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A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.
Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. Martínez-Mir A, et al. Among authors: ayuso c. Genomics. 1997 Feb 15;40(1):142-6. doi: 10.1006/geno.1996.4528. Genomics. 1997. PMID: 9070931 Free article.
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: ayuso c. 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.
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: ayuso c. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C. Beneyto MM, et al. Among authors: ayuso c. Ophthalmic Genet. 2000 Jun;21(2):123-8. Ophthalmic Genet. 2000. PMID: 10916187
576 results