4.0 Article

Distinguishing constitutional from acquired bone marrow failure in the hematology clinic

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Critical Care Medicine

Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis

Richard J. Allen et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2020)

Article Medicine, Research & Experimental

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Adriana A. de Jesus et al.

JOURNAL OF CLINICAL INVESTIGATION (2020)

Review Hematology

Diamond-Blackfan anemia

Lydie Da Costa et al.

Article Peripheral Vascular Disease

Understanding the evolving phenotype of vascular complications in telomere biology disorders

Cecilia Higgs et al.

ANGIOGENESIS (2019)

Review Hematology

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia

Pallavi Galera et al.

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2019)

Review Genetics & Heredity

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience

Lydie Da Costa et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)

Article Hematology

Rational management approach to pure red cell aplasia

Suresh Kumar Balasubramanian et al.

HAEMATOLOGICA (2018)

Article Hematology

Rational management approach to pure red cell aplasia

Suresh Kumar Balasubramanian et al.

HAEMATOLOGICA (2018)

Article Oncology

Germline GATA2 Mutation and Bone Marrow Failure

Lisa J. McReynolds et al.

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2018)

Article Medicine, Research & Experimental

Short telomere syndromes cause a primary T cell immunodeficiency

Christa L. Wagner et al.

JOURNAL OF CLINICAL INVESTIGATION (2018)

Review Medicine, General & Internal

Aplastic Anemia

Neal S. Young

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Hematology

Germline ETV6 mutations and predisposition to hematological malignancies

Simone Feurstein et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2017)

Article Medicine, Research & Experimental

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Federica Buonocore et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

Article Hematology

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)

Brigitte Schlegelberger et al.

SEMINARS IN HEMATOLOGY (2017)

Article Education, Scientific Disciplines

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes

Allison H. West et al.

HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2017)

Article Biochemistry & Molecular Biology

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation

Ah Ram Kim et al.

Review Hematology

LGL leukemia: from pathogenesis to treatment

Thierry Lamy et al.

Article Genetics & Heredity

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Dong-Hui Chen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Review Hematology

Pure red cell aplasia

Robert T. Means

Article Medicine, General & Internal

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

T. Yoshizato et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Hematology

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

John H. Fargo et al.

BRITISH JOURNAL OF HAEMATOLOGY (2013)

Letter Cardiac & Cardiovascular Systems

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: A national survey

Quentin Hauet et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)

Article Medicine, Research & Experimental

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Vijay G. Sankaran et al.

JOURNAL OF CLINICAL INVESTIGATION (2012)

Article Multidisciplinary Sciences

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

Yigal Dror et al.

ANNALS MEETING REPORTS (2011)

Article Genetics & Heredity

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact

Maria Castella et al.

JOURNAL OF MEDICAL GENETICS (2011)

Review Hematology

Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura et al.

BLOOD REVIEWS (2010)

Review Gastroenterology & Hepatology

Systematic review: hepatitis-associated aplastic anaemia - a syndrome associated with abnormal immunological function

R. Gonzalez-Casas et al.

ALIMENTARY PHARMACOLOGY & THERAPEUTICS (2009)

Article Oncology

Congenital Amegakaryocytic Thrombocytopenia and Thrombocytopenia with Absent Radii

Amy E. Geddis

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2009)

Article Endocrinology & Metabolism

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

Sanna Toiviainen-Salo et al.

Article Multidisciplinary Sciences

Adult-onset pulmonary fibrosis caused by mutations in telomerase

Kalliopi D. Tsakiri et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Genetics & Heredity

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS

O Mäkitie et al.

CLINICAL GENETICS (2004)

Review Hematology

Dyskeratosis congenita in all its forms

I Dokal

BRITISH JOURNAL OF HAEMATOLOGY (2000)