(Q37309913)

English

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene

scientific article published on January 1995

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

0 references

author name string

Apfelstedt-Sylla E

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Theischen M

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Rüther K

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Wedemann H

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Gal A

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Zrenner E

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

1 January 1995

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

British Journal of Ophthalmology

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

79

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

28-34

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

6 September 2017

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

6 September 2017

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

6 September 2017

Mutations in the human peripherin/RDS gene associated 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=505014

6 September 2017

Progressive cone-rod degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

6 September 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=505014

6 September 2017

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

6 September 2017

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=505014

6 September 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=505014

6 September 2017

A patterned macular dystrophy with yellow plaques and atrophic changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

26 June 2018

Butterfly--Shaped Pigment Dystrophy of the Fovea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505014

2 September 2018

Cone-Rod Dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous 'null allele' mutation in the human peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fundus flavimaculatus. A clinical classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominantly inherited macular dystrophy with flecks (Stargardt)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

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/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pattern Dystrophy of the Retinal Pigment Epithelium

1 reference

https://pubmed.ncbi.nlm.nih.gov/7880786

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/7880786

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.79.1.28

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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