Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures-Reference-Cited by-同舟云学术

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Published:2012-06-07 Issue:7 Volume:158A Page:1633-1640
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Thierry Gaelle,Bénéteau Claire,Pichon Olivier,Flori Elisabeth,Isidor Bertrand,Popelard Françoise,Delrue Marie-Ange,Duboscq-Bidot Laetitia,Thuresson Ann-Charlotte,van Bon Bregje W.M.,Cailley Dorothée,Rooryck Caroline,Paubel Agathe,Metay Corinne,Dusser Anne,Pasquier Laurent,Béri Mylène,Bonnet Céline,Jaillard Sylvie,Dubourg Christèle,Tou Bassim,Quéré Marie-Pierre,Soussi-Zander Cecilia,Toutain Annick,Lacombe Didier,Arveiler Benoit,de Vries Bert B.A.,Jonveaux Philippe,David Albert,Le Caignec Cédric

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44;Ballif;Hum Genet,2012

2. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability;Bhalla;Am J Hum Genet,2008

3. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am J Hum Genet,2007

4. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene;Caliebe;Eur J Med Genet,2010

5. Genetics and pathophysiology of mental retardation;Chelly;Eur J Hum Genet,2006

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