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Blood, ISSN 0006-4971, 06/2011, Volume 117, Issue 22, pp. 5860 - 5869
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 1796 - 1798
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2015, Volume 125, Issue 8, p. 3304
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, p. 1796
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 1796 - 1796
Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance;... 
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 1796 - 1798
Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance;... 
Exoribonucleases - deficiency | Humans | Female | Male | Mutation | Telomere Homeostasis - genetics | Dyskeratosis Congenita - genetics
Journal Article
Best Practice & Research: Clinical Haematology, ISSN 1521-6926, 2014, Volume 28, Issue 1, pp. 55 - 68
Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased... 
Hematology, Oncology and Palliative Medicine | familial MDS | CEBPA | Shwachman-Diamond Syndrome | Diamond-Blackfan Anemia | Severe Congenital Neutropenia | MonoMac | FPD/AML | Fanconi Anemia | familial leukemia | GATA2 | Dyskeratosis Congenita | RUNX1 | SRP72 | bone marrow failure syndromes | Emberger Syndrome | myelodysplastic syndromes | genetic predisposition | MDS | Congenital Amegakaryocytic Thrombocytopenia | Thrombocytopenia | Congenital Amegakaryocytic | genetic predisposition familial | Keywords myelodysplastic syndromes | FAMILIAL PLATELET DISORDER | BLACKFAN ANEMIA | G-CSF THERAPY | DYSKERATOSIS-CONGENITA | HEMATOLOGY | ACUTE MYELOID-LEUKEMIA | SHWACHMAN-DIAMOND-SYNDROME | FANCONI-ANEMIA | AUTOSOMAL-DOMINANT | Genetic Predisposition to Disease | Leukemia, Myeloid, Acute - pathology | Humans | Signal Recognition Particle - genetics | Hematopoietic Stem Cell Transplantation | Antineoplastic Agents - therapeutic use | Dyskeratosis Congenita - genetics | Myelodysplastic Syndromes - diagnosis | Myelodysplastic Syndromes - therapy | Fanconi Anemia - diagnosis | Leukemia, Myeloid, Acute - diagnosis | Dyskeratosis Congenita - diagnosis | Adolescent | Dyskeratosis Congenita - pathology | Fanconi Anemia - pathology | Aged | Fanconi Anemia - genetics | Myelodysplastic Syndromes - genetics | CCAAT-Enhancer-Binding Proteins - genetics | Mutation | Myelodysplastic Syndromes - pathology | Core Binding Factor Alpha 2 Subunit - genetics | GATA2 Transcription Factor - genetics | Leukemia, Myeloid, Acute - genetics | Leukemia | Fanconi's anemia | AML | Myelodysplastic syndromes | FPD
Journal Article
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2013, Volume 59, Issue 1, p. 51
  The remaining patients may lack a molecular diagnosis because (a) clinical genetic testing of individual genes is expensive, limiting how many genetic tests... 
Genes | Genetics | Mutation | Telomerase
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2013, Volume 59, Issue 1, pp. 51 - 51
Journal Article
Clinical chemistry, ISSN 0009-9147, 1/2013, Volume 59, Issue 1, pp. 51 - 51
Journal Article
BLOOD, ISSN 0006-4971, 06/2011, Volume 117, Issue 22, pp. 5860 - 5869
Overexpression of high mobility group AT-hook 2 (HMGA2) is found in a number of benign and malignant tumors, including the clonal PIGA(-) cells in 2 cases of... 
V617F MUTATION | PIG-A GENE | POLYCYTHEMIA-VERA | EMBRYONIC STEM-CELLS | TYROSINE KINASE JAK2 | MYELOPROLIFERATIVE NEOPLASMS | SELF-RENEWAL | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | HEMATOLOGY | MYELOID METAPLASIA | TRANSGENIC MICE | Hematopoiesis and Stem Cells | Myeloid Neoplasia
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2008, Volume 105, Issue 29, pp. 10173 - 10178
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 10/2015, Volume 373, Issue 17, p. 1673
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, p. e0152263
MDM2, an E3 ubiquitin ligase, is an important negative regulator of tumor suppressor p53. In turn the Mdm2 gene is a transcriptional target of p53, forming a... 
