(Q24676020)

English

Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin

scientific article published on March 1, 1992

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scholarly article

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Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin (English)

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retinitis pigmentosa

1 reference

based on heuristic

inferred from title

human chromosome 6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

membrane glycoprotein

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

nerve tissue protein

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

author name string

S. A. Jordan

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

G. J. Farrar

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

R. Kumar-Singh

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

P. Kenna

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

M. M. Humphries

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

V. Allamand

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

E. M. Sharp

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

P. Humphries

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

language of work or name

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publication date

March 1992

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full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1539599/pdf/?tool=EBI

Portable Document Format

online access status

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1539599/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

https://europepmc.org/articles/PMC1684267

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

https://europepmc.org/articles/PMC1684267?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1539599

6 October 2022

American Journal of Human Genetics

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50

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3

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634-9

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Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

7 April 2017

A 3-bp deletion in the rhodopsin gene in a 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=1684267

7 April 2017

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=1684267

7 April 2017

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

7 April 2017

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

7 April 2017

A study of retinitis pigmentosa in the City of Birmingham. I Prevalence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

Dinucleotide repeat polymorphism at the D6S89 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

Mutations within the rhodopsin gene in patients 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=1684267

28 September 2017

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=1684267

28 September 2017

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

Dinucleotide repeat polymorphism at the D6S109 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

Dinucleotide repeat polymorphism at the D6S105 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

DdeI polymorphism in the HLA-DRA regulatory region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

28 September 2017

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=1684267

28 September 2017

Degenerative changes in a retina affected 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=1684267

30 May 2018

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

30 May 2018

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

30 May 2018

Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

30 May 2018

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684267

30 May 2018

Sixty-five radiation hybrids for the short arm of human chromosome 6: Their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of receptor outer segments in the retina of rds mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripherin. A rim-specific membrane protein of rod outer segment discs

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standard for clinical electroretinography. International Standardization Committee

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of retinitis pigmentosa in Maine

1 reference

https://pubmed.ncbi.nlm.nih.gov/1539599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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