(Q42741655)

English

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

scientific article published on January 2007

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scholarly article

1 reference

Europe PubMed Central

6 November 2017

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population (English)

1 reference

Europe PubMed Central

6 November 2017

author name string

Inga Ebermann

1

1 reference

Europe PubMed Central

6 November 2017

Irma Lopez

2

1 reference

Europe PubMed Central

6 November 2017

Maria Bitner-Glindzicz

3

1 reference

Europe PubMed Central

6 November 2017

Carolyn Brown

4

1 reference

Europe PubMed Central

6 November 2017

Robert Karel Koenekoop

5

1 reference

Europe PubMed Central

6 November 2017

Hanno Jörn Bolz

6

1 reference

Europe PubMed Central

6 November 2017

publication date

1 January 2007

1 reference

Europe PubMed Central

6 November 2017

1 reference

Europe PubMed Central

6 November 2017

8

1 reference

Europe PubMed Central

6 November 2017

4

1 reference

Europe PubMed Central

6 November 2017

R47

1 reference

Europe PubMed Central

6 November 2017

https://scigraph.springernature.com/pub.10.1186/gb-2007-8-4-r47

0 references

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

A haplotype map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Population history and its impact on medical genetics in Quebec

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

The molecular genetics of Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

The usher syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

GDB: the Human Genome Database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Genetic epidemiology of hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

27 May 2018

Ush1c216A knock-in mouse survives Katrina.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

16 August 2018

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

16 August 2018

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895989

16 August 2018

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

1 reference

https://pubmed.ncbi.nlm.nih.gov/17407589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/17407589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/GB-2007-8-4-R47

1 reference

Europe PubMed Central

6 November 2017

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/gb-2007-8-4-r47

1 reference

Europe PubMed Central

6 November 2017

1 reference

Europe PubMed Central

6 November 2017

ResearchGate publication ID

0 references

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