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المؤلفون: Kusne Y; Department of Hematology and Oncology, Mayo Clinic, Phoenix, AZ., Ghorbanzadeh A; Division of Vascular Medicine, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Dulau-Florea A; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Shalhoub R; Office of Biostatistics Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Alcedo PE; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Nghiem K; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Ferrada MA; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD., Hines A; Department of Dermatology, Mayo Clinic, Rochester, MN., Quinn KA; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD., Panicker SR; Laboratory of Vascular Thrombosis and Inflammation, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Ombrello AK; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Reichard K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Darden I; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Goodspeed W; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD., Durrani J; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Wilson L; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Olteanu H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Lasho T; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Warrington KJ; Division of Rheumatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Mangaonkar A; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Go RS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Braylan RC; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Beck DB; Laboratory of Vascular Thrombosis and Inflammation, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY., Patnaik MM; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Young NS; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Calvo KR; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Casanegra AI; Division of Vascular Medicine, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Grayson PC; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD., Koster MJ; Division of Rheumatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Wu CO; Office of Biostatistics Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Kanthi Y; Laboratory of Vascular Thrombosis and Inflammation, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Patel BA; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Houghton DE; Division of Vascular Medicine, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Groarke EM; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

المصدر: Blood [Blood] 2024 May 23; Vol. 143 (21), pp. 2190-2200.

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: Thrombosis*/etiology , Thrombosis*/genetics , Thrombosis*/epidemiology, Humans ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Ubiquitin-Activating Enzymes/genetics ; Young Adult ; Risk Factors ; Aged ; Child ; Venous Thrombosis/etiology ; Venous Thrombosis/epidemiology ; Venous Thrombosis/genetics ; Incidence ; Mutation ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/complications ; Child, Preschool

المؤلفون: Wu Z; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Young NS; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

المصدر: Blood [Blood] 2023 Oct 05; Vol. 142 (14), pp. 1193-1207.

نوع المنشور: Review; Journal Article; Research Support, N.I.H., Intramural

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: Pancytopenia* , Anemia, Aplastic*/genetics, Humans ; Bone Marrow Failure Disorders ; Hematopoiesis/genetics ; Syndrome ; Genomics

المؤلفون: Gutierrez-Rodrigues F; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Kusne Y; Division of Hematology and Oncology, Mayo Clinic, Phoenix, AZ., Fernandez J; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Lasho T; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Shalhoub R; Office of Biostatistics Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Ma X; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Alessi H; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National institutes of Health, Bethesda, MD., Finke C; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Koster MJ; Division of Rheumatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Mangaonkar A; Division of Rheumatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Warrington KJ; Division of Rheumatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Begna K; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Xie Z; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Ombrello AK; Inflammatory Disease Section, National Human Genome Research Institute, National institute of Health, Bethesda, MD., Viswanatha D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Ferrada M; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National institutes of Health, Bethesda, MD., Wilson L; Inflammatory Disease Section, National Human Genome Research Institute, National institute of Health, Bethesda, MD., Go R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kourelis T; Division of Hematology and Oncology, Mayo Clinic, Phoenix, AZ., Reichard K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Olteanu H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Darden I; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Hironaka D; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Alemu L; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Kajigaya S; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Rosenzweig S; Inflammatory Disease Section, National Human Genome Research Institute, National institute of Health, Bethesda, MD., Calado RT; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Groarke EM; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, National institute of Health, Bethesda, MD., Calvo KR; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Wu CO; Office of Biostatistics Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Grayson PC; Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal, and Skin Diseases, National institutes of Health, Bethesda, MD., Young NS; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Beck DB; Inflammatory Disease Section, National Human Genome Research Institute, National institute of Health, Bethesda, MD.; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY.; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY., Patel BA; Hematology Branch, National Heart, Lung, and Blood Institute, National institutes of Health, Bethesda, MD., Patnaik MM; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN.

المصدر: Blood [Blood] 2023 Jul 20; Vol. 142 (3), pp. 244-259.

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

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: Clonal Hematopoiesis*/genetics , Dermatitis*, Humans ; Prospective Studies ; Retrospective Studies ; Mutation

SCR Disease Name: VEXAS syndrome

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: Groarke EM; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Feng X; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Aggarwal N; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Manley AL; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Wu Z; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Gao S; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Patel BA; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Chen J; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Young NS; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

المصدر: Blood [Blood] 2023 Jan 05; Vol. 141 (1), pp. 72-89.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural

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: Pancytopenia*/pathology , Anemia, Aplastic*/pathology , Bone Marrow Diseases*/pathology, Mice ; Humans ; Animals ; Bone Marrow Failure Disorders/pathology ; Bone Marrow/pathology ; Janus Kinase 1