(Q35250041)

English

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

Marcella Devoto

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

T L McGee

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J Ott

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

E L Berson

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T P Dryja

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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publication date

1 November 1997

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

61

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1059-1066

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

12 July 2018

A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

26 September 2018

Dominant Retinitis Pigmentosa With Reduced Penetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716046

15 November 2018

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silence speaks in spectrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345108%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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