Pathophysiology and management of inherited bone marrow failure syndromes.
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Hereditary Predispositions to Myelodysplastic SyndromeDiseases associated with defective responses to DNA damageFanconi anemia and the cell cycle: new perspectives on aneuploidyStress and Non-Stress Roles of Inflammatory Signals during HSC Emergence and MaintenanceModeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome EngineeringTelomere length is associated with disease severity and declines with age in dyskeratosis congenitaLate Effects Screening Guidelines after Hematopoietic Cell Transplantation (HCT) for Inherited Bone Marrow Failure Syndromes (IBMFS): Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on LaThe genomics of inherited bone marrow failure: from mechanism to the clinic.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium InternatiAluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Genomic characterization of the inherited bone marrow failure syndromes.Inherited bone marrow failure syndromes in adolescents and young adults.Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?Neonatal manifestations of inherited bone marrow failure syndromes.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO.Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapyAnti-Müllerian hormone deficiency in females with Fanconi anemia.Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.The challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failureA comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma.Pearson syndrome in a Diamond-Blackfan anemia cohortDetection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes.The cancerous translation apparatusFanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy.Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.Marrow failure: a window into ribosome biologyComparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.Fanconi anemia and the development of leukemiaGenomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexityTelomere length in inherited bone marrow failure syndromesRare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia - a case report.A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Oxymetholone therapy of fanconi anemia suppresses osteopontin transcription and induces hematopoietic stem cell cycling.Neutrophil functions in patients with inherited bone marrow failure syndromesReduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromesDevelopment of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 geneGenetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.Immune status of patients with inherited bone marrow failure syndromes.
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Pathophysiology and management of inherited bone marrow failure syndromes.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 April 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pathophysiology and management of inherited bone marrow failure syndromes.
@en
Pathophysiology and management of inherited bone marrow failure syndromes.
@nl
type
label
Pathophysiology and management of inherited bone marrow failure syndromes.
@en
Pathophysiology and management of inherited bone marrow failure syndromes.
@nl
prefLabel
Pathophysiology and management of inherited bone marrow failure syndromes.
@en
Pathophysiology and management of inherited bone marrow failure syndromes.
@nl
P2860
P1433
P1476
Pathophysiology and management of inherited bone marrow failure syndromes.
@en
P2093
Akiko Shimamura
Blanche P Alter
P2860
P304
P356
10.1016/J.BLRE.2010.03.002
P577
2010-04-24T00:00:00Z