EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2

(2014) Nicole J. D. Weegerink et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

(2012) Sandra Iossa et al.   CURRENT GENOMICS

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study

(2012) Amanda Hall et al.   BMJ Open

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

(2011) Niloofar Bazazzadegan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal Screening for the 35delG GJB2, Del (GJB6-D13S1830), and Del (GJB6-D13S1854) Mutations in the Romanian Population

(2011) Cristina Dragomir et al.   Genetic Testing and Molecular Biomarkers

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

(2010) Ralf Birkenhäger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GJB2Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

(2010) Mustafa Tekin et al.   ANNALS OF HUMAN GENETICS

Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss

(2010) Margaret A. Kenna et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

GJB2 Mutations and Genotype-Phenotype Correlation in 335 Patients from Germany with Nonsyndromic Sensorineural Hearing Loss: Evidence for Additional Recessive Mutations Not Detected by Current Methods

(2010) O. Bartsch et al.   AUDIOLOGY AND NEURO-OTOLOGY

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

(2010) E.A. de Zwart-Storm et al.   BRITISH JOURNAL OF DERMATOLOGY

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

(2010) E Wilch et al.   CLINICAL GENETICS

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

(2010) G. Padma et al.   JOURNAL OF GENETICS

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2

(2010) Yongyi Yuan et al.   Journal of Translational Medicine

Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

(2009) Fatima Ammar-Khodja et al.   European Journal of Medical Genetics

Connexin-26 mutations in deafness and skin disease

(2009) Jack R. Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Analysis of the GJB2 and GJB6 Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss

(2009) Paola Primignani et al.   Genetic Testing and Molecular Biomarkers

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

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

(2008) Hsiao-Yuan Tang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spectrum ofGJB2mutations causing deafness in the British Bangladeshi population

(2008) Y. Bajaj et al.   CLINICAL OTOLARYNGOLOGY

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

(2008) Delphine Feldmann et al.   European Journal of Medical Genetics