(Q50451078)

14 March 2018

title

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. (English)

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14 March 2018

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10

Cor W R J Cremers

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14 March 2018

Hannie Kremer

11

Hannie Kremer

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14 March 2018

Ronald J Admiraal

7

Ronald Admiraal

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14 March 2018

Rob W J Collin

1

Rob W J Collin

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14 March 2018

Jaap Oostrik

3

Jaap Oostrik

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14 March 2018

Tim M Strom

9

Tim M Strom

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14 March 2018

Patrick L M Huygen

6

Patrick L Huygen

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14 March 2018

Arjan P M de Brouwer

8

Arjan P M de Brouwer

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14 March 2018

Robert-Jan Pauw

4

Robert-Jan Pauw

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14 March 2018

Rutger F Plantinga

5

Rutger F Plantinga

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14 March 2018

Anne-Martine R de Heer

2

Anne-Martine R de Heer

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14 March 2018

publication date

25 June 2008

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14 March 2018

European Journal of Human Genetics

published in

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14 March 2018

volume

16

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14 March 2018

issue

12

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14 March 2018

page(s)

1430-1436

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14 March 2018

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Allegro, a new computer program for multipoint linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

The regulation of splice-site selection, and its role in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Common themes in the function of transcription and splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Polypeptide composition of the mammalian tectorial membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

A deafness mutation isolates a second role for the tectorial membrane in hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

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%2FEJHG.2008.110

Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

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%2FEJHG.2008.110

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Chick alpha-tectorin: molecular cloning and expression during embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Clinical aspects of hereditary hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

inferred from DOI database lookup

7 January 2021

based on heuristic

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.110

1 reference

14 March 2018

1 reference

14 March 2018