Molecular diagnosis of hearing loss (Q50431893)

13 March 2018

title

Molecular diagnosis of hearing loss (English)

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13 March 2018

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13 March 2018

author name string

Kerry K Brown

series ordinal

1

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13 March 2018

publication date

1 January 2012

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13 March 2018

Current protocols in human genetics / editorial board, Nicholas C, Dracapoli ... [et al.]

published in

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13 March 2018

volume

Chapter 9

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13 March 2018

page(s)

Unit 9.16

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13 March 2018

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

cites work

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Genotype-phenotype correlations for SLC26A4-related deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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/10.1002%2F0471142905.HG0916S72

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

21 January 2018

Mitochondrial deafness

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Molecular genetics applied to clinical practice: the Cx26 hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Nongenetic causes of hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0916S72

10.1002/0471142905.HG0916S72

21 January 2018

Identifiers

DOI

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13 March 2018

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13 March 2018