(Q35591946)

9 August 2017

title

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene (English)

1 reference

9 August 2017

S S Dandekar

1

1 reference

9 August 2017

N D Ebenezer

2

1 reference

9 August 2017

C Grayson

3

1 reference

9 August 2017

J P Chapple

4

1 reference

9 August 2017

C A Egan

5

1 reference

9 August 2017

G E Holder

6

1 reference

9 August 2017

S A Jenkins

7

1 reference

9 August 2017

F W Fitzke

8

1 reference

9 August 2017

M E Cheetham

9

1 reference

9 August 2017

A R Webster

10

1 reference

9 August 2017

A J Hardcastle

11

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 April 2004

1 reference

British Journal of Ophthalmology

9 August 2017

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

9 August 2017

volume

88

1 reference

9 August 2017

issue

4

1 reference

9 August 2017

page(s)

528-532

1 reference

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Novel frameshift mutations in the RP2 gene and polymorphic variants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Tubulin folding cofactors as GTPase-activating proteins. GTP hydrolysis and the assembly of the alpha/beta-tubulin heterodimer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Positional cloning of the gene for X-linked retinitis pigmentosa 2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Distribution of fundus autofluorescence with a scanning laser ophthalmoscope

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

X-linked retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Retinitis pigmentosa. Visual loss

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

X-linked recessive atrophic macular degeneration from RPGR mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mutations in the RPGR gene cause X-linked cone dystrophy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

On the heredity of retinitis pigmentosa

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772091

X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15031171

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-linked recessive fundus dystrophies and their carrier states

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15031171

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.2003.027979

1 reference

9 August 2017

1 reference

9 August 2017

1 reference