(Q36172144)

12 August 2017

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus (English)

1 reference

12 August 2017

1

Camiel J F Boon

1 reference

12 August 2017

Mary J van Schooneveld

2

1 reference

12 August 2017

Anneke I den Hollander

3

1 reference

12 August 2017

Janneke J C van Lith-Verhoeven

4

1 reference

12 August 2017

Marijke N Zonneveld-Vrieling

5

1 reference

12 August 2017

Thomas Theelen

6

1 reference

12 August 2017

Frans P M Cremers

7

1 reference

12 August 2017

Carel B Hoyng

8

1 reference

12 August 2017

B Jeroen Klevering

9

1 reference

12 August 2017

language of work or name

English

0 references

publication date

15 May 2007

1 reference

British Journal of Ophthalmology

12 August 2017

1 reference

12 August 2017

91

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12 August 2017

1504-1511

1 reference

12 August 2017

11

1 reference

The role of Rds in outer segment morphogenesis and human retinal disease

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Optical coherence tomography of enucleated human eye specimens with histological correlation: origin of the outer "red line".

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Genetic and phenotypic heterogeneity in pattern dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Inherited multifocal RPE-diseases: mechanisms for local dysfunction in global retinoid cycle gene defects

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Photoreceptor renewal: a role for peripherin/rds

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Fundus autofluorescence and development of geographic atrophy in age-related macular degeneration.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Age-dependent phenotypic expression of a pattern dystrophy of the retina

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

A simple salting out procedure for extracting DNA from human nucleated cells

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Inherited macular dystrophies: a clinical overview

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Improved splice site detection in Genie

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Pattern dystrophy of the pigment epithelium

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

A Peculiar Autosomal Dominant Macular Dystrophy Caused by an Asparagine Deletion at Codon 169 in the Peripherin/RDS Gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Patterned dystrophies of the retinal pigment epithelium

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

Preferential Rod and Cone Photoreceptor Abnormalities in Heterozygotes with Point Mutations in theRDSGene

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095453

A Multipurpose Optical System for Ophthalmic Electrodiagnosis

21 October 2018

1 reference

12 December 2020

Dominant slowly progressive macular dystrophy

1 reference

12 December 2020

Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study

1 reference

12 December 2020

Pigment epithelial pattern dystrophy. Four different manifestations in a family

1 reference

12 December 2020

Pattern dystrophy of the pigment epithelium

1 reference

12 December 2020

Pattern Dystrophy of the Retinal Pigment Epithelium

1 reference

12 December 2020

Butterfly-shaped macular dystrophy in four generations

1 reference

12 December 2020

Autosomal dominant pattern dystrophy of the retinal pigment epithelium. Intrafamilial variability

1 reference

12 December 2020

X-shaped macular dystrophy with flavimaculatus flecks

1 reference

12 December 2020

Histopathology of Incipient Fundus Flavimaculatus

1 reference

12 December 2020

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

12 December 2020

Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation

1 reference

12 December 2020

Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula

1 reference

12 December 2020

Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina

1 reference

12 December 2020

Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus

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

Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus

1 reference

12 December 2020

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.2007.115659

1 reference

12 August 2017

1 reference

12 August 2017

1 reference