Associated Papers
Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration.
Chou HD et al.
Diagnostics (basel, Switzerland), 2023
Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.
Cevik S et al.
International Journal of Molecular Sciences, 2023
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.
Kolesnikova M et al.
Jci Insight, 2022
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.
Fars J et al.
Investigative Ophthalmology & Visual Science, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Vatsyayan A et al.
Plos One, 2021
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.
Piccardi M et al.
Nutrients, 2019
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K et al.
The British Journal of Ophthalmology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.
Sung Y et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2019
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Smaragda K et al.
Journal of Ophthalmology, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.
Abed E et al.
Journal of Ophthalmology, 2017
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.
Tsipi M et al.
Meta Gene, 2016
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
Ścieżyńska A et al.
Experimental Eye Research, 2016
[Autoimmune lymphoproliferative syndrome: a case report and literature review].
Sun JP et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2015
Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.
Liu YP et al.
Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015
Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
Grassmann F et al.
Bmc Ophthalmology, 2015
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Zernant J et al.
Human Mutation, 2014
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.
Chacón-Camacho OF et al.
Experimental Eye Research, 2013
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Audo I et al.
Orphanet Journal of Rare Diseases, 2012
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Aguirre-Lamban J et al.
Investigative Ophthalmology & Visual Science, 2011
Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.
Fujinami K et al.
Acta Ophthalmologica, 2011
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.
Chen B et al.
Experimental Eye Research, 2010
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R et al.
The British Journal of Ophthalmology, 2009
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.
Beit-Ya'acov A et al.
Investigative Ophthalmology & Visual Science, 2007
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Valverde D et al.
Investigative Ophthalmology & Visual Science, 2007
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.
Zhang Q et al.
Human Genetics, 2005
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K et al.
Human Mutation, 2003
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
Fumagalli A et al.
Human Genetics, 2001
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
Paloma E et al.
Human Mutation, 2001
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Yatsenko AN et al.
Human Genetics, 2001
Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender.
Schmidt S et al.
Molecular Vision, 2000
ABCR gene analysis in familial exudative age-related macular degeneration.
Souied EH et al.
Investigative Ophthalmology & Visual Science, 2000
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.
De La Paz MA et al.
Ophthalmology, 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.
Maugeri A et al.
American Journal of Human Genetics, 1999
MSH2 genomic deletions are a frequent cause of HNPCC.
Wijnen J et al.
Nature Genetics, 1998
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration.
Stone EM et al.
Nature Genetics, 1998
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Allikmets R et al.
Science (new York, N.y.), 1997