(Q46533698)

22 December 2017

title

Genotype-phenotype correlation in Italian families with Stargardt disease (English)

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22 December 2017

genotype-phenotype correlation

main subject

Italy

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1

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22 December 2017

Francesco Testa

object named as

Francesco Testa

2

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author name string

Jana Zernant

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22 December 2017

Anna Nesti

4

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22 December 2017

Settimio Rossi

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22 December 2017

Rando Allikmets

6

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22 December 2017

Ernesto Rinaldi

7

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22 December 2017

publication date

7 May 2005

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22 December 2017

published in

Ophthalmic Research

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22 December 2017

volume

37

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22 December 2017

issue

3

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22 December 2017

page(s)

159-167

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22 December 2017

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

cites work

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

21 January 2018

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Multifocal electroretinogram: age-related changes for different luminance levels

21 January 2018

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Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

21 January 2018

1 reference

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

21 January 2018

1 reference

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

21 January 2018

1 reference

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.

21 January 2018

1 reference

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

21 January 2018

1 reference

Long-term follow-up of Stargardt's disease and fundus flavimaculatus

21 January 2018

1 reference

Visual acuity loss and clinical observations in a large series of patients with Stargardt disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000086073

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22 December 2017

PubMed ID

15942264

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22 December 2017