(Q37454102)

20 August 2017

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa (English)

1 reference

20 August 2017

1 reference

1 reference

9

Rob W J Collin

1 reference

20 August 2017

13

Frans P M Cremers

1 reference

20 August 2017

Maleeha Azam

1

1 reference

20 August 2017

Muhammad Imran Khan

2

1 reference

20 August 2017

Andreas Gal

3

1 reference

20 August 2017

Alamdar Hussain

4

1 reference

20 August 2017

Syed Tahir Abbas Shah

5

1 reference

20 August 2017

Muhammad Shakil Khan

6

1 reference

20 August 2017

Ahmed Sadeque

7

1 reference

20 August 2017

Habib Bokhari

8

1 reference

20 August 2017

Ulrike Orth

10

1 reference

20 August 2017

Maria M van Genderen

11

1 reference

20 August 2017

A I den Hollander

12

1 reference

20 August 2017

Raheel Qamar

14

1 reference

20 August 2017

3 December 2009

1 reference

20 August 2017

1 reference

20 August 2017

15

1 reference

20 August 2017

2526-2534

1 reference

A second generation human haplotype map of over 3.1 million SNPs

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Visual rhodopsin sees the light: structure and mechanism of G protein signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Retinitis pigmentosa: genes, proteins and prospects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Structure of rhodopsin and the superfamily of seven-helical receptors: the same and not the same

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

On the heredity of retinitis pigmentosa

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Retinitis pigmentosa. The Friedenwald Lecture

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Light adaptation of human rod receptors: the leading edge of the human a-wave and models of rod receptor activity.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

The retinal conformation and its environment in rhodopsin in light of a new 2.2 A crystal structure

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

Genetic and clinical characterization of a survey population with retinitis pigmentosa.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2787306

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

2 September 2018

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Missense rhodopsin mutation in a family with recessive RP

1 reference

12 December 2020

Identifiers

1 reference

20 August 2017

PubMed publication ID

19960070

1 reference