Literature DB >> 15389700

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome.

Frank J Probst, Peter Hedera, Anthony M Sclafani, Maria Grazia Pomponi, Giovanni Neri, Jessica Tyson, Julie A Douglas, Elizabeth M Petty, Donna M Martin.   

Abstract

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Year:  2004        PMID： 15389700     DOI： 10.1002/ajmg.a.30308

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


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  3 in total

1.  Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.

Authors:  James Lee; Stacey Wong; Richard G Boles
Journal:  Eur J Pediatr       Date:  2014-05-27       Impact factor: 3.183

2.  Upregulation of imprinted genes in mice: an insight into the intensity of gene expression and the evolution of genomic imprinting.

Authors:  Ismail Zaitoun; Karen M Downs; Guilherme J M Rosa; Hasan Khatib
Journal:  Epigenetics       Date:  2010-03-01       Impact factor: 4.528

3.  Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

Authors:  Jirair Krikor Bedoyan; Valerie M Schaibley; Weiping Peng; Yongsheng Bai; Kajari Mondal; Amol C Shetty; Mark Durham; Joseph A Micucci; Arti Dhiraaj; Jennifer M Skidmore; Julie B Kaplan; Cindy Skinner; Charles E Schwartz; Anthony Antonellis; Michael E Zwick; James D Cavalcoli; Jun Z Li; Donna M Martin
Journal:  J Med Genet       Date:  2012-05       Impact factor: 6.318
  3 in total

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