(Q41783835)

English

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

scientific article published on 30 July 2008

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians (English)

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Usher syndrome type 2

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Robert Koenekoop

2

object named as

Robert K Koenekoop

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

author name string

Inga Ebermann

1

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Irma Lopez

3

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Lara Bou-Khzam

4

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Renée Pigeon

5

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Hanno J Bolz

6

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

publication date

30 July 2008

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

17

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

1

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

80-84

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.143

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

The changing face of Usher syndrome: clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Usher syndrome: molecular links of pathogenesis, proteins and pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 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=2985947

6 June 2018

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Identification of novel USH2A mutations: implications for the structure of USH2A protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985947

6 June 2018

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/18665195

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2008.143

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

ResearchGate publication ID

0 references

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