(Q50487331)

14 March 2018

title

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. (English)

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14 March 2018

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2

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Trevor Lucas

Trevor Lucas

3

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Christian Schöfer

Christian Schöfer

5

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Anton K Raap

Anton K Raap

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Wolf-Dieter Baumgartner

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Wolf-Dieter Baumgartner

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14 March 2018

Klemens Frei

1

Klemens Frei

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14 March 2018

Reinhard Ramsebner

6

Reinhard Ramsebner

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14 March 2018

Klara Weipoltshammer

4

Klara Weipoltshammer

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14 March 2018

Franz J Wachtler

10

Franz J Wachtler

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14 March 2018

Karin Kirschhofer

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Karin Kirschhofer

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14 March 2018

author name string

Reginald Bittner

9

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publication date

1 July 2002

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14 March 2018

European Journal of Human Genetics

published in

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volume

10

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issue

7

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14 March 2018

page(s)

427-432

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14 March 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200826

exact match

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cites work

Genetic epidemiology of hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Epidemiology of permanent childhood hearing impairment in Trent Region, 1985-1993.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

The gap junction communication channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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/10.1038%2FSJ.EJHG.5200826

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Molecular beacons: probes that fluoresce upon hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

A novel strategy for human papillomavirus detection and genotyping with SybrGreen and molecular beacon polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

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/10.1038%2FSJ.EJHG.5200826

Do ΔF508 heterozygotes have a selective advantage?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

A simple and reliable method for the detection of the 30delG mutation of the CX26 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

Connexin 26 Gene Mutations in Congenitally Deaf Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200826

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5200826

1 reference

14 March 2018

1 reference

14 March 2018