp. 17-23. Date of Electronic Publication: 2023 Dec 13 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Robert Koch-Institut Country of Publication: Germany NLM ID: 101757730 Publication Model: eCollection Cited Medium: Internet ISSN: 2511-2708 (Electronic) Linking ISSN: 25112708 NLM ISO Abbreviation: J Health Monit Subsets: PubMed not MEDLINE

المؤلفون: Niewisch MR; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Beier F; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Germany., Savage SA; Clinical Genetics Branch, Division of Cancer and Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.

المصدر: Hematology. American Society of Hematology. Education Program [Hematology Am Soc Hematol Educ Program] 2023 Dec 08; Vol. 2023 (1), pp. 563-572.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 100890099 Publication Model: Print Cited Medium: Internet ISSN: 1520-4383 (Electronic) Linking ISSN: 15204383 NLM ISO Abbreviation: Hematology Am Soc Hematol Educ Program Subsets: MEDLINE

مواضيع طبية MeSH: Hematologic Diseases* , Neoplasms*/diagnosis , Neoplasms*/genetics, Adult ; Humans ; Germ-Line Mutation ; Telomere/genetics ; Biology

المؤلفون: Vittal A; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Niewisch MR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Bhala S; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Kudaravalli P; Department of Internal Medicine, SUNY Upstate Medical University, Syracuse, New York, USA., Rahman F; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Hercun J; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Kleiner DE; Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland, USA., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Koh C; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

المصدر: Hepatology (Baltimore, Md.) [Hepatology] 2023 Dec 01; Vol. 78 (6), pp. 1777-1787. Date of Electronic Publication: 2023 May 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

مواضيع طبية MeSH: Dyskeratosis Congenita*/complications , Dyskeratosis Congenita*/genetics , Digestive System Diseases* , Hypertension, Portal*/genetics , Hypertension, Portal*/complications , Vascular Diseases*/complications , Telomerase*/genetics , Telomerase*/metabolism, Humans ; Male ; Female ; Telomere/metabolism ; Disease Progression ; Biology ; Mutation

SCR Disease Name: Dyskeratosis Congenita, Autosomal Dominant

المؤلفون: Raj HA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, USA., Lai TP; Center of Human Development and Aging, Rutgers University of New Jersey, New Jersey Medical School, Newark, New Jersey, USA., Niewisch MR; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, USA.; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Giri N; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, USA., Wang Y; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, USA., Spellman SR; Center for International Blood and Marrow Transplant Research, National Marrow Donor Program/Be The Match, Minneapolis, Minnesota, USA., Aviv A; Center of Human Development and Aging, Rutgers University of New Jersey, New Jersey Medical School, Newark, New Jersey, USA., Gadalla SM; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, USA., Savage SA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, USA.

المصدر: British journal of haematology [Br J Haematol] 2023 Dec; Vol. 203 (5), pp. 820-828. Date of Electronic Publication: 2023 Jun 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Bone Marrow Failure Disorders* , Dyskeratosis Congenita*/genetics , Pancytopenia*, Humans ; Biology ; Telomere/genetics ; Telomere Shortening

المؤلفون: Gutierrez-Rodrigues F; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Munger E; Department of Bioinformatics and Computational Biology, George Mason University, Fairfax, VA., Ma X; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Groarke EM; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Tang Y; Imaging Biomarkers and Computer-Aided Diagnosis Laboratory, NIH Clinical Center, Bethesda, MD., Patel BA; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Catto LFB; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Clé DV; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Niewisch MR; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute (NCI), NIH, Bethesda, MD., Alves-Paiva RM; Hemotherapy and Cell Therapy Branch, Albert Einstein Hospital, São Paulo, Brazil., Donaires FS; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Pinto AL; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Borges G; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Santana BA; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., McReynolds LJ; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute (NCI), NIH, Bethesda, MD., Giri N; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute (NCI), NIH, Bethesda, MD., Altintas B; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute (NCI), NIH, Bethesda, MD., Fan X; Translational Stem Cell Biology Branch, NHLBI, NIH, Bethesda, MD., Shalhoub R; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Siwy CM; Department of Clinical Reseach Infomatics, NIH Clinical Center, Bethesda, MD., Diamond C; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Raffo DQ; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Craft K; Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD., Kajigaya S; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD., Summers RM; Imaging Biomarkers and Computer-Aided Diagnosis Laboratory, NIH Clinical Center, Bethesda, MD., Liu P; Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD., Cunningham L; Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD., Hickstein DD; Experimental Transplantation and Immunology Branch, NCI, NIH, Bethesda, MD., Dunbar CE; Translational Stem Cell Biology Branch, NHLBI, NIH, Bethesda, MD., Pasquini R; Bone Marrow Transplantation Unit, Federal University of Parana, Curitiba, PR., De Oliveira MM; Bone Marrow Transplantation Unit, Federal University of Parana, Curitiba, PR., Velloso EDRP; Hemotherapy and Cell Therapy Branch, Albert Einstein Hospital, São Paulo, Brazil.; Service of Hematology, Transfusion and Cell Therapy and Laboratory of Medical Investigation in Pathogenesis and Directed Therapy in Onco-Immuno-Hematology (LIM-31) HCFMUSP, University of Sao Paulo Medical School, São Paulo, Brazil., Alter BP; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute (NCI), NIH, Bethesda, MD., Savage SA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute (NCI), NIH, Bethesda, MD., Bonfim C; Bone Marrow Transplantation Unit, Federal University of Parana, Curitiba, PR.; Instituto de Pesquisa Pele Pequeno Principe, Curitiba, PR., Wu CO; Office of Biostatistics Research, NHLBI, NIH, Bethesda, MD., Calado RT; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Young NS; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD.

المصدر: Blood [Blood] 2023 Apr 27; Vol. 141 (17), pp. 2100-2113.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Bone Marrow Diseases*/diagnosis , Bone Marrow Diseases*/genetics , Bone Marrow Diseases*/therapy , Anemia, Aplastic*/diagnosis , Anemia, Aplastic*/genetics , Anemia, Aplastic*/therapy , Pancytopenia*/diagnosis, Humans ; Diagnosis, Differential ; Bone Marrow Failure Disorders/diagnosis

المؤلفون: Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA., Jones K; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.; Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Teshome K; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.; Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Lori A; American Cancer Society, Atlanta, Georgia, USA., McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA., Niewisch MR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.

المصدر: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1856-1859. Date of Electronic Publication: 2022 Sep 24.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, P.H.S.; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 17*/genetics , Dyskeratosis Congenita*/genetics , Molecular Chaperones*/genetics , Telomerase*/genetics, Humans ; Genetic Variation ; Germ-Line Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Sequence Analysis, DNA

المؤلفون: Niewisch MR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD., McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD., Alsaggaf R; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD., Bhala S; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD., Alter BP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.

المصدر: Blood [Blood] 2022 Mar 24; Vol. 139 (12), pp. 1807-1819.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Dyskeratosis Congenita*/genetics , Dyskeratosis Congenita*/therapy , Telomerase*/genetics , Telomerase*/metabolism, Biology ; Disease Progression ; Humans ; Male ; Telomere/genetics ; Telomere/metabolism ; Telomere Shortening