Concepedia

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Lisa M. Astuto, Julie M. Bork, Michael D. Weston, James W. Askew, Randall R. Fields, Dana J. Orten, S.J. Ohliger, Saima Riazuddin, Robert J. Morell, Shahid Y. Khan,

The American Journal of Human Genetics · 2002 · 235 citations · 20 references

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20

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

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Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Julie M. Bork, Linda Peters, Saima Riazuddin et al. · The American Journal of Human Genetics · 2001 · 557 citations · Full text

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Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

Philip M. Kelley, David J. Harris, B.C. Comer et al. · The American Journal of Human Genetics · 1998 · 506 citations · Full text

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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez et al. · Nature Genetics · 2001 · 497 citations

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

Xue-Zhong Liu, James Walsh, Philomena Mburu et al. · Nature Genetics · 1997 · 472 citations

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