|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
|
25388789 |
2014 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
|
22931125 |
2013 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
|
23993205 |
2013 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
|
22610276 |
2012 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
BEFREE |
Retrospective analyses of audiometric data from 8 mutation carriers of an Australian DFNA9 family with the I109N COCH mutation were performed.
|
21774451 |
2011 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
|
18312449 |
2008 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenotype description of a novel DFNA9/COCH mutation, I109T.
|
17561763 |
2007 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).
|
16835921 |
2006 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.
|
12928864 |
2003 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
|
14512963 |
2003 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
|
11295836 |
2001 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
|
10400989 |
1999 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
|
9931344 |
1999 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
|
9806553 |
1998 |
|
Deafness, Autosomal Dominant 9
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Sensorineural Hearing Loss (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the clinical characteristics of an Australian family with an autosomal dominant sensorineural hearing impairment (DFNA9) caused by an I109N mutation in COCH.
|
21774451 |
2011 |
|
hearing impairment
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel mutation (I109T) in COCH segregates with hearing impairment and vestibular dysfunction in the present family.
|
17561763 |
2007 |