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Blood, ISSN 0006-4971, 03/2018, Volume 131, Issue 13, pp. 1406 - 1414
Pediatric myelodysplastic syndromes (MDSs) are a heterogeneous group of clonal disorders with an annual incidence of 1 to 4 cases per million, accounting for... 
REFRACTORY CYTOPENIA | FANCONI-ANEMIA REGISTRY | ACUTE LYMPHOBLASTIC-LEUKEMIA | JUVENILE MYELOMONOCYTIC LEUKEMIA | THERAPY-RELATED MYELODYSPLASIA | SEVERE APLASTIC-ANEMIA | ACUTE MYELOID-LEUKEMIA | RABBIT ANTITHYMOCYTE GLOBULIN | STEM-CELL TRANSPLANTATION | HEMATOLOGY | BONE-MARROW FAILURE
Journal Article
Blood, ISSN 0006-4971, 04/2017, Volume 129, Issue 16, pp. 2266 - 2279
Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied 2 families with cytopenia, predisposition to MDS... 
FAMILIAL TUMORAL CALCINOSIS | GERM-LINE | FANCONI-ANEMIA REGISTRY | HEMATOPOIETIC STEM-CELLS | IN-VIVO | SPONTANEOUS REMISSION | ACUTE MYELOID-LEUKEMIA | RETROSPECTIVE ANALYSIS | HEMATOLOGY | DETECTABLE CLONAL MOSAICISM | MYELODYSPLASTIC SYNDROMES | Cell Proliferation | Humans | Middle Aged | Pancytopenia - immunology | Male | Killer Cells, Natural - pathology | Cognitive Dysfunction - immunology | Interferon Type I - pharmacology | Myeloid Cells - immunology | Tumor Suppressor Proteins - genetics | Killer Cells, Natural - immunology | Adult | Cognitive Dysfunction - genetics | Female | Myeloid Cells - drug effects | Cognitive Dysfunction - diagnosis | B-Lymphocytes - pathology | Cognitive Dysfunction - complications | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Child | Gene Expression | Tumor Suppressor Proteins - metabolism | Immunologic Deficiency Syndromes - complications | Pancytopenia - diagnosis | Immunophenotyping | Myelodysplastic Syndromes - complications | B-Lymphocytes - drug effects | Hematopoiesis - immunology | Myelodysplastic Syndromes - diagnosis | B-Lymphocytes - immunology | Pancytopenia - complications | Pedigree | Alleles | Immunologic Deficiency Syndromes - genetics | Heterozygote | Mosaicism | Killer Cells, Natural - drug effects | Myelodysplastic Syndromes - genetics | Mutation | Myeloid Cells - pathology | Chromosomes, Human, Pair 7 - chemistry | Pancytopenia - genetics | Myelodysplastic Syndromes - immunology | Myeloid Neoplasia | Clinical Medicine | Medical and Health Sciences | Hematology | Hematologi | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 11, pp. e23 - e31
Journal Article
Journal Article
Blood, ISSN 0006-4971, 04/2004, Volume 103, Issue 7, pp. 2554 - 2559
The clinical, cytogenetic, and molecular findings of 2 Fanconi anemia (FA) subtype D1 kindreds, initially identified through a young child with a solid tumor... 
RECOMBINATION | PROTEIN | PATHWAY | FANCONI-ANEMIA REGISTRY | PATIENT | RADIOSENSITIVITY | LEUKEMIA | BRCA2 | HEMATOLOGY | CANCER | MEDULLOBLASTOMA | Chromosomal Instability - genetics | Kidney Neoplasms - genetics | Brain Stem Neoplasms - genetics | Mutagens | Neoplasms - genetics | Wilms Tumor - genetics | Humans | Genes, BRCA2 | Medulloblastoma - genetics | Child | Anemia, Aplastic - genetics | Siblings
Journal Article
Haematologica, ISSN 0390-6078, 2015, Volume 100, Issue 5, pp. 633 - 642
Journal Article
Journal Article
Journal Article