(Q36987094)

17 August 2017

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene (English)

1 reference

17 August 2017

1 reference

2

Bernard Rosner

1 reference

17 August 2017

Michael A Sandberg

1

1 reference

17 August 2017

Carol Weigel-DiFranco

3

1 reference

17 August 2017

Terri L McGee

4

1 reference

17 August 2017

Thaddeus P Dryja

5

1 reference

17 August 2017

Eliot L Berson

6

1 reference

17 August 2017

language of work or name

English

0 references

publication date

18 July 2008

1 reference

Investigative Ophthalmology Visual Science

17 August 2017

1 reference

17 August 2017

49

1 reference

17 August 2017

12

1 reference

17 August 2017

5532-5539

1 reference

Ultra-high resolution optical coherence tomography assessment of photoreceptors in retinitis pigmentosa and related diseases.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

The association between visual acuity and central retinal thickness in retinitis pigmentosa

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588642

Natural course of visual field loss in patients with Type 2 Usher syndrome

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18641288

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.08-2009

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18641288

1 reference