Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature-Reference-Cited by-同舟云学术

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

Published:2010-10-28 Issue:2 Volume:155 Page:372-379
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Behnecke Anne,Hinderhofer Katrin,Bartsch Oliver,Nümann Astrid,Ipach Marie-Luise,Damatova Natalja,Haaf Thomas,Dufke Andreas,Riess Olaf,Moog Ute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33656/fullpdf

Reference28 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with neuronal calcium sensor-1 and regulates exocytosis;Bahi;Hum Mol Genet,2003

3. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism;Bhat;Clin Genet,2008

4. Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation;Billuart;Hum Mol Genet,1996

5. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation;Carrie;Nat Genet,1999

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