Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings (Q50498794)

14 March 2018

title

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

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14 March 2018

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3

A Middleton

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14 March 2018

R F Mueller

1

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14 March 2018

A Nehammer

2

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14 March 2018

M Houseman

4

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G R Taylor

5

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M Bitner-Glindzciz

6

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14 March 2018

G Van Camp

7

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M Parker

8

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I D Young

9

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A Davis

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V E Newton

11

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N J Lench

12

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14 March 2018

publication date

1 October 1999

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14 March 2018

International Journal of Pediatric Otorhinolaryngology

published in

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14 March 2018

volume

50

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14 March 2018

issue

1

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14 March 2018

page(s)

3-13

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14 March 2018

Epidemiology of hearing loss and aetiological diagnosis of hearing impairment in childhood.

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Aetiological diagnosis in hearing-impaired children--clinical value and application of a modern examination programme.

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Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

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Hereditary deaf mutism, with particular reference to Northern Ireland

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

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A mutation in PDS causes non-syndromic recessive deafness

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7 January 2021

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

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Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

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

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Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

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Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

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Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

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

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Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

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7 January 2021

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

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7 January 2021

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

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7 January 2021

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Recommendations for masking in pure tone threshold audiometry. British Society of Audiology

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

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7 January 2021

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

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7 January 2021

10.1016/S0165-5876(99)00242-6

Identifiers

DOI

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14 March 2018

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14 March 2018