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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: gimenez a. Mol Vis. 2011 Apr 29;17:1103-9. Mol Vis. 2011. PMID: 21552474 Free PMC article.
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Riveiro-Alvarez R, et al. Among authors: gimenez a. Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4. Ophthalmology. 2013. PMID: 23755871 Free PMC article.
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
Fernandez-San Jose P, Blanco-Kelly F, Corton M, Trujillo-Tiebas MJ, Gimenez A, Avila-Fernandez A, Garcia-Sandoval B, Lopez-Molina MI, Hernan I, Carballo M, Riveiro-Alvarez R, Ayuso C. Fernandez-San Jose P, et al. Among authors: gimenez a. Acta Ophthalmol. 2015 Feb;93(1):e38-44. doi: 10.1111/aos.12486. Epub 2014 Nov 18. Acta Ophthalmol. 2015. PMID: 25408095 Free article.
Gene symbol: RPGR. Disease: Retinitis Pigmentosa.
Giménez A, Riveiro R, Trujillo-Tiebas MJ, Aguirre J, Avila A, García-Hoyos M, Ayuso C. Giménez A, et al. Hum Genet. 2008 Oct;124(3):303. Hum Genet. 2008. PMID: 18846630 No abstract available.
482 results