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Deafness, Autosomal Dominant 9

Known as: DFNA9 
 
National Institutes of Health

Papers overview

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Highly Cited
2006
Highly Cited
2006
Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene… Expand
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2005
2005
Mutations within the COCH gene (encoding the cochlin protein) lead to auditory and vestibular impairment in the DFNA9 disorder… Expand
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Highly Cited
2001
Highly Cited
2001
In order to better understand the cause of hereditary hearing impairment, we have performed a proteomic analysis of the inner ear… Expand
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Highly Cited
2001
Highly Cited
2001
Missense mutations in the COCH gene, which is expressed preferentially at high levels in the inner ear, cause the autosomal… Expand
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Highly Cited
1999
Highly Cited
1999
We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic… Expand
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Highly Cited
1999
Highly Cited
1999
We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying… Expand
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1999
1999
OBJECTIVES Analysis of phenotype-genotype correlation. STUDY DESIGN Family study. METHODS Auditory and vestibulo-ocular… Expand
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Highly Cited
1998
Highly Cited
1998
DFNA9 is an autosomal dominant, nonsyndromic, progressive sensorineural hearing loss with vestibular pathology. Here we report… Expand
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Highly Cited
1997
Highly Cited
1997
Previously we identified a partial human cDNA for a novel cochlear transcript, hCoch-5B2 (HGMW-approved symbol D14S564E), using… Expand
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Highly Cited
1996
Highly Cited
1996
We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to… Expand
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