Molecular genetics of non-syndromic deafness (Q36382019)

13 August 2017

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title

Molecular genetics of non-syndromic deafness (English)

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13 August 2017

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Vânia B Piatto

1

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13 August 2017

Ellen C T Nascimento

2

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13 August 2017

Fabiana Alexandrino

3

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13 August 2017

Camila A Oliveira

4

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13 August 2017

Ana Cláudia P Lopes

5

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13 August 2017

Edi Lúcia Sartorato

6

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13 August 2017

José Victor Maniglia

7

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13 August 2017

publication date

1 March 2005

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Brazilian Journal of Otorhinolaryngology

13 August 2017

published in

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13 August 2017

volume

71

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13 August 2017

issue

2

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13 August 2017

page(s)

216-223

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Hereditary deafness and phenotyping in humans

13 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Nonsyndromic hearing loss.

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Deafness genes and their diagnostic applications

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Gradients of Neurotrophins, Ion Channels, and Tuning in the Cochlea

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

The roles of unconventional myosins in hearing and deafness

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

The molecular genetics of Usher syndrome

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Mutations of MYO6 are associated with recessive deafness, DFNB37

1 reference

https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

1 reference

https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity

1 reference

https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.

1 reference

https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

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https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.

1 reference

https://api.crossref.org/works/10.1016%2FS1808-8694%2815%2931313-6

7 January 2021

10.1016/S1808-8694(15)31313-6

Identifiers

DOI

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13 August 2017

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