Condition: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)


rs104894395 in GJB2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 22695344 2012 The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

PMID 12792423 2003 Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.

PMID 19707039 2009 High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients.

PMID 15146474 2004 GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

PMID 15113126 2003 High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).

PMID 11968091 2002 GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.

PMID 15967879 2005 GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

PMID 18294064 2007 Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.

PMID 12833397 2003 Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.

PMID 18941476 2009 Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

PMID 16088916 2005 High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.

PMID 16380907 2005 GJB2 mutations and degree of hearing loss: a multicenter study.

PMID 14985372 2004 A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

PMID 9139825 1997 Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

PMID 15070423 2004 Molecular epidemiology of DFNB1 deafness in France.

PMID 12746422 2003 Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

PMID 19371219 2009 Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

PMID 25636251 2015 Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.

PMID 9328482 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

PMID 22785241 2012 Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.

PMID 10556284 1999 Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.

PMID 10807696 2000 A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

PMID 11313763 2001 Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

PMID 19384972 2009 Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.

PMID 12786758 2003 A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.

PMID 12505163 2003 Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

PMID 11439000 2001 Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

PMID 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

PMID 9620796 1998 Connexin 26 gene linked to a dominant deafness.

PMID 10982180 2000 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

PMID 22429511 2012 Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

PMID 20236118 2010 A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

PMID 12497637 2003 Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

PMID 9336442 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

PMID 12325027 2002 Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

PMID 17041943 2006 DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

PMID 9529365 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

PMID 21465647 2011 Vestibular dysfunction in DFNB1 deafness.

PMID 11556849 2001 Connexin 26 studies in patients with sensorineural hearing loss.

PMID 19366456 2009 GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

PMID 12172392 2002 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

PMID 15964725 2005 Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

PMID 21962949 2011 Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families.

PMID 15365987 2004 GJB2: the spectrum of deafness-causing allele variants and their phenotype.

PMID 12239718 2002 Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

PMID 19715472 2009 Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

PMID 20096356 2010 Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

PMID 23856378 2013 Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

PMID 12189487 2002 Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

PMID 16931589 2006 Detection of mutations in genes associated with hearing loss using a microarray-based approach.

PMID 11438992 2001 Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

PMID 22991996 2013 Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.

PMID 21040787 2011 Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

PMID 17485979 2007 High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.

PMID 17567887 2007 Molecular genetics study of deafness in Brazil: 8-year experience.

PMID 24372583 2015 Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.

PMID 26397989 2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.

PMID 10376574 1999 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

PMID 18758381 2008 Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.

PMID 25288386 2014 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.

PMID 20154630 2010 Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.

PMID 26252218 2015 Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

PMID 15592461 2005 Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.

PMID 23555729 2013 Etiology and audiological outcomes at 3 years for 364 children in Australia.

PMID 18472371 2008 A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.

PMID 23668481 2013 Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

PMID 24013081 2013 GJB2-associated hearing loss undetected by hearing screening of newborns.

PMID 12562518 2003 Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.

PMID 20441744 2010 Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.

PMID 16849369 2006 Pathogenetic role of the deafness-related M34T mutation of Cx26.

PMID 22925408 2012 Unique spectrum of GJB2 mutations in Mexico.

PMID 24158611 2013 Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.

PMID 16217030 2005 Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.

PMID 17426645 2007 GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.

PMID 17660464 2007 A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

PMID 10049954 1999 Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

PMID 26346709 2016 A Mayan founder mutation is a common cause of deafness in Guatemala.

PMID 26778469 2016 Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.

PMID 26188157 2015 Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.

PMID 24774219 2014 Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.

PMID 21287563 2011 Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.

PMID 21131880 2011 Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.

PMID 11102979 2000 Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

PMID 25401782 2014 New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

PMID 24256046 2014 Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

PMID 12172394 2002 Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

PMID 11493200 2001 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

PMID 11584050 2001 Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

PMID 15617550 2005 Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

PMID 20863150 2011 Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.

