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Page 1
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: hernan i. Acta Ophthalmol. 2015 Feb;93(1):e38-44. doi: 10.1111/aos.12486. Epub 2014 Nov 18. Acta Ophthalmol. 2015. PMID: 25408095 Free article.
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
Moreno-Cabrera JM, Feliubadaló L, Pineda M, Prada-Dacasa P, Ramos-Muntada M, Del Valle J, Brunet J, Gel B, Currás-Freixes M, Calsina B, Salazar-Hidalgo ME, Rodríguez-Balada M, Roig B, Fernández-Castillejo S, Durán Domínguez M, Arranz Ledo M, Infante Sanz M, Castillejo A, Dámaso E, Soto JL, de Miguel M, Hidalgo Calero B, Sánchez-Zapardiel JM, Ramon Y Cajal T, Lasa A, Gisbert-Beamud A, López-Novo A, Ruiz-Ponte C, Potrony M, Álvarez-Mora MI, Osorio A, Lorda-Sánchez I, Robledo M, Cascón A, Ruiz A, Spataro N, Hernan I, Borràs E, Moles-Fernández A, Earl J, Cadiñanos J, Sánchez-Heras AB, Bigas A, Capellá G, Lázaro C. Moreno-Cabrera JM, et al. Among authors: hernan i. Database (Oxford). 2024 Jul 4;2024:baae055. doi: 10.1093/database/baae055. Database (Oxford). 2024. PMID: 38965703 Free PMC article.
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Milla E, Laguna J, Alforja MS, Pascual B, Gamundi MJ, Borràs E, Hernán I, Muniesa MJ, Pazos M, Duch S, Carballo M, Jodar M; EMEIGG group. Milla E, et al. Among authors: hernan i. PLoS One. 2024 Jan 19;19(1):e0282133. doi: 10.1371/journal.pone.0282133. eCollection 2024. PLoS One. 2024. PMID: 38241218 Free PMC article.
Night blindness and hearing loss associated with choroideremia.
Biarnés M, Ferraro LL, Hernán I, Gamundi MJ, Garcia Planas M, Abadías C, Romero C, Carrasco A, Carballo M, Monés J. Biarnés M, et al. Among authors: hernan i. Clin Exp Optom. 2024 Aug;107(6):679-682. doi: 10.1080/08164622.2023.2227766. Epub 2023 Jun 22. Clin Exp Optom. 2024. PMID: 37349105 No abstract available.
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. Pena-Couso L, et al. Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Orphanet J Rare Dis. 2022. PMID: 35227301 Free PMC article.
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.
Arzalluz-Luque Á, Cabrera JL, Skottman H, Benguria A, Bolinches-Amorós A, Cuenca N, Lupo V, Dopazo A, Tarazona S, Delás B, Carballo M, Pascual B, Hernan I, Erceg S, Lukovic D. Arzalluz-Luque Á, et al. Among authors: hernan i. Front Neurosci. 2021 Apr 29;15:636969. doi: 10.3389/fnins.2021.636969. eCollection 2021. Front Neurosci. 2021. PMID: 33994920 Free PMC article.
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. Sci Rep. 2021. PMID: 33972629 Free PMC article. No abstract available.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
44 results