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A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mößner A, Pauleikhoff D, Adrion C, Mansmann U, Scholl HP, Holz FG, Weber BH. Fritsche LG, et al. Invest Ophthalmol Vis Sci. 2012 Apr 30;53(4):2112-8. doi: 10.1167/iovs.11-8785. Invest Ophthalmol Vis Sci. 2012. PMID: 22427542
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Riveiro-Alvarez R, et al. Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4. Ophthalmology. 2013. PMID: 23755871 Free PMC article.
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, Perez-Carro R, Zurita O, Sanchez-Bolivar N, Lopez-Molina MI, Garcia-Sandoval B, Riveiro-Alvarez R, Ayuso C. Fernandez-San Jose P, et al. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2173-82. doi: 10.1167/iovs.14-16178. Invest Ophthalmol Vis Sci. 2015. PMID: 25698705
Highly Variable Disease Courses in Siblings with Stargardt Disease.
Valkenburg D, Runhart EH, Bax NM, Liefers B, Lambertus SL, Sánchez CI, Cremers FPM, Hoyng CB. Valkenburg D, et al. Ophthalmology. 2019 Dec;126(12):1712-1721. doi: 10.1016/j.ophtha.2019.07.010. Epub 2019 Jul 16. Ophthalmology. 2019. PMID: 31522899
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC, García-Montaño LA, Cruz-Aguilar M, Ronquillo J, Rodas-Serrano A, Aguilar-Castul L, Matsui R, Vencedor-Meraz CI, Arce-González R, Graue-Wiechers F, Gutiérrez-Paz M, Urrea-Victoria T, de Dios Cuadras U, Chacón-Camacho OF. Zenteno JC, et al. Mol Genet Genomic Med. 2020 Jan;8(1):10.1002/mgg3.1044. doi: 10.1002/mgg3.1044. Epub 2019 Nov 17. Mol Genet Genomic Med. 2020. PMID: 31736247 Free PMC article.