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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Romero R, de la Fuente L, Del Pozo-Valero M, Riveiro-Álvarez R, Trujillo-Tiebas MJ, Martín-Mérida I, Ávila-Fernández A, Iancu IF, Perea-Romero I, Núñez-Moreno G, Damián A, Rodilla C, Almoguera B, Cortón M, Ayuso C, Mínguez P. Romero R, et al. Among authors: minguez p. NPJ Genom Med. 2022 Jan 27;7(1):7. doi: 10.1038/s41525-021-00278-6. NPJ Genom Med. 2022. PMID: 35087072 Free PMC article.
Colon cancer modulation by a diabetic environment: A single institutional experience.
Prieto I, Del Puerto-Nevado L, Gonzalez N, Portal-Nuñez S, Zazo S, Corton M, Minguez P, Gomez-Guerrero C, Arce JM, Sanz AB, Mas S, Aguilera O, Alvarez-Llamas G, Esbrit P, Ortiz A, Ayuso C, Egido J, Rojo F, Garcia-Foncillas J; DiabetesCancerConnect Consortium. Prieto I, et al. Among authors: minguez p. PLoS One. 2017 Mar 2;12(3):e0172300. doi: 10.1371/journal.pone.0172300. eCollection 2017. PLoS One. 2017. PMID: 28253286 Free PMC article.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Sanchez-Navarro I, et al. Among authors: minguez p. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
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. Martin-Merida I, et al. Among authors: minguez p. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854. Invest Ophthalmol Vis Sci. 2018. PMID: 29847639
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. Among authors: minguez p. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 Free PMC article.
Molecular evidence of field cancerization initiated by diabetes in colon cancer patients.
Del Puerto-Nevado L, Minguez P, Corton M, Solanes-Casado S, Prieto I, Mas S, Sanz AB, Gonzalez-Alonso P, Villaverde C, Portal-Nuñez S, Aguilera O, Gomez-Guerrero C, Esbrit P, Vivanco F, Gonzalez N, Ayuso C, Ortiz A, Rojo F, Egido J, Alvarez-Llamas G, Garcia-Foncillas J; DiabetesCancerConnect Consortium. Del Puerto-Nevado L, et al. Among authors: minguez p. Mol Oncol. 2019 Apr;13(4):857-872. doi: 10.1002/1878-0261.12438. Epub 2019 Feb 16. Mol Oncol. 2019. PMID: 30628165 Free PMC article.
Diabetes-mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunction.
Del Puerto-Nevado L, Santiago-Hernandez A, Solanes-Casado S, Gonzalez N, Ricote M, Corton M, Prieto I, Mas S, Sanz AB, Aguilera O, Gomez-Guerrero C, Ayuso C, Ortiz A, Rojo F, Egido J, Garcia-Foncillas J, Minguez P, Alvarez-Llamas G; DiabetesCancerConnect Consortium. Del Puerto-Nevado L, et al. Among authors: minguez p. Mol Oncol. 2019 Sep;13(9):1887-1897. doi: 10.1002/1878-0261.12531. Epub 2019 Jul 27. Mol Oncol. 2019. PMID: 31199051 Free PMC article.
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. Among authors: minguez p. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.
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. Among authors: minguez p. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10.
Hervás-Salcedo R, Fernández-García M, Hernando-Rodríguez M, Quintana-Bustamante O, Segovia JC, Alvarez-Silva M, García-Arranz M, Minguez P, Del Pozo V, de Alba MR, García-Olmo D, Ayuso C, Lamana ML, Bueren JA, Yañez RM. Hervás-Salcedo R, et al. Among authors: minguez p. Stem Cell Res Ther. 2021 Feb 12;12(1):124. doi: 10.1186/s13287-021-02193-0. Stem Cell Res Ther. 2021. PMID: 33579367 Free PMC article.
124 results