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Page 1
Vaccine breakthrough infections with SARS-CoV-2 Alpha mirror mutations in Delta Plus, Iota, and Omicron.
Martínez-González B, Vázquez-Sirvent L, Soria ME, Mínguez P, Salar-Vidal L, García-Crespo C, Gallego I, de Ávila AI, Llorens C, Soriano B, Ramos-Ruiz R, Esteban J, Fernandez-Roblas R, Gadea I, Ayuso C, Ruíz-Hornillos J, Pérez-Jorge C, Domingo E, Perales C. Martínez-González B, et al. Among authors: ayuso c. J Clin Invest. 2022 May 2;132(9):e157700. doi: 10.1172/JCI157700. J Clin Invest. 2022. PMID: 35259127 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: ayuso c. 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: ayuso c. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 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: ayuso c. 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.
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF, Avila-Fernandez A, Arteche A, Trujillo-Tiebas MJ, Riveiro-Alvarez R, Almoguera B, Martin-Merida I, Del Pozo-Valero M, Perea-Romero I, Corton M, Minguez P, Ayuso C. Iancu IF, et al. Among authors: ayuso c. NPJ Genom Med. 2021 Feb 23;6(1):18. doi: 10.1038/s41525-021-00182-z. NPJ Genom Med. 2021. PMID: 33623043 Free PMC article.
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. Among authors: ayuso c. Access Microbiol. 2021 Sep 21;3(9):000259. doi: 10.1099/acmi.0.000259. eCollection 2021. Access Microbiol. 2021. PMID: 34712904 Free PMC article.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M. Damián A, et al. Among authors: ayuso c. Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713. Int J Mol Sci. 2021. PMID: 34884523 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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: ayuso c. 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.
SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes.
Martínez-González B, Soria ME, Vázquez-Sirvent L, Ferrer-Orta C, Lobo-Vega R, Mínguez P, de la Fuente L, Llorens C, Soriano B, Ramos R, Cortón M, López-Rodríguez R, García-Crespo C, Gallego I, de Ávila AI, Gómez J, Enjuanes L, Salar-Vidal L, Esteban J, Fernandez-Roblas R, Gadea I, Ayuso C, Ruíz-Hornillos J, Verdaguer N, Domingo E, Perales C. Martínez-González B, et al. Among authors: ayuso c. Microbiol Spectr. 2022 Apr 27;10(2):e0022122. doi: 10.1128/spectrum.00221-22. Epub 2022 Mar 29. Microbiol Spectr. 2022. PMID: 35348367 Free PMC article.
576 results