(Q45198203)

10 December 2017

title

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene (English)

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10 December 2017

B Jeroen Klevering

1

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10 December 2017

August F Deutman

2

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10 December 2017

Alessandra Maugeri

3

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10 December 2017

Frans P M Cremers

4

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10 December 2017

Carel B Hoyng

5

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10 December 2017

publication date

22 December 2004

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Graefe's Archive for Clinical and Experimental Ophthalmology

10 December 2017

published in

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10 December 2017

volume

243

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10 December 2017

issue

2

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10 December 2017

page(s)

90-100

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https://scigraph.springernature.com/pub.10.1007/s00417-004-1079-4

10 December 2017

exact match

0 references

cites work

Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)

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12 December 2020

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

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12 December 2020

Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

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12 December 2020

Retinal age pigments generated by self-assembling lysosomotropic detergents

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12 December 2020

Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration

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12 December 2020

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

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12 December 2020

The ABCA4 gene in autosomal recessive cone-rod dystrophies

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12 December 2020

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

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12 December 2020

CLINICAL PHENOTYPE AS A PROGNOSTIC FACTOR IN STARGARDT DISEASE

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12 December 2020

Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene

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12 December 2020

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

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12 December 2020

The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The various categories of juvenile macular degeneration

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12 December 2020

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

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12 December 2020

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

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12 December 2020

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

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12 December 2020

Isolation of intact lysosomes from human RPE cells and effects of A2-E on the integrity of the lysosomal and other cellular membranes

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12 December 2020

Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence.

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12 December 2020

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

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12 December 2020

Fundus flavimaculatus. Clinical, functional and histopathologic observations

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Interactions between the retinal pigment epithelium and the neural retina

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12 December 2020

Simple and complex ABCR: genetic predisposition to retinal disease

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12 December 2020

Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy.

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12 December 2020

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family

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12 December 2020

A Multipurpose Optical System for Ophthalmic Electrodiagnosis

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12 December 2020

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

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12 December 2020

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

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12 December 2020

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up

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12 December 2020

ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease

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12 December 2020

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

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12 December 2020

ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa

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12 December 2020

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

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12 December 2020

Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration

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12 December 2020

Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration

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12 December 2020

Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus

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12 December 2020

ABCR unites what ophthalmologists divide(s)

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12 December 2020

Fundus Flavimaculatus and Stargardt's Disease

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12 December 2020

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

1 reference

12 December 2020

A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus

1 reference

12 December 2020

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

12 December 2020

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

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

ABCR gene analysis in familial exudative age-related macular degeneration

1 reference

12 December 2020

Isotretinoin treatment inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration

1 reference

12 December 2020

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

1 reference

12 December 2020

Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy

1 reference

12 December 2020

Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A special form of tapetoretinal degeneration: fundus flavimaculatus

1 reference

12 December 2020

An analysis of allelic variation in the ABCA4 gene

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12 December 2020

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

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12 December 2020

Fundus flavimaculatus. A clinical classification

1 reference

12 December 2020

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

1 reference

12 December 2020

10.1007/S00417-004-1079-4

Identifiers

DOI

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Dimensions Publication ID

10 December 2017

1012517214

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