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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R, Del Pozo-Valero M, Corton M, Minguez P, Ruiz-Hornillos J, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E, Villaverde C, Núñez-Moreno G, Romero R; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Almoguera B, Ayuso C. López-Rodríguez R, et al. Sci Rep. 2022 Jun 20;12(1):10369. doi: 10.1038/s41598-022-14035-x. Sci Rep. 2022. PMID: 35725860 Free PMC article.
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.
Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Lopez-Rodriguez R, Fernandez-Navarro P, Baca-García E, Fernandez-Piqueras J, Dal-Ré R, Abad-Santos F, Llerena A, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia. Almoguera B, et al. BMC Med Genet. 2011 Jun 9;12:81. doi: 10.1186/1471-2350-12-81. BMC Med Genet. 2011. PMID: 21658228 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. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts.
Utrero-Rico A, Ruiz-Hornillos J, González-Cuadrado C, Rita CG, Almoguera B, Minguez P, Herrero-González A, Fernández-Ruiz M, Carretero O, Taracido-Fernández JC, López-Rodriguez R, Corton M, Aguado JM, Villar LM, Ayuso-García C, Paz-Artal E, Laguna-Goya R. Utrero-Rico A, et al. J Allergy Clin Immunol. 2021 May;147(5):1652-1661.e1. doi: 10.1016/j.jaci.2021.02.021. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662370 Free PMC article. Clinical Trial.
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.
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I, Blanco-Kelly F, Sanchez-Navarro I, Lorda-Sanchez I, Tahsin-Swafiri S, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Lopez-Rodriguez R, Rodriguez de Alba M, Iancu IF, Romero R, Quinodoz M, Hakonarson H, Garcia-Sandova B, Minguez P, Corton M, Rivolta C, Ayuso C. Perea-Romero I, et al. Hum Genet. 2021 Dec;140(12):1665-1678. doi: 10.1007/s00439-021-02343-7. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34448047 Free PMC article.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Lopez-Rodriguez R, Lantero E, Blanco-Kelly F, Avila-Fernandez A, Martin Merida I, Del Pozo-Valero M, Perea-Romero I, Zurita O, Jiménez-Rolando B, Swafiri ST, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Carreño Salas E, García-Sandoval B, Corton M, Ayuso C. Lopez-Rodriguez R, et al. Exp Eye Res. 2021 Nov;212:108761. doi: 10.1016/j.exer.2021.108761. Epub 2021 Sep 4. Exp Eye Res. 2021. PMID: 34492281
High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease.
Soria ME, Cortón M, Martínez-González B, Lobo-Vega R, Vázquez-Sirvent L, López-Rodríguez R, Almoguera B, Mahillo I, Mínguez P, Herrero A, Taracido JC, Macías-Valcayo A, Esteban J, Fernandez-Roblas R, Gadea I, Ruíz-Hornillos J, Ayuso C, Perales C. Soria ME, et al. Access Microbiol. 2021 Sep 21;3(9):000259. doi: 10.1099/acmi.0.000259. eCollection 2021. Access Microbiol. 2021. PMID: 34712904 Free PMC article.
132 results