(Q37216323)

19 August 2017

0 references

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

1 reference

19 August 2017

1 reference

1

F Yesim K Demirci

1 reference

19 August 2017

9

Juliane Ramser

1 reference

19 August 2017

Brian W Rigatti

2

1 reference

19 August 2017

Gaiping Wen

3

1 reference

19 August 2017

Amy L Radak

4

1 reference

19 August 2017

Tammy S Mah

5

1 reference

19 August 2017

Corrine L Baic

6

1 reference

19 August 2017

Elias I Traboulsi

7

1 reference

19 August 2017

Tiina Alitalo

8

1 reference

19 August 2017

Michael B Gorin

10

1 reference

19 August 2017

language of work or name

English

0 references

publication date

20 February 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

1 reference

19 August 2017

4

1 reference

19 August 2017

1049-1053

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

Novel mutations of the RPGR gene in RP3 families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

X-linked retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379101

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa

20 October 2018

1 reference

12 December 2020

X-linked cone dystrophy. An overlooked diagnosis?

1 reference

12 December 2020

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

12 December 2020

DNA carrier detection in X-linked progressive cone dystrophy

1 reference

12 December 2020

Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree

1 reference

12 December 2020

Identifiers

DOI

10.1086/339620

1 reference

19 August 2017

1 reference

19 August 2017

1 reference