The genetics of inherited macular dystrophies (Q35213761)

7 August 2017

1 reference

title

The genetics of inherited macular dystrophies (English)

1 reference

7 August 2017

Michaelides M

1

1 reference

7 August 2017

Hunt DM

series ordinal

2

1 reference

7 August 2017

Moore AT

series ordinal

3

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 September 2003

1 reference

Journal of Medical Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

40

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7 August 2017

issue

9

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7 August 2017

page(s)

641-650

1 reference

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

7 August 2017

cites work

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13 July 2018

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Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

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Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

13 July 2018

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The vitelliform macular dystrophy protein defines a new family of chloride channels

13 July 2018

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13 July 2018

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The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes

13 July 2018

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Autosomal dominant Stargardt-like macular dystrophy

13 July 2018

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Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration

13 July 2018

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Experimental retinal detachment: a paradigm for understanding the effects of induced photoreceptor degeneration

13 July 2018

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13 July 2018

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13 July 2018

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

13 July 2018

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

13 July 2018

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A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.

13 July 2018

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A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

13 July 2018

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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

13 July 2018

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Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

13 July 2018

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Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

13 July 2018

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Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

13 July 2018

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Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

13 July 2018

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North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis

13 July 2018

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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

13 July 2018

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Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

13 July 2018

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

13 July 2018

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North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis

13 July 2018

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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

13 July 2018

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

13 July 2018

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The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

13 July 2018

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Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

13 July 2018

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Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q

13 July 2018

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Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

13 July 2018

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Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

13 July 2018

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Identification of the gene responsible for Best macular dystrophy

13 July 2018

1 reference

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Genetic association of apolipoprotein E with age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Positional cloning of the gene associated with X-linked juvenile retinoschisis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

In vivo fundus autofluorescence in macular dystrophies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

13 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

13 July 2018

X linked retinoschisis

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Infantile presentation of X linked retinoschisis

13 July 2018

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Distribution of fundus autofluorescence with a scanning laser ophthalmoscope

13 July 2018

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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

13 July 2018

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The dark choroid in posterior retinal dystrophies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Progressive bifocal chorio-retinal atrophy. A rare familial disease of the eyes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Pathophysiology of age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Cell loss in the aging retina. Relationship to lipofuscin accumulation and macular degeneration.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

13 July 2018

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

A mouse model for Sorsby fundus dystrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Involvement of oxidative mechanisms in blue-light-induced damage to A2E-laden RPE.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Genetic risk of age-related maculopathy. Population-based familial aggregation study

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

The development of central areolar choroidal dystrophy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Molecular evidence for non-penetrance in Best's disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Macular pattern dystrophy associated with a mutation of mitochondrial DNA.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735576

A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus

15 November 2018

1 reference

12 December 2020

ABCR unites what ophthalmologists divide(s)

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness

1 reference

12 December 2020

Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus

1 reference

12 December 2020

Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration

1 reference

12 December 2020

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

12 December 2020

Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration

1 reference

12 December 2020

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation

1 reference

12 December 2020

Histopathology of Best's macular dystrophy

1 reference

12 December 2020

A histopathologic study of Best's macular dystrophy

1 reference

12 December 2020

Visual acuity loss in patients with Stargardt's macular dystrophy

1 reference

12 December 2020

Monozygotic Twins With Age-Related Macular Degeneration

1 reference

12 December 2020

Sorsby's fundus dystrophy. A light and electron microscopic study

1 reference

12 December 2020

Adult vitelliform macular dystrophy

1 reference

12 December 2020

Dominantly inherited cystoid macular edema

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term Evaluation of Patients with Best's Vitelliform Dystrophy

1 reference

12 December 2020

Fundus autofluorescence in age-related macular disease imaged with a laser scanning ophthalmoscope

1 reference

12 December 2020

Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus

1 reference

12 December 2020

An analysis of allelic variation in the ABCA4 gene

1 reference

12 December 2020

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q

1 reference

12 December 2020

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

1 reference

12 December 2020

Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q

1 reference

12 December 2020

Histopathology of juvenile retinoschisis

1 reference

12 December 2020

Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state

1 reference

12 December 2020

Pathology of Hereditary Juvenile Retinoschisis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease

1 reference

12 December 2020

TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy

1 reference

12 December 2020

A full genome scan for age-related maculopathy

1 reference

12 December 2020

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

1 reference

12 December 2020

Delayed rod dark adaptation in patients with Stargardt's disease

1 reference

12 December 2020

[Color vision defect. A early sign of Sorsby retinal dystrophy?]

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

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

12 December 2020

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.40.9.641

1 reference

7 August 2017

1 reference

7 August 2017

1 reference