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Blood, ISSN 0006-4971, 11/2017, Volume 130, Issue 21, pp. 2257 - 2264
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure,... 
2ND PEDIATRIC BLOOD | BLACKFAN ANEMIA | DYSKERATOSIS-CONGENITA | CONSENSUS CONFERENCE | MUTATIONS | SHWACHMAN-DIAMOND-SYNDROME | STEM-CELL TRANSPLANTATION | HEMATOLOGY | FANCONI-ANEMIA | CANCER | REGISTRY
Journal Article
Journal Article
Hematology, ISSN 1520-4391, 12/2017, Volume 2017, Issue 1, pp. 96 - 101
Despite significant progress in transplantation by the addition of alternative hematopoietic stem cell sources, many patients with inherited bone marrow... 
DIAGNOSIS | COLONY-STIMULATING FACTOR | MOUSE MODEL | DIAMOND-BLACKFAN ANEMIA | MECHANISMS | HEMATOLOGY | FANCONI-ANEMIA | APLASTIC-ANEMIA | CANCER | EDUCATION, SCIENTIFIC DISCIPLINES | L-LEUCINE IMPROVES | ANDROGEN THERAPY | Index Medicus | Inherited | Bone Marrow Failure
Journal Article
Blood Reviews, ISSN 0268-960X, 2007, Volume 22, Issue 3, pp. 141 - 153
Journal Article
Hematology, ISSN 1520-4391, 12/2017, Volume 2017, Issue 1, pp. 88 - 95
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure,... 
Inherited | Bone Marrow Failure
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2017, Volume 19, Issue 7, pp. 796 - 802
Journal Article
American Journal of Hematology, ISSN 0361-8609, 08/2015, Volume 90, Issue 8, pp. 702 - 708
Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman–Diamond syndrome... 
RESPONSES | IN-VITRO | COLONY-STIMULATING FACTOR | FANCONI-ANEMIA PATIENTS | DYSKERATOSIS-CONGENITA | MONONUCLEAR-CELLS | VIRUS-LIKE PARTICLES | NECROSIS-FACTOR-ALPHA | HEMATOLOGY | APLASTIC-ANEMIA | IMMUNODEFICIENCY | Hemoglobinuria, Paroxysmal - congenital | Dyskeratosis Congenita - drug therapy | Humans | Lipomatosis - congenital | Child, Preschool | Male | Anemia, Aplastic | Exocrine Pancreatic Insufficiency - diagnosis | Adrenal Cortex Hormones - therapeutic use | Exocrine Pancreatic Insufficiency - immunology | Dyskeratosis Congenita - diagnosis | T-Lymphocytes - drug effects | Tumor Necrosis Factor-alpha - immunology | Fanconi Anemia - pathology | B-Lymphocytes - pathology | Anemia, Diamond-Blackfan - pathology | Hemoglobinuria, Paroxysmal - diagnosis | Child | Membrane Proteins - biosynthesis | B-Lymphocytes - immunology | Anemia, Diamond-Blackfan - drug therapy | Bone Marrow Diseases - immunology | Adolescent | Bone Marrow Diseases - congenital | Lipomatosis - diagnosis | T-Lymphocytes - immunology | Fanconi Anemia - immunology | Killer Cells, Natural - drug effects | Granulocyte Colony-Stimulating Factor - immunology | Tumor Necrosis Factor-alpha - biosynthesis | Bone Marrow Diseases - diagnosis | Anemia, Diamond-Blackfan - immunology | Infant | Killer Cells, Natural - pathology | Case-Control Studies | Hemoglobinuria, Paroxysmal - immunology | Bone Marrow Diseases - drug therapy | Phytohemagglutinins - pharmacology | Killer Cells, Natural - immunology | Adult | Female | T-Lymphocytes - pathology | Immunoglobulins - biosynthesis | Cytokines - immunology | Exocrine Pancreatic Insufficiency - drug therapy | Lipomatosis - drug therapy | Membrane Proteins - immunology | Anemia, Diamond-Blackfan - diagnosis | Lipomatosis - immunology | B-Lymphocytes - drug effects | Fanconi Anemia - diagnosis | Granulocyte Colony-Stimulating Factor - biosynthesis | Interferon-gamma - immunology | Hemoglobinuria, Paroxysmal - drug therapy | Dyskeratosis Congenita - pathology | Family | Aged | Primary Cell Culture | Fanconi Anemia - drug therapy | Dyskeratosis Congenita - immunology | Cytokines - biosynthesis | Exocrine Pancreatic Insufficiency - congenital | Interferon-gamma - biosynthesis | immune deficiency | cytokines | Inherited bone marrow failure syndromes
Journal Article
Hematology, ISSN 1520-4391, 12/2017, Volume 2017, Issue 1, pp. 79 - 87
Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or... 
Bone Marrow Diseases - diagnosis | Humans | Genetic Diseases, Inborn - genetics | Bone Marrow Diseases - metabolism | Genetic Diseases, Inborn - metabolism | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Bone Marrow Diseases - genetics | Syndrome | Inherited | Bone Marrow Failure
Journal Article
Current Opinion in Pediatrics, ISSN 1040-8703, 02/2012, Volume 24, Issue 1, pp. 23 - 32
Purpose of review Inherited bone marrow failure syndromes (IBMFS) are a diverse set of genetic disorders characterized by the inability of the bone marrow to... 
Diamond-Blackfan anemia | dyskeratosis congenita | Shwachman-Diamond syndrome | congenital neutropenia | Fanconi anemia | inherited bone marrow failure syndromes | DIAGNOSIS | SEVERE CONGENITAL NEUTROPENIA | RISK | PATTERNS | MYELODYSPLASTIC SYNDROME | GENE | MALIGNANCIES |