PMID 15666300 2005 GJB2 mutations: passage through Iran.

PMID 19157576 2009 High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India.

PMID 17935238 2007 M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

PMID 25085072 2014 Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.

PMID 25388846 2015 Bioinformatic Analysis of GJB2 Gene Missense Mutations.

PMID 22613756 2012 Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.

PMID 16712961 2006 Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

PMID 10983956 2000 Connexin26 mutations associated with nonsyndromic hearing loss.

PMID 20095872 2010 Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum.

PMID 10633133 2000 Prevalent connexin 26 gene (GJB2) mutations in Japanese.

PMID 19775242 2009 Post-translational modifications of connexin26 revealed by mass spectrometry.

PMID 12865758 2004 Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

PMID 16950989 2006 Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

PMID 12925341 2003 Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.

PMID 16154643 2006 GJB2 mutations and additional disabilities in a pediatric cochlear implant population.

PMID 17431919 2007 Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.

PMID 15253766 2004 Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

PMID 10218527 1999 Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

PMID 26896187 2016 The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

PMID 22567152 2012 Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.

PMID 12112666 2002 Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.

PMID 23695287 2013 EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

PMID 9710598 1998 Initiation of protein synthesis in mammalian cells with codons other than AUG and amino acids other than methionine.

PMID 12910486 2003 Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

PMID 9482292 1998 Connexin-26 mutations in sporadic and inherited sensorineural deafness.

PMID 18983339 2008 Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.

PMID 20146813 2010 High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

PMID 15488970 2004 Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.

PMID 12189493 2002 Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

PMID 16532460 2006 Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

PMID 18684989 2008 Connexin26 deafness associated mutations show altered permeability to large cationic molecules.

PMID 22796187 2013 The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.

PMID 23967136 2013 Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

PMID 26444186 2016 Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

PMID 19235794 2009 Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 10751669 2000 Connexin 26: required for normal auditory function.

PMID 12408072 2002 Clinical presentation of DFNB1.

PMID 16222667 2005 Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.

PMID 18776652 2008 GJB2 mutations in Baluchi population.

PMID 18837651 2009 Gap-junction channels dysfunction in deafness and hearing loss.

PMID 22787277 2012 Critical role of the first transmembrane domain of Cx26 in regulating oligomerization and function.

PMID 12081719 2002 Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.

PMID 18580690 2008 Infant hearing loss and connexin testing in a diverse population.

PMID 27247933 2016 Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

PMID 26763877 2016 An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

PMID 27534436 2016 Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.

PMID 12560944 2003 GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

PMID 23266159 2013 Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

PMID 26749107 2016 The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.

PMID 11216656 2000 The M34T allele variant of connexin 26.

PMID 14694360 2004 Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

PMID 14681040 2004 Cellular mechanisms of mutant connexins in skin disease and hearing loss.

PMID 20553101 2010 Causes of hearing impairment in the Norwegian paediatric cochlear implant program.

PMID 17146393 2006 Temporal bone imaging in GJB2 deafness.

PMID 21094084 2011 Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.

PMID 21912263 2011 Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.

PMID 25012701 2015 GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.

PMID 24224790 2014 Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.

PMID 26043044 2015 GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

PMID 25625422 2015 Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.

PMID 19929407 2010 Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.

PMID 21777984 2011 GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.

PMID 12176036 2002 Hearing loss: frequency and functional studies of the most common connexin26 alleles.

PMID 11134236 2001 Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

PMID 12384501 2003 Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

PMID 10903123 2000 Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

PMID 20708129 2010 Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

PMID 15033936 2004 Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 26482070 2015 Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.

PMID 26117665 2015 The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.

PMID 23826813 2013 Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

PMID 16300957 2006 Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

PMID 9716127 1998 Connexin mutations in deafness.

PMID 22668073 2012 Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

PMID 19390476 2009 Deafness genes in Israel: implications for diagnostics in the clinic.

PMID 25270357 2015 Predictive factors and outcomes of cochlear implantation in patients with connexin 26 mutation: a comparative study.

