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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
Medina-Trillo C, Sánchez-Sánchez F, Aroca-Aguilar JD, Ferre-Fernández JJ, Morales L, Méndez-Hernández CD, Blanco-Kelly F, Ayuso C, García-Feijoo J, Escribano J. Medina-Trillo C, et al. Among authors: ayuso c. PLoS One. 2015 Mar 18;10(3):e0119272. doi: 10.1371/journal.pone.0119272. eCollection 2015. PLoS One. 2015. PMID: 25786029 Free PMC article.
An update on the genetics of usher syndrome.
Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. Millán JM, et al. Among authors: ayuso c. J Ophthalmol. 2011;2011:417217. doi: 10.1155/2011/417217. Epub 2010 Dec 23. J Ophthalmol. 2011. PMID: 21234346 Free PMC article.
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, González-Aguilera JJ, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Corton M, Blanco-Kelly F, Garcia-Sandoval B, Ayuso C. Aguirre-Lamban J, et al. Among authors: ayuso c. Invest Ophthalmol Vis Sci. 2011 Aug 5;52(9):6206-12. doi: 10.1167/iovs.10-5743. Invest Ophthalmol Vis Sci. 2011. PMID: 21330655
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C. Garcia-Hoyos M, et al. Among authors: ayuso c. Mol Vis. 2011 Apr 29;17:1103-9. Mol Vis. 2011. PMID: 21552474 Free PMC article.
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C. Avila-Fernandez A, et al. Among authors: ayuso c. Ophthalmology. 2012 Dec;119(12):2616-21. doi: 10.1016/j.ophtha.2012.06.033. Epub 2012 Aug 20. Ophthalmology. 2012. PMID: 22917891
576 results