(Q44301746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

title

A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

9

1 reference

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17 December 2019

3

Darius M Moshfeghi

1 reference

17 December 2019

Zhenglin Yang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Wei Lin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Sukanya Thirumalaichary

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Xi Li

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Li Jiang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Heidi Zhang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Sheng Zhang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Elias I Traboulsi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Kang Zhang

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

language of work or name

English

0 references

publication date

1 February 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Ophthalmology

17 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

volume

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

issue

2

1 reference

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17 December 2019

page(s)

213-218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

Butterfly--Shaped Pigment Dystrophy of the Fovea

17 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Butterfly-shaped macular dystrophy in four generations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Adult-onset foveomacular pigment epithelial dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Hereditary vitelliform macular degeneration: variable fundus findings within a single pedigree

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901815-9

10.1016/S0002-9394(02)01815-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12566026%20AND%20SRC:MED&resulttype=core&format=json

release_xz3kk75gwvamdgzjxg6qeql6re

17 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xz3kk75gwvamdgzjxg6qeql6re

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference