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Page 1
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Miano MG, et al. Among authors: beneyto m. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958
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: beneyto m. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871. Invest Ophthalmol Vis Sci. 2003. PMID: 12714658
Putative association of a mutant ROM1 allele with retinitis pigmentosa.
Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S, Gonzàlez-Duarte R, Vilageliu L. Martínez-Mir A, et al. Among authors: beneyto m. Hum Genet. 1997 Jun;99(6):827-30. doi: 10.1007/s004390050456. Hum Genet. 1997. PMID: 9187681 Free article.
Identification of three novel mutations in the MYO7A gene.
Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, Ayuso C, Beneyto M, Nájera C. Cuevas JM, et al. Among authors: beneyto m. Hum Mutat. 1999 Aug 19;14(2):181. doi: 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10447383
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM. Jaijo T, et al. Among authors: beneyto m. Hum Mutat. 2006 Mar;27(3):290-1. doi: 10.1002/humu.9404. Hum Mutat. 2006. PMID: 16470552
Linkage analysis in Usher syndrome type I (USH1) families from Spain.
Espinós C, Nájera C, Millán JM, Ayuso C, Baiget M, Pérez-Garrigues H, Rodrigo O, Vilela C, Beneyto M. Espinós C, et al. Among authors: beneyto m. J Med Genet. 1998 May;35(5):391-8. doi: 10.1136/jmg.35.5.391. J Med Genet. 1998. PMID: 9610802 Free PMC article.
118 results