Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia-Reference-Cited by-同舟云学术

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Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

Published:2016-06-02 Issue:10 Volume:30 Page:2083-2086
ISSN:0887-6924
Container-title:Leukemia
language:en
Short-container-title:Leukemia

Author:

Cardoso S R,Ryan G,Walne A J,Ellison A,Lowe R,Tummala H,Rio-Machin A,Collopy L,Al Seraihi A,Wallis Y,Page P,Akiki S,Fitzgibbon J,Vulliamy T,Dokal I

Publisher

Springer Science and Business Media LLC

Subject

Oncology,Cancer Research,Hematology

Link

http://www.nature.com/articles/leu2016124.pdf

Reference13 articles.

1. Song W-J, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166–175.

2. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J . Mutation of CEBPA in familial acute myeloid leukaemia. N Engl J Med 2004; 351: 2403–2407.

3. Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukaemia. Hum Mutat 2009; 30: 1567–1573.

4. Hahn C N, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukaemia. Nat Genet 2011; 43: 1012–1019.

5. Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukaemia (Emberger syndrome). Nat Genet 2011; 43: 929–931.

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3. Secondary myeloid neoplasms;Atlas of Hematopathology with 100 Case Studies;2024

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