(Q35185818)

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Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene

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Europe PubMed Central

PubMed publication ID

7 August 2017

Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

neovascularization

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inferred from title

Stephen P. Daiger

9

object named as

Stephen P Daiger

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Europe PubMed Central

PubMed publication ID

7 August 2017

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Shahrokh C Khani

1

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7 August 2017

Athanasios J Karoukis

2

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7 August 2017

Joyce E Young

3

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7 August 2017

Rajesh Ambasudhan

4

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7 August 2017

Tracy Burch

5

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7 August 2017

Richard Stockton

6

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Europe PubMed Central

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7 August 2017

Richard Alan Lewis

7

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7 August 2017

Lori S Sullivan

8

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7 August 2017

Elias Reichel

10

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7 August 2017

Radha Ayyagari

11

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7 August 2017

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publication date

1 August 2003

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Europe PubMed Central

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7 August 2017

Investigative Ophthalmology Visual Science

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Europe PubMed Central

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7 August 2017

44

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PubMed publication ID

7 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

3570-3577

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

A fundus dystrophy with unusual features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

What can we learn about age-related macular degeneration from other retinal diseases?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

The genetics of age-related macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Diagnostic issues with inherited retinal and macular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Identification of the gene responsible for Best macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Abnormal axonemes in X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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=2581458

28 July 2018

Best's vitelliform dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

28 July 2018

Mutations in the human retinal degeneration slow gene in 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=2581458

28 July 2018

X-linked recessive atrophic macular degeneration from RPGR mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

A novel locus for Leber congenital amaurosis maps to chromosome 6q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581458

27 September 2018

Abnormal sperm and photoreceptor axonemes in Usher's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

North Carolina macular dystrophy is assigned to chromosome 6

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sorsby's fundus dystrophy. A clinical study

1 reference

https://pubmed.ncbi.nlm.nih.gov/12882809

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/12882809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1167/IOVS.02-1287

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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