(Q24313576)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

Retinitis pigmentosa GTPase regulator

8 November 2019

main subject

1 reference

GOA release 2020-03-11

visual perception

1 reference

GOA release 2020-03-11

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

David G. Birch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Samuel G. Jacobson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Anand Swaroop

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

M Buraczynska

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

W Wu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

K Buraczynska

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

E Phelps

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Andréasson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

J Bennett

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G A Fishman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

D R Hoffman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G Inana

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M A Musarella

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

P A Sieving

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 December 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

1287-1292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

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

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

X-linked retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716085

X-linked retinitis pigmentosa. Profile of clinical findings

27 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9399904

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9399904

12 December 2020

inferred from PubMed ID database lookup

Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9399904

12 December 2020

inferred from PubMed ID database lookup

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301646

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301646

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399904%20AND%20SRC:MED&resulttype=core&format=json