Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome-Reference-Cited by-同舟云学术

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Published:2012-02-26 Issue:4 Volume:44 Page:445-449
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Van Houdt Jeroen K J,Nowakowska Beata Anna,Sousa Sérgio B,van Schaik Barbera D C,Seuntjens Eve,Avonce Nelson,Sifrim Alejandro,Abdul-Rahman Omar A,van den Boogaard Marie-José H,Bottani Armand,Castori Marco,Cormier-Daire Valérie,Deardorff Matthew A,Filges Isabel,Fryer Alan,Fryns Jean-Pierre,Gana Simone,Garavelli Livia,Gillessen-Kaesbach Gabriele,Hall Bryan D,Horn Denise,Huylebroeck Danny,Klapecki Jakub,Krajewska-Walasek Malgorzata,Kuechler Alma,Lines Matthew A,Maas Saskia,MacDermot Kay D,McKee Shane,Magee Alex,de Man Stella A,Moreau Yves,Morice-Picard Fanny,Obersztyn Ewa,Pilch Jacek,Rosser Elizabeth,Shannon Nora,Stolte-Dijkstra Irene,Van Dijck Patrick,Vilain Catheline,Vogels Annick,Wakeling Emma,Wieczorek Dagmar,Wilson Louise,Zuffardi Orsetta,van Kampen Antoine H C,Devriendt Koenraad,Hennekam Raoul,Vermeesch Joris Robert

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.1105.pdf

Reference25 articles.

1. Nicolaides, P. & Baraitser, M. An unusual syndrome with mental retardation and sparse hair. Clin. Dysmorphol. 2, 232–236 (1993).

2. Sousa, S.B. et al. Nicolaides-Baraitser syndrome: delineation of the phenotype. Am. J. Med. Genet. A. 149A, 1628–1640 (2009).

3. Flaus, A., Martin, D.M., Barton, G.J. & Owen-Hughes, T. Identification of multiple distinct Snf2 subfamilies with conserved structural motifs. Nucleic Acids Res. 34, 2887–2905 (2006).

4. Hargreaves, D.C. & Crabtree, G.R. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res. 21, 396–420 (2011).

5. Liu, G. et al. Two novel BRM insertion promoter sequence variants are associated with loss of BRM expression and lung cancer risk. Oncogene 30, 3295–3304 (2011).

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