(Q33374981)

26 July 2017

1 reference

title

Current diagnosis of inherited bone marrow failure syndromes (English)

1 reference

26 July 2017

Hannah Tamary

1

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26 July 2017

Blanche P Alter

series ordinal

2

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26 July 2017

publication date

1 March 2007

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Pediatric Hematology and Oncology

26 July 2017

published in

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26 July 2017

volume

24

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26 July 2017

issue

2

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26 July 2017

page(s)

87-99

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The genetic basis of bone marrow failure syndromes in children

26 July 2017

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Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia

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Severe congenital neutropenia

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Molecular pathogenesis of Fanconi anemia: recent progress

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Cancer incidence in persons with Fanconi anemia.

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Biallelic inactivation of BRCA2 in Fanconi anemia

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The Fanconi anaemia/BRCA pathway

21 January 2018

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Tracing the network connecting BRCA and Fanconi anaemia proteins

21 January 2018

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Cancer genes and the pathways they control

21 January 2018

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Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

21 January 2018

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A novel diagnostic screen for defects in the Fanconi anemia pathway

21 January 2018

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Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

21 January 2018

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

21 January 2018

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A common Fanconi anemia mutation in black populations of sub-Saharan Africa

21 January 2018

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Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

21 January 2018

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Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs

21 January 2018

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Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood

21 January 2018

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A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

21 January 2018

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A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

21 January 2018

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

21 January 2018

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THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

21 January 2018

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CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

21 January 2018

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

21 January 2018

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Shwachman's syndrome: pathomorphosis and long-term outcome

21 January 2018

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The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

21 January 2018

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Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

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The Shwachman-Diamond SBDS protein localizes to the nucleolus

21 January 2018

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Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

21 January 2018

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Shwachman-Diamond syndrome: report from an international conference

21 January 2018

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

21 January 2018

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Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Infantile genetic agranulocytosis. A review with presentation of ten new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08880010601123240

10.1080/08880010601123240

21 January 2018

Identifiers

DOI

1 reference

26 July 2017

1 reference