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Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Aguirre-Lamban J, et al. Among authors: ramos c. Invest Ophthalmol Vis Sci. 2010 May;51(5):2615-9. doi: 10.1167/iovs.09-4518. Epub 2009 Dec 3. Invest Ophthalmol Vis Sci. 2010. PMID: 19959634
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ramos c. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50. doi: 10.1167/iovs.09-3418. Epub 2009 Mar 25. Invest Ophthalmol Vis Sci. 2009. PMID: 19324861
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: ramos c. 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: ramos c. 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.
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ramos c. Br J Ophthalmol. 2009 Oct;93(10):1359-64. doi: 10.1136/bjo.2008.148155. Epub 2008 Oct 31. Br J Ophthalmol. 2009. PMID: 18977788 Free PMC article. Review.
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Aguirre-Lamban J, et al. Among authors: ramos c. Br J Ophthalmol. 2009 May;93(5):614-21. doi: 10.1136/bjo.2008.145193. Epub 2008 Nov 21. Br J Ophthalmol. 2009. PMID: 19028736 Free PMC article.
Evaluation of SFRP1 as a candidate for human retinal dystrophies.
Garcia-Hoyos M, Cantalapiedra D, Arroyo C, Esteve P, Rodríguez J, Riveiro R, Trujillo MJ, Ramos C, Bovolenta P, Ayuso C. Garcia-Hoyos M, et al. Among authors: ramos c. Mol Vis. 2004 Jun 28;10:426-31. Mol Vis. 2004. PMID: 15235574 Free article.
1,961 results