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2003 1
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Page 1
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.
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.
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.
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.
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.
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM. Jaijo T, et al. Among authors: hernan i. Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x. Clin Genet. 2011. PMID: 20497194
Therapeutic mammaplasty is a safe and effective alternative to mastectomy with or without immediate breast reconstruction.
Potter S, Trickey A, Rattay T, O'Connell RL, Dave R, Baker E, Whisker L, Skillman J, Gardiner MD, Macmillan RD, Holcombe C; TeaM and iBRA-2 Steering Groups, the Breast Reconstruction Research Collaborative, and the Mammary Fold Academic and Research Collaborative. Potter S, et al. Br J Surg. 2020 Jun;107(7):832-844. doi: 10.1002/bjs.11468. Epub 2020 Feb 19. Br J Surg. 2020. PMID: 32073654
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.
44 results