Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. - Wikidata - wikimedia - TriplyDB

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

http://www.wikidata.org/entity/Q30486353

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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.Genetic characteristics of the couple with non-syndromic sensorineural hearing loss and fertility guidance.A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice.Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression.Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin.Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct Mouse models for pendrin-associated loss of cochlear and vestibular function Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.The role of pendrin in the development of the murine inner ear.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.Deafness gene mutations in newborns in Beijing.Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.

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P2860

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

http://www.wikidata.org/entity/Q30486353

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2009 nî lūn-bûn

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2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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Comprehensive molecular etiolo ...... t from typical areas in China.

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Deliang Huang

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Dongyang Kang

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Dongyi Han

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Fei Yu

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Huijun Yuan

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Jinghong Cui

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Pu Dai

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Qiang Wang

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Yiwen You

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Yong Wang

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.

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10.1186/1479-5876-7-79

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