Literature DB >> 20358624

A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin.

Ozdem Erturk, Kaya Bilguvar, Baris Korkmaz, Yasar Bayri, Fatih Bayrakli, Zulfikar Arlier, Ali K Ozturk, Cengiz Yalcinkaya, Beyhan Tuysuz, Matthew W State, Murat Gunel.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20358624     DOI： 10.1002/ajmg.a.33312

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  3 in total

1.  An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.

Authors:  Ren-Hua Chung; Deqiong Ma; Kai Wang; Dale J Hedges; James M Jaworski; John R Gilbert; Michael L Cuccaro; Harry H Wright; Ruth K Abramson; Ioanna Konidari; Patrice L Whitehead; Gerard D Schellenberg; Hakon Hakonarson; Jonathan L Haines; Margaret A Pericak-Vance; Eden R Martin
Journal:  Mol Autism       Date:  2011-11-04       Impact factor: 7.509

2.  A discovery resource of rare copy number variations in individuals with autism spectrum disorder.

Authors:  Aparna Prasad; Daniele Merico; Bhooma Thiruvahindrapuram; John Wei; Anath C Lionel; Daisuke Sato; Jessica Rickaby; Chao Lu; Peter Szatmari; Wendy Roberts; Bridget A Fernandez; Christian R Marshall; Eli Hatchwell; Peggy S Eis; Stephen W Scherer
Journal:  G3 (Bethesda)       Date:  2012-12-01       Impact factor: 3.154

3.  Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy.

Authors:  Rubén Miranda; Flora Nagapin; Bruno Bozon; Serge Laroche; Thierry Aubin; Cyrille Vaillend
Journal:  Mol Autism       Date:  2015-10-29       Impact factor: 7.509
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.