about
Exome sequencing identifies MPL as a causative gene in familial aplastic anemiaDetection of clonal blood cells with specific chromosomal abnormalities in the general populationERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Neonatal manifestations of inherited bone marrow failure syndromes.Second Allogeneic Hematopoietic Cell Transplantation for Patients with Fanconi Anemia and Bone Marrow Failure.Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeresDysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patientsAdvances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies.Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemiaConditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.Recent insights into inherited bone marrow failure syndromes.Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromesFamilial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigationsHow I manage aplastic anaemia in children.Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.Management of acquired aplastic anemia in children.The clinical impact of copy number variants in inherited bone marrow failure syndromes.Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia.Prevalence of FA-D2 rare complementation group of Fanconi anemia in Serbia.Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.Maternal serum alpha-fetoprotein levels are normal in Fanconi anemia: Can it be a lack of postnatal inhibition of AFP gene resulting in the elevation?Identification of autoantibodies expressed in acquired aplastic anaemia.How I diagnose and manage individuals at risk for inherited myeloid malignancies.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Inherited bone marrow failure syndromes.
@en
Inherited bone marrow failure syndromes.
@nl
type
label
Inherited bone marrow failure syndromes.
@en
Inherited bone marrow failure syndromes.
@nl
prefLabel
Inherited bone marrow failure syndromes.
@en
Inherited bone marrow failure syndromes.
@nl
P2860
P1433
P1476
Inherited bone marrow failure syndromes.
@en
P2093
Inderjeet Dokal
Tom Vulliamy
P2860
P304
P356
10.3324/HAEMATOL.2010.025619
P577
2010-08-01T00:00:00Z