Results 11 to 20 of about 2,525,884 (192)

Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation [PDF]

Case Reports in Ophthalmology, 2012
Purpose: To report on 4 patients affected by Stargardt’s disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis. Methods: Four patients with a diagnosis of STGD were clinically examined.
Settimio Rossi, Francesco Testa, Marcella Attanasio, Ada Orrico, Antonella de Benedictis, Michele Della Corte, Francesca Simonelli   +6 more
doaj   +6 more sources

Gene Therapy of ABCA4-Associated Diseases. [PDF]

Cold Spring Harbor Perspectives in Medicine, 2015
The ATP-binding cassette (ABC) transporter gene, ABCA4 (ABCR), was characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (STGD1).
AURICCHIO, ALBERTO, Trapani I, Allikmets R.   +2 more
core   +4 more sources

Genotypic and Phenotypic Insights on 11 Novel Variants in the <i>ABCA4</i> Gene. [PDF]

Genes (Basel)
Objectives: The aim of this study was to report novel ABCA4 variants detected in a cohort of 259 patients with ABCA4 retinopathy with the intention of improving the diagnostic accuracy for ABCA4 retinopathy and expanding its genetic spectrum. Methods: We
Al-Khuzaei S, Yu J, Broadgate S, Shanks M, Clouston P, MacLaren RE, Charbel Issa P, Halford S, De Silva SR, Downes SM.   +9 more
europepmc   +3 more sources

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene [PDF]

Investigative Opthalmology & Visual Science, 2012
Purpose. We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. Methods.
Umfress A, Zernant J, Burke TR, Fishman GA, Tsang SH, Shubert C, BALDI, Alfonso, Ciccarelli ML, Smith RT, Klaver CC, Ayyagari R, Allikmets R., Koenekoop RK, Iannaccone A, Cremers FP   +14 more
core   +6 more sources

ABCA4 Gene Screening by Next-Generation Sequencing in a British CohortNext-Generation Sequencing of ABCA4 in British [PDF]

Investigative Opthalmology & Visual Science, 2013
PurposeWe applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations.MethodsWe identified 79 patients with a clinical diagnosis of ABCA4 ...
Webster, Andrew R, Zernant, Jana, Ozawa, Yoko, Allikmets, Rando, Fujinami, Kaoru, Wright, Genevieve A, Moore, Anthony T, Chana, Ravinder K, Tsubota, Kazuo, Tsunoda, Kazushige, Michaelides, Michel   +10 more
core   +7 more sources

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Molecular Therapy: Nucleic Acids, 2022
Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein.
Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +2 more sources

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. [PDF]

Graefe's Archive for Clinical and Experimental Ophthalmology, 2005
Contains fulltext : 47685.pdf (Publisher’s version ) (Open Access)BACKGROUND: The majority of studies on the retina-specific ATP-binding cassette transporter (ABCA4) gene have focussed on molecular genetic analysis; comparatively few ...
Klevering, B.J., Maugeri, A., Cremers, F.P.M., Deutman, A.F., Hoyng, C.B.   +4 more
core   +4 more sources

Denaturing HPLC Profiling of the ABCA4 Gene for Reliable Detection of Allelic Variations [PDF]

Clinical Chemistry, 2004
Background: Mutations in the retina-specific ABC transporter (ABCA4) gene have been associated with several forms of macular degenerations. Because the high complexity of the molecular genotype makes scanning of the ABCA4 gene cumbersome, we describe ...
E. Martina, L. Cremonesi, N. Soriani, R. Brancato, I. Fermo, R. Paroni, S. Galbiati, R. Allikmets, S. Battistella, M. Ferrari, S. Stenirri, M.P. Manitto   +11 more
core   +4 more sources

An analysis of allelic variation in the ABCA4 gene

Investigative ophthalmology & visual science, 2001
PURPOSE. To assess the allelic variation of the ATP-binding transporter protein (ABCA4). METHODS. A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to systematically screen this gene for sequence ...
Heon, Elise, Beck, Gretel, Stone, Edwin M., Vandenburgh, Kimberlie, Jacobson, Samuel G., Sheffield, Val C., Lotery, Andrew J., Lam, Byron L., Oh, Kean T., Fishman, Gerald A., Webster, Andrew R., Casavant, Thomas L., Heckenlively, John R., Weleber, Richard G., Levin, Alex   +14 more
core   +3 more sources

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

BMC Ophthalmology
Background This study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants.
Lasse Wolfram, David A. Merle, Laura Kühlewein, Milda Reith, Melanie Kempf, Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Katarina Stingl   +12 more
doaj   +3 more sources