Cone Structure in Retinal Degeneration Associated with Mutations in theperipherin/RDSGene (Q30396169)

18 October 2017

Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene (English)

1 reference

https://api.crossref.org/works/10.1167/IOVS.10-6549

18 October 2017

Cone Structure in Retinal Degeneration Associated with Mutations in theperipherin/RDSGene (English)

1 reference

25 August 2024

1 reference

Shelley Day

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

25 August 2024

Kavitha Ratnam

1 reference

18 October 2017

Yuhua Zhang

1 reference

18 October 2017

Austin Roorda

1 reference

18 October 2017

Jacque L. Duncan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

25 August 2024

Katherine E. Talcott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

25 August 2024

Sanna M. Sundquist

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

25 August 2024

Anya S. Lucero

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

25 August 2024

language of work or name

English

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publication date

1 March 2011

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full work available at URL

18 October 2017

https://europepmc.org/articles/pmc3101697?pdf=render

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

http://intl.iovs.org/cgi/content/abstract/52/3/1557

25 August 2024

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21071739/?tool=EBI

25 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21071739/pdf/?tool=EBI

25 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

https://europepmc.org/articles/PMC3101697

25 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

https://europepmc.org/articles/PMC3101697?pdf=render

25 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

https://doi.org/10.1167/iovs.10-6549

25 August 2024

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21071739

http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.10-6549

25 August 2024

1 reference

https://api.crossref.org/works/10.1167/IOVS.10-6549

Investigative Ophthalmology Visual Science

25 August 2024

published in

1 reference

18 October 2017

1 reference

18 October 2017

1 reference

18 October 2017

1557-1566

1 reference

Spectral domain optical coherence tomography and adaptive optics: imaging photoreceptor layer morphology to interpret preclinical phenotypes

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Unusual adaptive optics findings in a patient with bilateral maculopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Clinicopathological case series of four patients with inherited macular disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

An intramembrane glutamic acid governs peripherin/rds function for photoreceptor disk morphogenesis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

High-resolution retinal imaging of cone-rod dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

MEMS-based adaptive optics scanning laser ophthalmoscopy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Evaluating the lateral resolution of the adaptive optics scanning laser ophthalmoscope

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Genetic and phenotypic heterogeneity in pattern dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Optical slicing of human retinal tissue in vivo with the adaptive optics scanning laser ophthalmoscope

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

A clinicopathologic study of a peculiar foveomacular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Automated identification of cone photoreceptors in adaptive optics retinal images

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Standard for clinical electroretinography (2004 update).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Optical fiber properties of individual human cones

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Autosomal dominant macular dystrophy in a large Canadian family.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Packing arrangement of the three cone classes in primate retina

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3101697

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

26 November 2018

1 reference

12 December 2020

In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations

1 reference

12 December 2020

A method for quantitative scoring of the Farnsworth Panel D-15

1 reference

12 December 2020

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

1 reference

12 December 2020

[Evaluation of the desaturated Panel D-15. I. Method of quantification and normal scores]

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene

1 reference

12 December 2020

Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family

1 reference

12 December 2020

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

1 reference

12 December 2020

Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors

1 reference

12 December 2020

Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule

1 reference

12 December 2020

Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein

1 reference

12 December 2020

Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene

1 reference

12 December 2020

Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene

1 reference

12 December 2020

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.10-6549

1 reference

18 October 2017

1 reference

18 October 2017

1 reference