Condition: Stargardt's disease


rs150774447 in ABCA4 gene and Stargardt's disease PMID 25910913 2015 High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

PMID 25066811 2014 Genetic and clinical analysis of ABCA4-associated disease in African American patients.

PMID 22328824 2012 Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 23982839 2013 ABCA4 gene screening by next-generation sequencing in a British cohort.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 14517951 2003 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

PMID 10612508 1999 A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

PMID 25082885 2014 Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

PMID 19217903 2009 G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

PMID 17325179 2007 Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.

PMID 22661473 2012 Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

PMID 22312191 2012 To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.

PMID 16103129 2005 ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

PMID 20696155 2010 Loss of peripapillary sparing in non-group I Stargardt disease.

PMID 22025579 2011 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

PMID 11017087 2000 Biochemical defects in ABCR protein variants associated with human retinopathies.

PMID 9466990 1998 Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

PMID 15579991 2004 Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.

PMID 22312191 2012 To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.

PMID 10090887 1999 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.

PMID 26593885 2016 Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

PMID 25712131 2015 Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 10711710 2000 New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 29186038 2017 Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

PMID 23918662 2013 Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

PMID 27820952 2016 The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

PMID 16303926 2005 Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.

PMID 29114839 2017 Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 23769331 2013 The clinical effect of homozygous ABCA4 alleles in 18 patients.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 11328725 2001 An analysis of allelic variation in the ABCA4 gene.

PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 27367509 2016 Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

PMID 26229699 2015 Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.

PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

PMID 12192456 2002 Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.

PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.

PMID 11123914 2000 The NBD2 expression plasmid was used to generate a Leu2027Phe mutation associated with Stargardt disease.

PMID 29422768 2018 Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

PMID 23143460 2012 Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

PMID 18652558 2008 Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

PMID 28130426 2017 Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

PMID 25283059 2015 Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

PMID 23419329 2013 ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

PMID 10090887 1999 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.

PMID 11919200 2002 Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.