(Q34976308)

5 August 2017

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title

Nonsyndromic hereditary hearing loss. (English)

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5 August 2017

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Xiaoyan Cindy Li

1

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5 August 2017

Rick A Friedman

series ordinal

2

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5 August 2017

publication date

1 April 2002

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Otolaryngologic Clinics of North America

5 August 2017

published in

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5 August 2017

volume

35

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5 August 2017

issue

2

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5 August 2017

page(s)

275-285

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Genetic epidemiology of hearing impairment

5 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0030-6665%2802%2900013-0

7 January 2021

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Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

7 January 2021

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Dominant modifier DFNM1 suppresses recessive deafness DFNB26

7 January 2021

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The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

7 January 2021

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

7 January 2021

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

7 January 2021

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Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

7 January 2021

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

7 January 2021

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A mutation in PDS causes non-syndromic recessive deafness

7 January 2021

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

7 January 2021

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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

7 January 2021

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Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

7 January 2021

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Genetic deafness--progress with mouse models

7 January 2021

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7 January 2021

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Inherited hearing defects in mice

7 January 2021

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Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

7 January 2021

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

7 January 2021

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Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

7 January 2021

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

7 January 2021

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Nonsyndromic hearing impairment is associated with a mutation in DFNA5

7 January 2021

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OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

7 January 2021

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Connexin 26 gene linked to a dominant deafness

7 January 2021

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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

7 January 2021

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Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

7 January 2021

1 reference

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KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

7 January 2021

1 reference

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

7 January 2021

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A new spontaneous mouse mutation in the Kcne1 gene

7 January 2021

1 reference

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Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

7 January 2021

1 reference

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

7 January 2021

1 reference

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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

7 January 2021

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Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

7 January 2021

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Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

7 January 2021

1 reference

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Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2802%2900013-0

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

7 January 2021

1 reference

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Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

7 January 2021

1 reference

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Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

7 January 2021

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A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

7 January 2021

1 reference

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Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

7 January 2021

1 reference

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Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

7 January 2021

1 reference

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Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2802%2900013-0

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2802%2900013-0

10.1016/S0030-6665(02)00013-0

7 January 2021

Identifiers

DOI

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5 August 2017

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