Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment-Reference-Cited by-同舟云学术

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Published:2010-08-25 Issue:1 Volume:19 Page:102-107
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Brunetti-Pierri Nicola,Paciorkowski Alex R,Ciccone Roberto,Mina Erika Della,Bonaglia Maria Clara,Borgatti Renato,Schaaf Christian P,Sutton V Reid,Xia Zhilian,Jelluma Naftha,Ruivenkamp Claudia,Bertrand Mary,de Ravel Thomy J L,Jayakar Parul,Belli Serena,Rocchetti Katia,Pantaleoni Chiara,D'Arrigo Stefano,Hughes Jeff,Cheung Sau Wai,Zuffardi Orsetta,Stankiewicz Pawel

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010142.pdf

Reference27 articles.

1. Ariani F, Hayek G, Rondinella D et al: FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89–93.

2. Mencarelli M, Spanhol-Rosseto A, Artuso R et al: Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 2009; 47: 49–53.

3. Papa FT, Mencarelli MA, Caselli R et al: A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet A 2008; 146A: 1994–1998.

4. Bisgaard AM, Kirchhoff M, Tumer Z et al: Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A 2006; 140: 2180–2187.

5. Shoichet SA, Kunde SA, Viertel P et al: Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 2005; 117: 536–544.

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