GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review - Wikidata - wikimedia - TriplyDB

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

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

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Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing 3p-- syndrome defines a hearing loss locus in 3p25.3 First molecular screening of deafness in the Altai Republic population.Molecular epidemiology of DFNB1 deafness in France C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands Gap junctions and cochlear homeostasis Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss Rare variants create synthetic genome-wide associations Genetics: A New Frontier in Otology.ACEMg Diet Supplement Modifies Progression of Hereditary Deafness.Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss.Hearing loss: a common disorder caused by many rare alleles.Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement Modifiers of hearing impairment in humans and mice.A genotype-phenotype correlation for GJB2 (connexin 26) deafness.Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound Two tyrosine-based sorting signals in the Cx43 C-terminus cooperate to mediate gap junction endocytosis.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child.Pathogenetic role of the deafness-related M34T mutation of Cx26.Examining the relationship between genetic counselors' attitudes toward deaf people and the genetic counseling session Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Interpretation of association signals and identification of causal variants from genome-wide association studies Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.GJB2 mutations and degree of hearing loss: a multicenter study.The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations.Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity Temporal bone abnormalities in children with GJB2 mutations Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.Detection of mutations in genes associated with hearing loss using a microarray-based approach.

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

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

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

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

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

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

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

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

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

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

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Genetics in Medicine

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

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Aileen Kenneson

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Coleen Boyle

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

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

Rapid detection of Campylobacter fetus by polymerase chain reaction combined with non-radioactive hybridization using an oligonucleotide covalently bound to microwells.

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

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

Parental attitudes toward genetic testing for pediatric deafness.

Mitochondrial defects and hearing loss.

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