Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1997 • 1,435 citations

Connections with Connexins: the Molecular Basis of Direct Intercellular Signaling

1996 • 1,301 citations

CONNEXINS, CONNEXONS, AND INTERCELLULAR COMMUNICATION

1996 • 1,180 citations

Genetic Epidemiology of Hearing Impairment

1991 • 941 citations

Recommendations for a nomenclature system for human gene mutations

1998 • 936 citations

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1998 • 645 citations

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

1997 • 635 citations

Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1997 • 613 citations

Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

1998 • 543 citations

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

1998 • 506 citations

Carrier Rates in the Midwestern United States for <EMPH TYPE="ITAL">GJB2</EMPH> Mutations Causing Inherited Deafness

1999 • 368 citations

A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

1994 • 281 citations

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

1998 • 249 citations

Changes in Permeability Caused by Connexin 32 Mutations Underlie X-Linked Charcot-Marie-Tooth Disease

1997 • 243 citations

Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1)

1999 • 202 citations

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

2000 • 201 citations

Hereditary hearing loss and its syndromes

1996 • 181 citations

The Causes of Profound Deafness in Childhood

1970 • 159 citations

The causes of profound deafness in childhood

1977 • 151 citations

Properties of Connexin26 Gap Junctional Proteins Derived from Mutations Associated With Non-Syndromal Heriditary Deafness

1999 • 129 citations

Intracellular Trafficking Pathways in the Assembly of Connexins into Gap Junctions

1999 • 121 citations

A NOTE ON DEAF MUTISM

1959 • 115 citations

HEREDITARY DEAF MUTISM, WITH PARTICULAR REFERENCE TO NORTHERN IRELAND

1956 • 108 citations

Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics

1998 • 85 citations

Gap Junctions and Connexin Expression in the Inner Ear

2007 • 76 citations

Prevalence and genetic aspects of deaf mutism in Shanghai.

1987 • 21 citations