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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: garcia garcia g. 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
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM. Jaijo T, et al. Among authors: garcia garcia g. Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x. Clin Genet. 2011. PMID: 20497194
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM. Aller E, et al. Among authors: garcia garcia g. Mol Vis. 2010 Mar 23;16:495-500. Mol Vis. 2010. PMID: 20352026 Free PMC article.
Novel mutations in the USH1C gene in Usher syndrome patients.
Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM. Aparisi MJ, et al. Among authors: garcia garcia g. Mol Vis. 2010 Dec 31;16:2948-54. Mol Vis. 2010. PMID: 21203349 Free PMC article.
344 results