Genetics and molecular biology of deafness (Q33752726)

29 July 2017

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title

Genetics and molecular biology of deafness (English)

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29 July 2017

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Grundfast KM

1

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29 July 2017

Atwood JL

series ordinal

2

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29 July 2017

Chuong D

series ordinal

3

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29 July 2017

publication date

1 December 1999

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Otolaryngologic Clinics of North America

29 July 2017

published in

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29 July 2017

volume

32

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29 July 2017

issue

6

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29 July 2017

page(s)

1067-1088

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

29 July 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

7 January 2021

1 reference

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Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

7 January 2021

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Connexin family of gap junction proteins

7 January 2021

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The molecular genetics of inherited deafness--current and future applications.

7 January 2021

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Treatment efficacy: hearing loss in children

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

7 January 2021

A note on deaf mutism

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Connexin-26 mutations in sporadic and inherited sensorineural deafness

7 January 2021

1 reference

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness

7 January 2021

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Sensorineural deafness inherited as a tissue specific mitochondrial disorder

7 January 2021

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

7 January 2021

1 reference

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Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Otologic manifestations of Wolf-Hirschhorn syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Genes responsible for human hereditary deafness: symphony of a thousand

7 January 2021

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Clinical and genetic heterogeneity in X-linked deafness

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

A stepwise approach to the diagnosis and treatment of hereditary hearing loss

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0030-6665%2805%2970195-X

10.1016/S0030-6665(05)70195-X

7 January 2021

Identifiers

DOI

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29 July 2017

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