Literature DB >> 19449416

Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.

P Callier1, L Faivre, N Marle, C Thauvin-Robinet, J Guy, A L Mosca, P D'Athis, A Masurel-Paulet, D Assous, J R Teyssier, F Huet, F Mugneret.   

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Year:  2009        PMID： 19449416     DOI： 10.1002/ajmg.a.32857

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Authors:  Jan Kazenwadel; Genevieve A Secker; Yajuan J Liu; Jill A Rosenfeld; Robert S Wildin; Jennifer Cuellar-Rodriguez; Amy P Hsu; Sarah Dyack; Conrad V Fernandez; Chan-Eng Chong; Milena Babic; Peter G Bardy; Akiko Shimamura; Michael Y Zhang; Tom Walsh; Steven M Holland; Dennis D Hickstein; Marshall S Horwitz; Christopher N Hahn; Hamish S Scott; Natasha L Harvey
Journal:  Blood       Date:  2011-12-06       Impact factor: 22.113

2.  Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Authors:  Pia Ostergaard; Michael A Simpson; Fiona C Connell; Colin G Steward; Glen Brice; Wesley J Woollard; Dimitra Dafou; Tatjana Kilo; Sarah Smithson; Peter Lunt; Victoria A Murday; Shirley Hodgson; Russell Keenan; Daniela T Pilz; Ines Martinez-Corral; Taija Makinen; Peter S Mortimer; Steve Jeffery; Richard C Trembath; Sahar Mansour
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

Review 3.  Heterogeneity of GATA2-related myeloid neoplasms.

Authors:  Shinsuke Hirabayashi; Marcin W Wlodarski; Emilia Kozyra; Charlotte M Niemeyer
Journal:  Int J Hematol       Date:  2017-06-22       Impact factor: 2.490
  3 in total

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