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Blood, ISSN 0006-4971, 12/2010, Volume 116, Issue 23, pp. 4990 - 5001
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 03/2015, Volume 90, Issue 3, pp. E44 - E48
X‐linked thrombocytopenia with thalassemia (XLTT) is caused by the mutation 216R > Q in exon 4 of the GATA1 gene. Male hemizygous patients display... 
POLYCYTHEMIA-VERA | ACTIVATION | GATA1 ARG216GLN MUTATION | ERYTHROPOIESIS | CALRETICULIN | GRAY PLATELET SYNDROME | IDIOPATHIC MYELOFIBROSIS | MEGAKARYOCYTES | MYELOPROLIFERATIVE NEOPLASMS | HEMATOLOGY | EXPRESSION | beta-Thalassemia - pathology | Angiogenic Proteins - genetics | Leukocytes, Mononuclear - metabolism | Reticulin - chemistry | Humans | Middle Aged | Neovascularization, Pathologic | beta-Thalassemia - genetics | Genetic Diseases, X-Linked - complications | Male | Vascular Endothelial Growth Factor A - metabolism | beta-Thalassemia - complications | Primary Myelofibrosis - pathology | Vascular Endothelial Growth Factor A - genetics | Case-Control Studies | Thrombocytopenia - complications | Thrombocytopenia - genetics | Bone Marrow - metabolism | Adult | Genetic Diseases, X-Linked - genetics | Megakaryocytes - metabolism | Severity of Illness Index | Primary Myelofibrosis - diagnosis | Diagnosis, Differential | Gene Expression | Reticulin - metabolism | Thrombocytopenia - pathology | GATA1 Transcription Factor - metabolism | beta-Thalassemia - diagnosis | Genetic Diseases, X-Linked - diagnosis | Leukocytes, Mononuclear - pathology | Megakaryocytes - pathology | Primary Myelofibrosis - genetics | Pedigree | Bone Marrow - pathology | Fibrosis | GATA1 Transcription Factor - genetics | Genetic Diseases, X-Linked - pathology | Thrombocytopenia - diagnosis | Aged | Connective Tissue Growth Factor - genetics | Mutation | Angiogenic Proteins - metabolism | Connective Tissue Growth Factor - metabolism | Index Medicus | Clinical Medicine | Medical and Health Sciences | Hematology | Hematologi | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
International Journal of Laboratory Hematology, ISSN 1751-5521, 02/2013, Volume 35, Issue 1, pp. 14 - 25
Inherited thrombocytopenias vary in their presentation, associated features, and molecular etiologies. An accurate diagnosis is important to provide... 
Thrombocytopenia | megakaryocyte | hematopoiesis | congenital platelet disorder | Thrombopoietin | Megakaryocyte | Congenital platelet disorder | Hematopoiesis | ABSENT RADIUS SYNDROME | GATA1 ARG216GLN MUTATION | RADIOULNAR SYNOSTOSIS | GRAY PLATELET SYNDROME | ACUTE MYELOID-LEUKEMIA | C-MPL MUTATIONS | CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA | HEMATOPOIETIC STEM-CELLS | OF-THE-LITERATURE | HEMATOLOGY | BONE-MARROW FAILURE | Thrombopoiesis | Humans | Blood Platelet Disorders - congenital | Blood Platelet Disorders - physiopathology | Ulna - abnormalities | Synostosis - genetics | Ulna - physiopathology | Thrombocytopenia - genetics | Upper Extremity Deformities, Congenital - therapy | von Willebrand Disease, Type 2 - diagnosis | Synostosis - physiopathology | Synostosis - therapy | Thrombocytopenia - therapy | Megakaryocytes - cytology | Megakaryocytes - metabolism | Thrombocytopenia - etiology | Thrombocytopenia - congenital | Radius - physiopathology | Thrombocytopenia - physiopathology | Radius - abnormalities | Upper Extremity Deformities, Congenital - genetics | Blood Platelet Disorders - diagnosis | von Willebrand Disease, Type 2 - therapy | Upper Extremity Deformities, Congenital - diagnosis | Synostosis - diagnosis | Megakaryocytes - pathology | Blood Platelet Disorders - therapy | Upper Extremity Deformities, Congenital - physiopathology | von Willebrand Disease, Type 2 - genetics | Thrombocytopenia - diagnosis | von Willebrand Disease, Type 2 - physiopathology | Index Medicus
Journal Article
Expert Review of Hematology, ISSN 1747-4086, 08/2011, Volume 4, Issue 4, pp. 455 - 472
Journal Article
Journal Article