Current diagnosis of inherited bone marrow failure syndromes. - Wikidata - wikimedia - TriplyDB

Current diagnosis of inherited bone marrow failure syndromes.

Current diagnosis of inherited bone marrow failure syndromes.

http://www.wikidata.org/entity/Q33374981

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TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Hooked! Modeling human disease in zebrafish.Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.The role of telomere biology in bone marrow failure and other disorders ERCC1 is required for FANCD2 focus formation.TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.Management of acquired aplastic anemia in children.Fanconi anemia deficiency stimulates HPV-associated hyperplastic growth in organotypic epithelial raft culture.Impaired immune function in children and adults with Fanconi anemia.Antibody response to human papillomavirus vaccination and natural exposure in individuals with Fanconi Anemia.Analysis of component findings in 79 patients diagnosed with VACTERL association.

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Current diagnosis of inherited bone marrow failure syndromes.

http://www.wikidata.org/entity/Q33374981

description

2007 nî lūn-bûn

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2007 թուականի Մարտին հրատարակուած գիտական յօդուած

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2007 թվականի մարտին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Current diagnosis of inherited bone marrow failure syndromes.

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Current diagnosis of inherited bone marrow failure syndromes.

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type

label

Current diagnosis of inherited bone marrow failure syndromes.

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Current diagnosis of inherited bone marrow failure syndromes.

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prefLabel

Current diagnosis of inherited bone marrow failure syndromes.

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Current diagnosis of inherited bone marrow failure syndromes.

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Pediatric Hematology and Oncology

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Current diagnosis of inherited bone marrow failure syndromes.

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Blanche P Alter

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Hannah Tamary

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P2860

A telomerase component is defective in the human disease dyskeratosis congenita

The Shwachman-Diamond SBDS protein localizes to the nucleolus

Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

The Fanconi anaemia/BRCA pathway

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87-99

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scholarly article

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10.1080/08880010601123240

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2

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