The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability-Reference-Cited by-同舟云学术

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Published:2017-11-29 Issue:1 Volume:26 Page:143-148
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mortreux Jérémie^ORCID,Busa Tiffany,Germain Dominique P.,Nadeau Gwenaël,Puechberty Jacques,Coubes Christine,Gatinois Vincent,Cacciagli Pierre,Duffourd Yannis,Pinard Jean-Marc,Tevissen Hélène,Villard Laurent^ORCID,Sanlaville Damien,Philip Nicole,Missirian Chantal

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0018-x.pdf

Reference16 articles.

1. Mochida GH, Mahajnah M, Hill AD, et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet. 2009;85:897–902.

2. Philippe O, Rio M, Carioux A, et al. Combination of linkage mapping and microarray-expression analysis identifies NF-κB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet. 2009;85:903–8.

3. Mir A, Kaufman L, Noor A, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-β-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet. 2009;85:909–15.

4. Najmabadi H, Motazacker MM, Garshasbi M, et al. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2007;121:43–8.

5. Abou Jamra R, Wohlfart S, Zweier M, et al. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet. 2011;19:1161–6.

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