Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome-Reference-Cited by-同舟云学术

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Published:2009-03 Issue:2-3 Volume:52 Page:94-100
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Van der Aa Nathalie,Rooms Liesbeth,Vandeweyer Geert,van den Ende Jenneke,Reyniers Edwin,Fichera Marco,Romano Corrado,Delle Chiaie Barbara,Mortier Geert,Menten Björn,Destrée Anne,Maystadt Isabelle,Männik Katrin,Kurg Ants,Reimand Tiia,McMullan Dom,Oley Christine,Brueton Louise,Bongers Ernie M.H.F.,van Bon Bregje W.M.,Pfund Rolph,Jacquemont Sebastien,Ferrarini Alessandra,Martinet Danielle,Schrander-Stumpel Connie,Stegmann Alexander P.A.,Frints Suzanna G.M.,de Vries Bert B.A.,Ceulemans Berten,Kooy R. Frank

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference23 articles.

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2. Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS);D'Hulst;Brain Res,2009

3. Autism, language delay and mental retardation in a patient with 7q11 duplication;Depienne;J. Med. Genet.,2007

4. Williams syndrome: from genotype through to the cognitive phenotype;Donnai;Am. J. Med. Genet.,2000

5. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation;Froyen;Am. J. Hum. Genet.,2008

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