Condition: CONE-ROD DYSTROPHY 3 (disorder)


rs1557787559 in ABCA4 gene and CONE-ROD DYSTROPHY 3 (disorder) PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PMID 22264887 2012 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

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

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

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 22427542 2012 A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.

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

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

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

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

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

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

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

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

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

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

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

PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 24444108 2014 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PMID 10958761 2000 Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

PMID 11385708 2001 Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

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

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

PMID 9503029 1998 Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

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

PMID 18285826 2008 ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

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

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 10413692 1999 Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.