The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Pnas Nexus
Peter, Virginie G VG; Kaminska, Karolina K; Santos, Cristina C; Quinodoz, Mathieu M; Cancellieri, Francesca F; Cisarova, Katarina K; Pescini Gobert, Rosanna R; Rodrigues, Raquel R; Custódio, Sónia S; Paris, Liliana P LP; Sousa, Ana Berta AB; Coutinho Santos, Luisa L; Rivolta, Carlo C
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Translational Vision Science & Technology
Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG
Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.
Frontiers In Genetics
Villafuerte-De la Cruz, R R; Chacon-Camacho, O F OF; Rodriguez-Martinez, A C AC; Xilotl-De Jesus, N N; Arce-Gonzalez, R R; Rodriguez-De la Torre, C C; Valdez-Garcia, J E JE; Rojas-Martinez, A A; Zenteno, J C JC
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Acta Ophthalmologica
Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J
Publication Date: 2020-12
Variant appearance in text: ABCA4: 5044_5058delGTTGCCATCTGCGTG
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Publication Date: 2019-03
Variant appearance in text: ABCR: 5041_5055delGTGGTTGCCATCTGC; Val1681_Cys1685del
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Genes
Porto, Fernanda B O FBO; Jones, Evan M EM; Branch, Justin J; Soens, Zachry T ZT; Maia, Igor Mendes IM; Sena, Isadora F G IFG; Sampaio, Shirley A M SAM; Simões, Renata T RT; Chen, Rui R
ABCA4 gene screening by next-generation sequencing in a British cohort.
Investigative Ophthalmology & Visual Science
Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M
Publication Date: 2013-10-11
Variant appearance in text: ABCA4: 5041_5055del; V1681_C1685del