The USH2A c.2299delG mutation: dating its common origin in a Southern European population (Q34329270)

1 August 2017

The USH2A c.2299delG mutation: dating its common origin in a Southern European population (English)

1 reference

1 August 2017

David Baux

4

0 references

Carmen Espinós

object named as

Carmen Espinós

5

0 references

Francesc Palau

object named as

Francesc Palau

8

0 references

Mireille Claustres

9

1 reference

Fernando González-Candelas

1 August 2017

6

object named as

Fernando González-Candelas

1 reference

1 August 2017

Elena Aller

1

1 reference

1 August 2017

Lise Larrieu

2

1 reference

1 August 2017

Teresa Jaijo

3

1 reference

1 August 2017

Carmen Nájera

7

1 reference

1 August 2017

Anne-Françoise Roux

10

1 reference

1 August 2017

José M Millán

11

1 reference

1 August 2017

10 February 2010

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

18

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1 August 2017

788-793

1 reference

1 August 2017

7

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.14

1 August 2017

0 references

cites work

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Median-joining networks for inferring intraspecific phylogenies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Likelihood analysis of disequilibrium mapping, and related problems

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Estimating the age of alleles by use of intraallelic variability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Measuring the strength of associations between HLA antigens and diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

The neighbor-joining method: a new method for reconstructing phylogenetic trees

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

A common sequence motif associated with recombination hot spots and genome instability in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Joint Bayesian estimation of mutation location and age using linkage disequilibrium.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

DMLE+: Bayesian linkage disequilibrium gene mapping.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987359

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20145675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20145675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.14

1 reference

1 August 2017

1 reference

1 August 2017

1 reference