DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (Q37480377)

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2 February 2020

title

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (English)

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2 February 2020

main subject

nonsyndromic deafness

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1 reference

7

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11

Thomas B Friedman

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2 February 2020

2

Saima Riazuddin

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2 February 2020

10

Sheikh Riazuddin

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2 February 2020

6

Atteeq Ur Rehman

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2 February 2020

3

Mohsin Shahzad

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2 February 2020

author name string

Shahid Yar Khan

1

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2 February 2020

Nazir Ahmed

4

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2 February 2020

Ahmad Usman Zafar

5

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2 February 2020

Andrew J Griffith

8

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2 February 2020

Zubair M Ahmed

9

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publication date

1 January 2010

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European Journal of Human Genetics

2 February 2020

published in

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volume

18

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issue

1

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page(s)

125-129

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Newborn hearing screening--a silent revolution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

The sensory and motor roles of auditory hair cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Human Nonsyndromic Sensorineural Deafness

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795002

Faster linkage analysis computations for pedigrees with loops or unused alleles.

2 September 2018

1 reference

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2 September 2018

Identifiers

DOI

10.1038/EJHG.2009.121

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2 February 2020

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2 February 2020

PubMed publication ID

19603065

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