(Q34144057)

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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

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scholarly article

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Europe PubMed Central

31 July 2017

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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 (English)

1 reference

Europe PubMed Central

31 July 2017

11

1 reference

Europe PubMed Central

31 July 2017

Stephen P. Daiger

7

object named as

S P Daiger

1 reference

Europe PubMed Central

31 July 2017

author name string

A J Mears

1

1 reference

Europe PubMed Central

31 July 2017

S Hiriyanna

2

1 reference

Europe PubMed Central

31 July 2017

R Vervoort

3

1 reference

Europe PubMed Central

31 July 2017

B Yashar

4

1 reference

Europe PubMed Central

31 July 2017

L Gieser

5

1 reference

Europe PubMed Central

31 July 2017

S Fahrner

6

1 reference

Europe PubMed Central

31 July 2017

J R Heckenlively

8

1 reference

Europe PubMed Central

31 July 2017

P A Sieving

9

1 reference

Europe PubMed Central

31 July 2017

A F Wright

10

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Europe PubMed Central

31 July 2017

language of work or name

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publication date

1 September 2000

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Europe PubMed Central

31 July 2017

American Journal of Human Genetics

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Europe PubMed Central

31 July 2017

67

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Europe PubMed Central

31 July 2017

4

1 reference

Europe PubMed Central

31 July 2017

1000-1003

1 reference

Europe PubMed Central

31 July 2017

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

Severe manifestations in carrier females in X linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

Nomenclature for inherited diseases of the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287869

28 October 2018

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/10970770

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site

1 reference

https://pubmed.ncbi.nlm.nih.gov/10970770

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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