(Q43235655)

16 November 2017

0 references

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. (English)

1 reference

16 November 2017

1 reference

A Melamud

1

1 reference

16 November 2017

G-Q Shen

2

1 reference

16 November 2017

D Chung

3

1 reference

16 November 2017

Q Xi

4

1 reference

16 November 2017

E Simpson

5

1 reference

16 November 2017

L Li

6

1 reference

16 November 2017

N S Peachey

7

1 reference

16 November 2017

H Zegarra

8

1 reference

16 November 2017

S A Hagstrom

9

1 reference

16 November 2017

Q K Wang

10

1 reference

16 November 2017

E I Traboulsi

11

1 reference

16 November 2017

language of work or name

English

0 references

publication date

1 June 2006

1 reference

Journal of Medical Genetics

16 November 2017

1 reference

16 November 2017

43

1 reference

16 November 2017

6

1 reference

16 November 2017

e27

1 reference

Mutation of MEF2A in an inherited disorder with features of coronary artery disease

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Population genetic studies of retinitis pigmentosa.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

X-linked retinitis pigmentosa

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Primary structure and functional expression of a cyclic nucleotide-gated channel from rabbit aorta.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593026

Evidence for a new locus for X-linked retinitis pigmentosa (RP23)

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16740911

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16740911

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.031518

1 reference

16 November 2017

1 reference

16 November 2017

PubMed publication ID

16740911

1 reference