A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation (Q24646997)

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

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instance of

scholarly article

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title

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

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main subject

genotype-phenotype correlation

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based on heuristic

inferred from title

phenotype

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based on heuristic

inferred from title

author

Cor W. R. J. Cremers

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6

object named as

Cor W R J Cremers

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Hannie Kremer

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5

object named as

Hannie Kremer

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Patrick L M Huygen

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3

object named as

Patrick L M Huygen

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Henricus Kunst

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4

object named as

Henricus P M Kunst

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Arjan P M de Brouwer

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2

object named as

Arjan P M de Brouwer

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Rutger F Plantinga

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1

object named as

Rutger F Plantinga

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language of work or name

English

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publication date

June 2006

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published in

J A R O

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volume

7

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issue

2

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page(s)

173-81

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cites work

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

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A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24

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7 April 2017

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

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7 April 2017

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

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7 April 2017

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

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27 September 2017

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

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27 September 2017

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

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

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27 September 2017

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

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Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

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30 May 2018

Oculomotor, auditory, and vestibular responses in myotonic dystrophy

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30 May 2018

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

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21 January 2018

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family

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21 January 2018

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

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28 November 2018

A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss

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28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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28 November 2018

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/16718611

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10162-006-0033-Z

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Dimensions Publication ID

1002547704

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PMC publication ID

2504577

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PubMed publication ID

16718611

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ResearchGate publication ID

7063208

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