Blanco-Kelly F - Search Results

1

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Kesim Y, Ceroni F, Damián A, Blanco-Kelly F, Ayuso C, Williamson K, Paquis-Flucklinger V, Bax DA, Plaisancié J, Rieubland C, Chamlal M, Cortón M, Chassaing N, Calvas P, Ragge NK. Kesim Y, et al. Among authors: blanco kelly f. Eur J Hum Genet. 2023 Oct;31(10):1175-1180. doi: 10.1038/s41431-023-01342-8. Epub 2023 Mar 31. Eur J Hum Genet. 2023. PMID: 36997679 Free PMC article.

2

Members 6B and 14 of the TNF receptor superfamily in multiple sclerosis predisposition.

Blanco-Kelly F, Alvarez-Lafuente R, Alcina A, Abad-Grau MM, de Las Heras V, Lucas M, de la Concha EG, Fernández O, Arroyo R, Matesanz F, Urcelay E. Blanco-Kelly F, et al. Genes Immun. 2011 Mar;12(2):145-8. doi: 10.1038/gene.2010.42. Epub 2010 Oct 21. Genes Immun. 2011. PMID: 20962851

3

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.

4

An update on the genetics of usher syndrome.

Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. Millán JM, et al. J Ophthalmol. 2011;2011:417217. doi: 10.1155/2011/417217. Epub 2010 Dec 23. J Ophthalmol. 2011. PMID: 21234346 Free PMC article.

5

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

6

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.

7

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

Hernan I, Gamundi MJ, Borràs E, Maseras M, García-Sandoval B, Blanco-Kelly F, Ayuso C, Carballo M. Hernan I, et al. Clin Genet. 2012 Nov;82(5):446-52. doi: 10.1111/j.1399-0004.2011.01796.x. Epub 2011 Nov 2. Clin Genet. 2012. PMID: 21981118

8

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.

9

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

Blanco-Kelly F, García-Hoyos M, Cortón M, Avila-Fernández A, Riveiro-Álvarez R, Giménez A, Hernan I, Carballo M, Ayuso C. Blanco-Kelly F, et al. Mol Vis. 2012;18:1478-83. Epub 2012 Jun 5. Mol Vis. 2012. PMID: 22736939 Free PMC article.

10

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C. Avila-Fernandez A, et al. Ophthalmology. 2012 Dec;119(12):2616-21. doi: 10.1016/j.ophtha.2012.06.033. Epub 2012 Aug 20. Ophthalmology. 2012. PMID: 22917891

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