GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.
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Genetics of hearing loss in Africans: use of next generation sequencing is the best way forwardCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyGJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing LossLong-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 MutationsSpectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Hypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2) DeficiencySound-Induced Intracellular Ca2+ Dynamics in the Adult Hearing CochleaBioinformatic Analysis of GJB2 Gene Missense Mutations.Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss.In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genesExomic variants of an elderly cohort of Brazilians in the ABraOM database.Cx26 knockout predisposes the mammary gland to primary mammary tumors in a DMBA-induced mouse model of breast cancerConnexins: sensors of epidermal integrity that are therapeutic targets.Mechanisms linking connexin mutations to human diseases.A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.Etiologic and Audiologic Characteristics of Patients With Pediatric-Onset Unilateral and Asymmetric Sensorineural Hearing Loss.Progressive age-dependence and frequency difference in the effect of gap junctions on active cochlear amplification and hearing.Newborn genetic screening for hearing impairment: a population-based longitudinal study.Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.Diagnosis and Management of Congenital Sensorineural Hearing Loss.c.464A>G variation in the GJB2 gene is detected in a Han Chinese family.Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa.Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.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.Connexins in Cardiovascular and Neurovascular Health and Disease: Pharmacological Implications.Developmental abnormalities in supporting cell phalangeal processes and cytoskeleton in the GJB2 knockdown mouse model.Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.Knockout of Pannexin-1 Induces Hearing Loss.Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.Auditory disorders and future therapies with delivery systemsUpdated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in SiberiaEvidence for Central Asian Origin of the p.Val27Ile Variant in theGJB2Gene
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P2860
GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
GJB2-associated hearing loss: ...... otype, and auditory phenotype.
@en
type
label
GJB2-associated hearing loss: ...... otype, and auditory phenotype.
@en
prefLabel
GJB2-associated hearing loss: ...... otype, and auditory phenotype.
@en
P2860
P356
P1433
P1476
GJB2-associated hearing loss: ...... otype, and auditory phenotype.
@en
P2093
Dylan K Chan
P2860
P304
P356
10.1002/LARY.24332
P407
P50
P577
2013-10-08T00:00:00Z