Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction-Reference-Cited by-同舟云学术

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Published:2011-09-21 Issue:3 Volume:20 Page:271-276
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Braunholz Diana,Hullings Melanie,Gil-Rodríguez María Concepcion,Fincher Christopher T,Mallozzi Mark B,Loy Elizabeth,Albrecht Melanie,Kaur Maninder,Limon Janusz,Rampuria Abhinav,Clark Dinah,Kline Antonie,Dalski Andreas,Eckhold Juliane,Tzschach Andreas,Hennekam Raoul,Gillessen-Kaesbach Gabriele,Wierzba Jolanta,Krantz Ian D,Deardorff Matthew A,Kaiser Frank J

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011175.pdf

Reference49 articles.

1. Kline AD, Krantz ID, Sommer A et al: Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007; 143: 1287–1296.

2. Ireland M : Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis. Curr Paediatr 1996; 6: 69–73.

3. Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG : Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1053–1058.

4. Bhuiyan Z, Klein M, Hammond P et al: Genotype-Phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Genet 2005; 43: 568–575.

5. Gillis LA, McCallum J, Kaur M et al: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004; 75: 610–623.

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