Literature DB >> 20675743

Inherited bone marrow failure syndromes.

Inderjeet Dokal, Tom Vulliamy.   

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Year:  2010        PMID: 20675743      PMCID: PMC2913069          DOI: 10.3324/haematol.2010.025619

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


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4.  Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

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Journal:  Haematologica       Date:  2010-04-30       Impact factor: 9.941

5.  X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

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

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7.  Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

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Review 1.  Neonatal manifestations of inherited bone marrow failure syndromes.

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2.  Prevalence of FA-D2 rare complementation group of Fanconi anemia in Serbia.

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7.  Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia.

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8.  Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome.

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