Connexin-26 mutations in deafness and skin disease

Targeted connexin26 ablation arrests postnatal development of the organ of Corti

(2009) Yunfeng Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India

(2009) Anu Yamuna Joseph et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Personal reflections on the multichannel cochlear implant and a view of the future

(2009) Graeme M. Clark   JOURNAL OF REHABILITATION RESEARCH AND DEVELOPMENT

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

(2009) Pu Dai et al.   Journal of Translational Medicine

Structure of the connexin 26 gap junction channel at 3.5 Å resolution

(2009) Shoji Maeda et al.   NATURE

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

(2008) Sandra Iossa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

(2008) Eugene A. de Zwart-Storm et al.   AMERICAN JOURNAL OF PATHOLOGY

Connexin26 deafness associated mutations show altered permeability to large cationic molecules

(2008) Gülistan Meşe et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Correlation between GJB2 mutations and audiological deficits: personal experience

(2008) Pasqualina M. Picciotti et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

(2008) Ram Shankar Mani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

(2008) Pio D'Adamo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

(2008) Nele Hilgert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cochlear molecules and hereditary deafness

(2008) Denise Yan   Frontiers in Bioscience-Landmark

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss

(2008) T.D. Matos et al.   HEARING RESEARCH

Genetics of congenital hearing impairment: A clinical approach

(2008) Lisbeth Tranebjærg   INTERNATIONAL JOURNAL OF AUDIOLOGY

Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation

(2008) Sharon L. Cushing et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes

(2008) Jack R. Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss

(2008) G Khandelwal et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

Deafness in the developing world: the place of cochlear implantation

(2008) M B Tarabichi et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

Phenotype/Genotype Correlations in a DFNB1 Cohort With Ethnical Diversity

(2008) Simon I. Angeli   LARYNGOSCOPE

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

(2007) Laurence Jonard et al.   European Journal of Medical Genetics