Deafness, Autosomal Dominant 9

Known as: DFNA9 
 

Topic mentions per year

Topic mentions per year

1996-2017
0246819962017

Papers overview

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2003
2003
Five missense mutations in the FCH/LCCL domain of the COCH gene, encoding the protein cochlin, are pathogenic for the autosomal… (More)
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2003
2003
The COCH gene mutated in autosomal dominant sensorineural deafness (DFNA9) encodes cochlin, a major constituent of the inner ear… (More)
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2001
2001
Missense mutations in the COCH gene, which is expressed preferentially at high levels in the inner ear, cause the autosomal… (More)
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2001
2001
The LCCL domain is a recently discovered, conserved protein module named after its presence in Limulus factor C, cochlear protein… (More)
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2001
2001
Hereditary hearing loss is a heterogeneous condition at both the genetic and clinical levels. We have recruited an Australian… (More)
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1999
1999
We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic… (More)
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1999
1999
We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying… (More)
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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… (More)
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1997
1997
Previously we identified a partial human cDNA for a novel cochlear transcript, hCoch-5B2 (HGMW-approved symbol D14S564E), using… (More)
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1996
1996
We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to… (More)
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