Mutation in the COCH gene is associated with superior semicircular canal dehiscence (Q83220713)

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20 January 2020

title

Mutation in the COCH gene is associated with superior semicircular canal dehiscence (English)

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20 January 2020

author

Michael S. Hildebrand

1

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20 January 2020

Adam P. DeLuca

3

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20 January 2020

Guy Van Camp

9

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20 January 2020

Richard J Smith

14

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20 January 2020

author name string

Dylan Tack

2

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20 January 2020

In Ae Hur

4

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20 January 2020

Jana M Van Rybroek

5

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20 January 2020

Sarah J McMordie

6

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20 January 2020

Ann Muilenburg

7

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20 January 2020

David P Hoskinson

8

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20 January 2020

Myles L Pensak

10

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20 January 2020

Ian S Storper

11

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20 January 2020

Patrick L M Huygen

12

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20 January 2020

Thomas L Casavant

13

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20 January 2020

publication date

1 February 2009

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American Journal of Medical Genetics

20 January 2020

published in

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20 January 2020

volume

149A

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20 January 2020

issue

2

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20 January 2020

page(s)

280-285

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A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss

20 January 2020

cites work

1 reference

12 December 2020

Superior semicircular canal dehiscence presenting as conductive hearing loss without vertigo

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12 December 2020

Genetic epidemiology of hearing impairment

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12 December 2020

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

1 reference

12 December 2020

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

1 reference

12 December 2020

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

1 reference

12 December 2020

Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.

1 reference

12 December 2020

Operative management of superior semicircular canal dehiscence

1 reference

12 December 2020

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

1 reference

12 December 2020

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

1 reference

12 December 2020

Clinical manifestations of superior semicircular canal dehiscence

1 reference

12 December 2020

A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction

1 reference

12 December 2020

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

1 reference

12 December 2020

LCCL proteins of apicomplexan parasites.

1 reference

12 December 2020

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

1 reference

12 December 2020

Auditory function in patients with surgically treated superior semicircular canal dehiscence

1 reference

12 December 2020

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

1 reference

12 December 2020

Semicircular canal function before and after surgery for superior canal dehiscence

1 reference

12 December 2020

Phenotype description of a novel DFNA9/COCH mutation, I109T.

1 reference

12 December 2020

Correction of progressive hearing loss in superior canal dehiscence syndrome

1 reference

12 December 2020

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families

1 reference

12 December 2020

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

1 reference

12 December 2020

Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin

1 reference

12 December 2020

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

1 reference

12 December 2020

Dehiscence of bone overlying the superior semicircular canal as a cause of an air-bone gap on audiometry: a case study

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12 December 2020

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

1 reference

12 December 2020

High-resolution CT findings suggest a developmental abnormality underlying superior canal dehiscence syndrome.

1 reference

12 December 2020

Dehiscence of bone overlying the superior canal as a cause of apparent conductive hearing loss

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12 December 2020

CT evaluation of bone dehiscence of the superior semicircular canal as a cause of sound- and/or pressure-induced vertigo.

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12 December 2020

NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

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12 December 2020

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

1 reference

12 December 2020

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

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12 December 2020

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12 December 2020

Superior canal dehiscence syndrome.

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12 December 2020

Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32618

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19161137%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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20 January 2020

PubMed publication ID

19161137

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