(Q36481115)

14 August 2017

title

Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis (English)

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sensorineural hearing loss

14 August 2017

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1 reference

Iris Schrijver

1

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14 August 2017

Phyllis Gardner

series ordinal

2

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14 August 2017

publication date

1 May 2006

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

14 August 2017

published in

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14 August 2017

volume

6

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14 August 2017

issue

3

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14 August 2017

page(s)

375-386

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Universal infant hearing screening by automated auditory brainstem response measurement

14 August 2017

cites work

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21 January 2018

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Deafness genes and their diagnostic applications

21 January 2018

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21 January 2018

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Nonsyndromic hearing loss.

21 January 2018

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Mouse models for deafness: lessons for the human inner ear and hearing loss

21 January 2018

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A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

21 January 2018

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

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

21 January 2018

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

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

21 January 2018

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GJB2: the spectrum of deafness-causing allele variants and their phenotype.

21 January 2018

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A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

21 January 2018

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Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

21 January 2018

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The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects

21 January 2018

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Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

21 January 2018

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Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

21 January 2018

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Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

21 January 2018

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GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

21 January 2018

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Connexins, connexons, and intercellular communication

21 January 2018

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Using genetics to understand auditory function and improve diagnosis

21 January 2018

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Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions

21 January 2018

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Connexin-30 deletion analysis in connexin-26 heterozygotes.

21 January 2018

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

21 January 2018

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Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

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A novel connexin 30 mutation in Clouston syndrome

21 January 2018

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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

21 January 2018

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.375

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

21 January 2018

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21 January 2018

Mitochondrial deafness

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

A review of cochlear implantation in mitochondrial sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mitochondrial defects and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

21 January 2018

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Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Associa

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Universal newborn hearing screening: fine-tuning the process

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Language of early- and later-identified children with hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Visual impairment in severe and profound sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Sensorineural hearing loss in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

The effect of GJB2 allele variants on performance after cochlear implantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

High carrier frequency of the 35delG deafness mutation in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Early hearing detection and intervention programs: opportunities for genetic services

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Gene discovery in the auditory system using a tissue specific approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Genetic factors in aminoglycoside toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.375

21 January 2018

Identifiers

DOI

10.1586/14737159.6.3.375

1 reference

14 August 2017

1 reference