PMID 12885339 2003 Connexin-30 deletion analysis in connexin-26 heterozygotes.

PMID 20083784 2010 Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

PMID 26553399 2015 Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.

PMID 21112098 2011 Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.

PMID 20381175 2010 GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.

PMID 21094651 2011 Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.

PMID 20497192 2010 A large cohort study of GJB2 mutations in Japanese hearing loss patients.

PMID 22592158 2012 Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.

PMID 11494963 2001 Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 9600457 1998 Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

PMID 27169813 2016 Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

PMID 25788563 2015 Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

PMID 24507663 2014 Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss.

PMID 19125024 2009 Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

PMID 21366436 2011 GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.

PMID 25189242 2014 Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

PMID 12121355 2002 Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

PMID 15954104 2005 Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

PMID 17331080 2007 The fate of 12 recessive mutations in a single village.

PMID 27623246 2016 Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.

PMID 17036313 2006 V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

PMID 26088551 2015 Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.

PMID 21811586 2011 Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

PMID 23873582 2013 Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.

PMID 16840571 2006 The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.

PMID 26061099 2015 The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.

PMID 15700112 2005 Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

PMID 15479191 2004 High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

PMID 15464305 2004 Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.

PMID 10830906 2000 High frequency hearing loss correlated with mutations in the GJB2 gene.

PMID 17146396 2006 A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels.

PMID 21292415 2011 The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients.

PMID 10501520 1999 Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

PMID 17428836 2007 Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.

PMID 21738759 2011 Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).

PMID 23039283 2012 GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.

PMID 23141775 2013 A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

PMID 25266519 2014 Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.

PMID 24529908 2014 Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

PMID 20234132 2010 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.

PMID 15656949 2005 Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

PMID 16864573 2006 The structural context of disease-causing mutations in gap junctions.

PMID 14676473 2004 A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.

PMID 20022641 2010 Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

PMID 19027181 2009 Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.

PMID 26061264 2015 Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

PMID 25891447 2015 The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.

PMID 24737404 2014 Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

PMID 23638949 2013 Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

PMID 24551843 2014 A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment.

PMID 20650534 2010 DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.

PMID 23680645 2013 Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

PMID 24949729 2014 Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

PMID 19567088 2009 [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients].

PMID 22567861 2012 [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].

PMID 11313751 2001 On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe.

PMID 10544226 1999 Cx26 deafness: mutation analysis and clinical variability.

PMID 10713883 2000 High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

PMID 23120683 2010 Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India.

PMID 20639189 2010 A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

PMID 18519481 2008 Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates.

PMID 24503448 2014 Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

PMID 23418865 2013 Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.

PMID 19925344 2009 Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.

PMID 20815033 2010 R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.

PMID 22384008 2012 Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

PMID 20073550 2010 Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

PMID 20739944 2010 Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.

PMID 9285800 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

PMID 9819448 1998 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.

PMID 21776002 2011 Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.

PMID 17406097 2006 The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.

PMID 21122151 2010 Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

PMID 26096904 2015 Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.

PMID 11935342 2002 Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

PMID 26236732 2015 Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies.

PMID 12352684 2002 Functional study of GJB2 in hereditary hearing loss.

PMID 24793888 2014 Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.

PMID 24078562 2013 [Genetic analysis and prenatal diagnosis for non-syndromic hearing impairment].

PMID 12673800 2003 Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

PMID 15241677 2004 Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

PMID 26095810 2015 Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.

PMID 9471561 1998 Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.

PMID 26381000 2015 The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region.

PMID 18560174 2008 GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

PMID 21198395 2011 Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.

PMID 12176179 2002 Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

PMID 25708704 2015 A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.

rs104894415 in GJB6 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

PMID 24685692 2014 The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

PMID 27137747 2016 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

PMID 24522190 2014 Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.

PMID 14708603 2003 Clouston syndrome can mimic pachyonychia congenita.

PMID 23863883 2013 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.