(Q24533358)

English

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

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

0 references

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 (English)

1 reference

Europe PubMed Central

4 July 2017

0 references

1 reference

based on heuristic

inferred from title

Usher syndrome type 2A

1 reference

based on heuristic

inferred from title

1

0 references

9

object named as

Hannie Kremer

1 reference

Europe PubMed Central

4 July 2017

Frans P M Cremers

7

object named as

Frans P M Cremers

1 reference

Europe PubMed Central

4 July 2017

Helger G Yntema

5

object named as

Helger G Yntema

1 reference

Europe PubMed Central

4 July 2017

author name string

Ronald J E Pennings

2

1 reference

Europe PubMed Central

4 July 2017

Heleen te Brinke

3

1 reference

Europe PubMed Central

4 July 2017

Annemarie Claassen

4

1 reference

Europe PubMed Central

4 July 2017

Lies H Hoefsloot

6

1 reference

Europe PubMed Central

4 July 2017

Cor W R J Cremers

8

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

10 March 2004

1 reference

Europe PubMed Central

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

4 July 2017

74

1 reference

Europe PubMed Central

4 July 2017

4

1 reference

Europe PubMed Central

4 July 2017

738-744

1 reference

Europe PubMed Central

4 July 2017

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

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=1181950

24 March 2017

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Usherin expression is highly conserved in mouse and human tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

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=1181950

24 March 2017

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=1181950

24 March 2017

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

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=1181950

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Usher syndrome in the city of Birmingham--prevalence and clinical classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

The Pfam protein families database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

PDZ domains and the organization of supramolecular complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

24 March 2017

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=1181950

27 September 2017

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

27 September 2017

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

27 September 2017

A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

27 September 2017

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=1181950

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

27 September 2017

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=1181950

27 September 2017

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

30 May 2018

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

30 May 2018

USH2A mutation analysis in 70 Dutch families 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=1181950

29 November 2018

Prevalence and geographical distribution of Usher syndrome in Germany.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

29 November 2018

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

29 November 2018

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

29 November 2018

Usher's syndrome type 3 in Finland.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181950

29 November 2018

Visual acuity loss in patients with Usher's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15015129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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