Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation (Q34123564)

31 July 2017

title

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation (English)

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31 July 2017

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Jiann-Jou Yang

1

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31 July 2017

Wen-Hung Wang

2

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31 July 2017

Yen-Chun Lin

3

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31 July 2017

Hsu-Huei Weng

4

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31 July 2017

Jen-Tsung Yang

5

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31 July 2017

Chung-Feng Hwang

6

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31 July 2017

Che-Min Wu

7

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31 July 2017

Shuan-Yow Li

8

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31 July 2017

publication date

1 July 2010

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31 July 2017

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31 July 2017

volume

128

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31 July 2017

issue

3

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31 July 2017

page(s)

303-313

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Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

31 July 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007/S00439-010-0856-X

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population

21 January 2018

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https://api.crossref.org/works/10.1007/S00439-010-0856-X

Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment.

21 January 2018

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High-throughput screening for GJB2 mutations--its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

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12 December 2020

Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method

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12 December 2020

Gap junction systems in the mammalian cochlea

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12 December 2020

Expression of connexin 31 in the developing mouse cochlea

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12 December 2020

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

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12 December 2020

Genetic epidemiology of hearing impairment

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12 December 2020

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

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12 December 2020

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

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12 December 2020

GJB2 mutations and degree of hearing loss: a multicenter study

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12 December 2020

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene

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12 December 2020

Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation fa

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12 December 2020

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

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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.

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12 December 2020

Connexin26 mutations associated with nonsyndromic hearing loss

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12 December 2020

Gap junctions and cochlear homeostasis

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12 December 2020

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

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12 December 2020

Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families

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12 December 2020

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

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12 December 2020

Gap junctions: structure and function (Review).

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12 December 2020

Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.

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12 December 2020

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

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12 December 2020

Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes

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12 December 2020

Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

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12 December 2020

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

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GJB2 (connexin 26) mutations and childhood deafness in Thailand

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

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Connexin 26 mutations in autosomal recessive deafness disorders: a review

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The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

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ConSeq: the identification of functionally and structurally important residues in protein sequences

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

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12 December 2020

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

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12 December 2020

Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment

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12 December 2020

A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss

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12 December 2020

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

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12 December 2020

Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea.

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12 December 2020

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population

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12 December 2020

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

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12 December 2020

Emerging issues of connexin channels: biophysics fills the gap.

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12 December 2020

Connexin mutations in X-linked Charcot-Marie-Tooth disease

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12 December 2020

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

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12 December 2020

Evidence for a medial K recycling pathway from inner hair cells

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12 December 2020

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

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12 December 2020

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

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12 December 2020

The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population

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12 December 2020

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

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12 December 2020

Audiological features of GJB2 (connexin 26) deafness

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12 December 2020

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss

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12 December 2020

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

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12 December 2020

Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation

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12 December 2020

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings

1 reference

12 December 2020

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

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12 December 2020

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

1 reference

12 December 2020

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

1 reference

12 December 2020

Deafness genes in Israel: implications for diagnostics in the clinic

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12 December 2020

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

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12 December 2020

10.1007/S00439-010-0856-X

Identifiers

DOI

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Dimensions Publication ID

31 July 2017

1021088177

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