Genetic investigations in childhood deafness (Q38260998)

1 September 2017

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title

Genetic investigations in childhood deafness (English)

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1 September 2017

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Maria Bitner-Glindzicz

series ordinal

object named as

Maria Bitner-Glindzicz

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1 September 2017

Michael Parker

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1 September 2017

language of work or name

English

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publication date

16 October 2014

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Archives of Disease in Childhood

1 September 2017

published in

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1 September 2017

volume

100

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1 September 2017

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1 September 2017

page(s)

271-278

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Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study

1 September 2017

cites work

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https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

The impact of early identification of permanent childhood hearing impairment on speech and language outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Is computed tomography (CT) or magnetic resonance imaging (MRI) more useful in the evaluation of pediatric sensorineural hearing loss?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Evaluation of unilateral sensorineural hearing loss in the pediatric patient

21 January 2018

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https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Late postnatal onset of hearing loss due to GJB2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

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/10.1136%2FARCHDISCHILD-2014-306099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

The Pendred syndrome gene encodes a chloride-iodide transport protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Neuro-otological findings in Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Auditory neuropathy spectrum disorder: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Advancing genetic testing for deafness with genomic technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

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/10.1136%2FARCHDISCHILD-2014-306099

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Further characterization of the DFNA1 audiovestibular phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

21 January 2018

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https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Genetic basis of Y-linked hearing impairment

21 January 2018

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https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Using the phenome and genome to improve genetic diagnosis for deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2014-306099

10.1136/ARCHDISCHILD-2014-306099

21 January 2018

Identifiers

DOI

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1 September 2017

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