(Q34387798)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Ricardo Fujita

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

David G. Birch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Samuel G. Jacobson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

L Gieser

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

H H Göring

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

J Ott

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

D R Hoffman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

A V Cideciyan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

language of work or name

English

0 references

publication date

1 November 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

5 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

1439-1447

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

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

5 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Strategies for multilocus linkage analysis in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Rod ERGs in retinitis pigmentosa and cone-rod degeneration.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Automatic selection of loop breakers for genetic linkage analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Negative electroretinograms in retinitis pigmentosa.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377555

X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

27 October 2018

1 reference

12 December 2020

Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene

1 reference

12 December 2020

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

1 reference

12 December 2020

Rhodopsin transgenic pigs as a model for human retinitis pigmentosa

1 reference

12 December 2020

Identifiers

DOI

10.1086/302121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792872%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

PubMed publication ID

9792872

1 reference