Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism-Reference-Cited by-同舟云学术

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

Published:2008-04-16 Issue:10 Volume:16 Page:1187-1192
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Castermans Dries,Thienpont Bernard,Volders Karolien,Crepel An,Vermeesch Joris R,Schrander-Stumpel Connie T,Van de Ven Wim J M,Steyaert Jean G,Creemers John W M,Devriendt Koen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200871.pdf

Reference27 articles.

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2. Kleinjan DA, van Heyningen V : Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005; 76: 8–32.

3. Castermans D, Vermeesch JR, Fryns JP et al: Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet 2007; 15: 422–431.

4. Sebat J, Lakshmi B, Malhotra D et al: Strong association of de novo copy number mutations with autism. Science 2007; 316: 445–449.

5. Marshall CR, Noor A, Vincent JB et al: Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82: 477–488.

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