HEMATOPOIETIC-CELLS | IN-VITRO | PATHWAY | P53 ACTIVATION | MULTIDISCIPLINARY SCIENCES | EXPANSION | GROWTH | DIAMOND-BLACKFAN ANEMIA | PHENOTYPE | S19 DEFICIENCY | L11 | Erythropoiesis | Proto-Oncogene Proteins c-mdm2 - genetics | Ribosomes - metabolism | Mutation, Missense | Tumor Suppressor Protein p53 - genetics | Ribosomal Proteins - metabolism | Bone Marrow - metabolism | Anemia, Diamond-Blackfan - pathology | Proto-Oncogene Proteins c-mdm2 - metabolism | Myelodysplastic Syndromes - metabolism | Ribosomal Proteins - genetics | Erythroid Cells - metabolism | Tumor Suppressor Protein p53 - metabolism | Anemia, Diamond-Blackfan - metabolism | Haploinsufficiency | Mice, Knockout | Animals | Ribosomes - genetics | Anemia, Diamond-Blackfan - genetics | Bone Marrow - pathology | Erythroid Cells - pathology | Mice | Myelodysplastic Syndromes - genetics | Myelodysplastic Syndromes - pathology | Amino Acid Substitution | Physiological aspects | Genetic aspects | Research | Gene mutations | Ligases | Transcription | Laboratories | p53 Protein | Genes | DNA damage | Ribosomal DNA | Feedback loops | Blood | Myelodysplastic syndrome | Defects | Amino acid substitution | Proteins | Negative feedback | Hematopoiesis | Cell cycle | Bone marrow | Evolution | Inhibition | Ubiquitin-protein ligase | Deoxyribonucleic acid--DNA | Spleen | MDM2 protein | Adenosine | Hematology | Repopulation | Anemia | Cell division | Cultures | Erythroid cells | c-Kit protein | Hemopoiesis | Children & youth | Methylcellulose | Ribosomal proteins | Aplasia | Stem cells | Tumor suppressor genes | Mutation | Bone | Control theory | Cancer | Deoxyribonucleic acid | DNA
Journal Article
Leukemia & Lymphoma, ISSN 1042-8194, 03/2016, Volume 57, Issue 3, pp. 520 - 536
Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective hematopoiesis, cytopenias, dysplasia and an increased risk of acute... 
bone marrow failure | clonal hematopoiesis | genetic predisposition | aplastic anemia | familial MDS/AML | Genetic predisposition | Bone marrow failure | Aplastic anemia | Clonal hematopoiesis | Familial MDS/AML | FAMILIAL PLATELET DISORDER | PRIMARY LYMPHEDEMA | SEVERE CONGENITAL NEUTROPENIA | SHWACHMAN-DIAMOND SYNDROME | FANCONI-ANEMIA | ACQUIRED APLASTIC-ANEMIA | ONCOLOGY | AUTOSOMAL-DOMINANT | STEM-CELL TRANSPLANTATION | HEMATOLOGY | BONE-MARROW FAILURE | Age Factors | Humans | Leukemia, Myeloid, Acute - epidemiology | Signal Recognition Particle - genetics | Male | Genetic Counseling | Incidence | Myelodysplastic Syndromes - prevention & control | Thrombocytopenia - genetics | Female | CCAAT-Enhancer-Binding Proteins - genetics | Genomics - methods | Nuclear Proteins - genetics | GATA2 Transcription Factor - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Leukemia, Myeloid, Acute - prevention & control | Myelodysplastic Syndromes - epidemiology | Syndrome | Haploinsufficiency | DEAD-box RNA Helicases - genetics | Myelodysplastic Syndromes - diagnosis | Leukemia, Myeloid, Acute - diagnosis | Thrombocytopenia - diagnosis | Disease Management | Myelodysplastic Syndromes - genetics | Core Binding Factor Alpha 2 Subunit - genetics | Population Surveillance | Leukemia, Myeloid, Acute - genetics | familial MDS | AML
Journal Article
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