Home LiteratureArticle Details

PMID: 21697857 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Clinical utility gene card for: Usher syndrome.

European journal of human genetics : EJHG ·Vol. 19 ·No. 8 ·2011-08-00

Bolz HJ, Roux AF

Abstract

暂无摘要

MeSH Terms

Humans Molecular Diagnostic Techniques Mutation Usher Syndromes/diagnosis,ethnology,genetics,physiopathology

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Bolz Hanno J

Bioscientia Center for Human Genetics, Ingelheim, Germany. [email protected]

Roux Anne-Françoise

References (9)

9 references, click to expand

A genetic analysis of retinitis pigmentosa.
Br J Ophthalmol. 1983 Jul;67(7):449-54 PMID: 6860611
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.
Am J Hum Genet. 1999 Jul;65(1):261-5 PMID: 10364543
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
Nat Neurosci. 2011 Jan;14(1):77-84 PMID: 21131953
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet Med. 2010 Aug;12(8):512-6 PMID: 20613545
Update on Usher syndrome.
Curr Opin Neurol. 2009 Feb;22(1):19-27 PMID: 19165952
PTC124 targets genetic disorders caused by nonsense mutations.
Nature. 2007 May 3;447(7140):87-91 PMID: 17450125
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
J Clin Invest. 2010 Jun;120(6):1812-23 PMID: 20440071
Development of a genotyping microarray for Usher syndrome.
J Med Genet. 2007 Feb;44(2):153-60 PMID: 16963483
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
Hum Mol Genet. 2005 Jan 1;14(1):103-11 PMID: 15537665

Article Info

Journal

European journal of human genetics : EJHG

Abbr.

Eur J Hum Genet

ISSN

1476-5438

DOI

Published

2011-08-00

Epub

2011-00-09

Language

English

Region

England

NLM ID

9302235

PMCID

PMC3172919

Subset

External Links

Analysis Services