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Genetics of retinoblastoma: a study.
Mateu E, Sánchez F, Nájera C, Beneyto M, Castell V, Hernández M, Serra I, Prieto F. Mateu E, et al. Cancer Genet Cytogenet. 1997 May;95(1):40-50. doi: 10.1016/s0165-4608(96)00387-1. Cancer Genet Cytogenet. 1997. PMID: 9140452
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. 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
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J. Aller E, et al. Ophthalmic Genet. 2007 Sep;28(3):151-5. doi: 10.1080/13816810701537374. Ophthalmic Genet. 2007. PMID: 17896313
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
Jaijo T, Aller E, Beneyto M, Najera C, Graziano C, Turchetti D, Seri M, Ayuso C, Baiget M, Moreno F, Morera C, Perez-Garrigues H, Millan JM. Jaijo T, et al. J Med Genet. 2007 Mar;44(3):e71. doi: 10.1136/jmg.2006.045377. J Med Genet. 2007. PMID: 17361009 Free PMC article. No abstract available.
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. 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 screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM. Aller E, et al. Clin Genet. 2004 Dec;66(6):525-9. doi: 10.1111/j.1399-0004.2004.00352.x. Clin Genet. 2004. PMID: 15521980
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM. Aller E, et al. J Med Genet. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764. J Med Genet. 2006. PMID: 17085681 Free PMC article.
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