Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation (Q33936748)

30 July 2017

title

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation (English)

1 reference

30 July 2017

1 reference

Michael S. Hildebrand

1

1 reference

30 July 2017

10

1 reference

30 July 2017

N P Thorne

2

1 reference

30 July 2017

C J Bromhead

3

1 reference

30 July 2017

K Kahrizi

4

1 reference

30 July 2017

J A Webster

5

1 reference

30 July 2017

Z Fattahi

6

1 reference

30 July 2017

M Bataejad

7

1 reference

30 July 2017

W J Kimberling

8

1 reference

30 July 2017

D Stephan

9

1 reference

30 July 2017

M Bahlo

11

1 reference

30 July 2017

R J H Smith

12

1 reference

30 July 2017

publication date

4 February 2010

1 reference

30 July 2017

1 reference

30 July 2017

volume

77

1 reference

30 July 2017

issue

6

1 reference

30 July 2017

page(s)

563-571

1 reference

Generating linkage mapping files from Affymetrix SNP chip data

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

A second generation human haplotype map of over 3.1 million SNPs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Sensorineural hearing loss in children.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Interactions in the network of Usher syndrome type 1 proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Estimation of the inbreeding coefficient through use of genomic data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

The structural basis of muscle contraction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

A type VII myosin encoded by the mouse deafness gene shaker-1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Defective myosin VIIA gene responsible for Usher syndrome type 1B

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation

5 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

From DFNB2 to Usher syndrome: variable expressivity of the same disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Searching for evidence of DFNB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01344.X

Usher syndrome type 1: early detection of electroretinographic changes

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891191

HaploPainter: a tool for drawing pedigrees with complex haplotypes

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20132242

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1399-0004.2009.01344.X

1 reference

30 July 2017

1 reference

30 July 2017

1 reference