Publicacions

Biarnés M, Ferraro LL, Hernan I, Gamundi MJ, Garcia Planas M, Abadías C, Romero C, Carrasco A, Carballo M, Monés J. Night blindness and hearing loss associated with choroideremia. Clin Exp Optom. 2023 Jun 22:1-4. doi: 10.1080/08164622.2023.2227766. Epub ahead of print. PMID: 37349105. 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. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients. Orphanet J Rare Dis. 2022 Feb 28; 17(1):85. doi: 10.1186/s13023-021-02079-7. PMID: 35227301; PMCID: PMC8886852. Arzalluz-Luque Á, Cabrera JL, Skottman H, Benguria A, Bolinches-Amoroso A, Cuenca N, Lupo V, Dopazo A, Tarazona S, Delás B , Carballo M , Pascual B, Hernan I , Erceg S, Lukovic D. Mutante PRPF8 Causas Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells. Frente Neurosci. 2021 Apr 29;15:636969. doi: 10.3389/fnins.2021.636969 . PMID: 33994920; PMCID: PMC8116631. Perea Romero I, Gordo G, Yancu 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 Y, 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. Genetic landscape of 6089 inherited retinal distrofies afectadas casas en España y sus terapéuticas y extendidas epidemiological implicaciones. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y . Erratum in: Sci Rep. 2021 May 10;11(1):10340. PMID: 33452396; PMCID: PMC7810997. Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O’Callaghan M, Pinar M, Armstrong J; Rett Working Group . X inactivación chromosome no es necesario determinar la severidad del phenotype en Rett síndrome sufriente. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. PMID: 31427717; PMCID: PMC6700087. Martin-Merida I, Aguilera-Garcia D, Fernandez-San Jose P, Blanco-Kelly F, Zurita O, Almoguera B, Garcia-Sandoval B, Avila-Fernandez A, Arteche A, Minguez P, Carballo M , Corton M, Ayuso C. Toward the Mutational Landscape of Autosomal Dominante Retinitis Pigmentosa: En Comprehensive Analysis of 258 Spanish Families. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854 . PMID: 29847639. Milla E, Gamundi MJ , Duch S, Rios J, Carballo M , Study Group E. Phenotypic Description of the Spanish Multicentro Genetic Glaucoma Group Cohort. J Ophthalmol. 2017 ;2017:1907454. doi: 10.1155/2017/1907454 . Epub 2017 Sep 26. PMID: 29082038; PMCID: PMC5634567. Lukovic D, Bolinches-Amorós A, Artero-Castro A, Pascual B, Carballo M, Hernan I , Erceg S. Generación de humano iPSC line from a sufriente s retinitis pigmentosa causada por mutación en PRPF8 gene. Stem Cell Nada. 2017 May;21:23-25. doi: 10.1016/j.scr.2017.03.007 . Epub 2017 Mar 15. PMID: 28677533. Martin-Merida I, Sanchez-Alcudia R, Fernández-San Jose P, Blanco-Kelly F, Perez-Carro R, Rodriguez-Jacy da Silva L, Almoguera B, Garcia-Sandoval B, López-Molina MI, Avila-Fernandez A , Carballo M , Corton M, Ayuso C. Referencias del PRPF31 Gene en Español Autosomal Dominante Retinitis Pigmentosa Patientes: A Novel Genomic Rearrangement. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1045-1053. doi: 10.1167/iovs.16-20515 . PMID: 28192796. Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O’Callaghan M, Garcia-Cazorla À, Pinar M, Armstrong J; Rett Working Group . El uso de Next Generation Sequencing for molecular diagnostics in Rett syndrome. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3 . Erratum in: Sci Rep. 2021 Sep 7;11(1):18146. PMID: 28947817; PMCID: PMC5613000. Mateos-Muñoz B, García-Martín E, Torrejón MJ, Dehesa-Medina MJ, Esguevillas G, Cárdenas MC, Fernández C, Carballo M , Agúndez JA, Ladero JM. GC Gene Polymorphism and Unbound Sérum Retinol-Binding Protein 4 Are Related to the Risk of Insulin Resistance in Patients With Chronic Hepatitis C: A Prospective Cross-Sectional Study. Medicine (Baltimore). 2016 Mar;95(10):e3019. doi: 10.1097/MD.000000000003019 . PMID: 26962819; PMCID: PMC4998900.