(Q34689630)

4 August 2017

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan (English)

1 reference

4 August 2017

1 reference

1 reference

8

T B Friedman

1 reference

4 August 2017

S-I Kitajiri

1

1 reference

4 August 2017

R McNamara

2

1 reference

4 August 2017

T Makishima

3

1 reference

4 August 2017

T Husnain

4

1 reference

4 August 2017

A U Zafar

5

1 reference

4 August 2017

R A Kittles

6

1 reference

4 August 2017

Z M Ahmed

7

1 reference

4 August 2017

S Riazuddin

9

1 reference

4 August 2017

A J Griffith

10

1 reference

4 August 2017

17 September 2007

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4 August 2017

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4 August 2017

72

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4 August 2017

6

1 reference

4 August 2017

546-550

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Human Nonsyndromic Sensorineural Deafness

4 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00895.X

10.1111/J.1399-0004.2007.00895.X

21 January 2018

Identifiers

DOI

1 reference

4 August 2017

1 reference