A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q44380931

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Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.Early detection of hearing loss High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.A Mayan founder mutation is a common cause of deafness in Guatemala.Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.Impact of gene patents and licensing practices on access to genetic testing for hearing loss.Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.Genetics of congenital hearing impairment: a clinical approach.A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.Inherited hearing loss: molecular genetics and diagnostic testing.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T).High-frequency sensorineural hearing loss in children.A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort.Infant hearing loss and connexin testing in a diverse population.Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.Molecular diagnosis of hearing loss.Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.

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

http://www.wikidata.org/entity/Q44380931

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2007 nî lūn-bûn

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A multicenter study of the fre ...... a large North American cohort.

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Bai-Lin Wu

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Bassem A Bejjani

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Elaine B Spector

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Fred Schaefer

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Girish V Putcha

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Iris M Otani

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Iris Schrijver

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Ishrag Khababa

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Jessica K Booker

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John C Carey

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P2860

Molecular epidemiology of DFNB1 deafness in France

Connexin-26 mutations in sporadic and inherited sensorineural deafness

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

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

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

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