Avila-Fernandez A - Search Results

1

CSVS, a crowdsourcing database of the Spanish population genetic variability.

Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium; Carracedo Á, Alonso Á, Dopazo J. Peña-Chilet M, et al. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.

2

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Mol Vis. 2007 Nov 27;13:2160-2. Mol Vis. 2007. PMID: 18079693

3

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Riveiro-Alvarez R, et al. Mol Vis. 2008 Feb 4;14:262-7. Mol Vis. 2008. PMID: 18334942 Free PMC article.

4

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. 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.

5

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. 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

6

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

7

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C. Ávila-Fernández A, et al. Mol Vis. 2010 Dec 3;16:2550-8. Mol Vis. 2010. PMID: 21151602 Free PMC article.

8

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

Aguirre-Lamban J, González-Aguilera JJ, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Corton M, Blanco-Kelly F, Garcia-Sandoval B, Ayuso C. Aguirre-Lamban J, et al. Invest Ophthalmol Vis Sci. 2011 Aug 5;52(9):6206-12. doi: 10.1167/iovs.10-5743. Invest Ophthalmol Vis Sci. 2011. PMID: 21330655

9

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. Mol Vis. 2011 Apr 29;17:1103-9. Mol Vis. 2011. PMID: 21552474 Free PMC article.

10

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E. Garcia-Garcia G, et al. Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65. Orphanet J Rare Dis. 2011. PMID: 22004887 Free PMC article.

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