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Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: baiget m. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13. Invest Ophthalmol Vis Sci. 2010. PMID: 19683999
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M. Martínez-Gimeno M, et al. Among authors: baiget m. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871. Invest Ophthalmol Vis Sci. 2003. PMID: 12714658
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: baiget m. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50. doi: 10.1167/iovs.09-3418. Epub 2009 Mar 25. Invest Ophthalmol Vis Sci. 2009. PMID: 19324861
Copy-number variations in EYS: a significant event in the appearance of arRP.
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G. Pieras JI, et al. Among authors: baiget m. Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31. doi: 10.1167/iovs.11-7292. Invest Ophthalmol Vis Sci. 2011. PMID: 21519034 Free article.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
336 results