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124 results

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Peripheral T-cell lymphoma: molecular profiling recognizes subclasses and identifies prognostic markers.
Rodríguez M, Alonso-Alonso R, Tomás-Roca L, Rodríguez-Pinilla SM, Manso-Alonso R, Cereceda L, Borregón J, Villaescusa T, Córdoba R, Sánchez-Beato M, Fernández-Miranda I, Betancor I, Bárcena C, García JF, Mollejo M, García-Cosio M, Martin-Acosta P, Climent F, Caballero D, de la Fuente L, Mínguez P, Kessler L, Scholz C, Gualberto A, Mondéjar R, Piris MA. Rodríguez M, et al. Among authors: minguez p. Blood Adv. 2021 Dec 28;5(24):5588-5598. doi: 10.1182/bloodadvances.2021005171. Blood Adv. 2021. PMID: 34592752 Free PMC article.
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.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF, Perea-Romero I, Núñez-Moreno G, de la Fuente L, Romero R, Ávila-Fernandez A, Trujillo-Tiebas MJ, Riveiro-Álvarez R, Almoguera B, Martín-Mérida I, Del Pozo-Valero M, Damián-Verde A, Cortón M, Ayuso C, Minguez P. Iancu IF, et al. Among authors: minguez p. Int J Mol Sci. 2022 Jul 29;23(15):8431. doi: 10.3390/ijms23158431. Int J Mol Sci. 2022. PMID: 35955564 Free PMC article.
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. Among authors: minguez p. 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.
Serum microRNAs Catalog Asthma Patients by Phenotype.
Gil-Martínez M, Rodrigo-Muñoz JM, Sastre B, Cañas JA, García-Latorre R, Redondo N, de la Fuente L, Mínguez P, Mahíllo-Fernández I, Sastre J, Quirce S, Caballero ML, Olaguibel JM, Del Pozo V. Gil-Martínez M, et al. Among authors: minguez p. J Investig Allergol Clin Immunol. 2022 Dec 15;32(6):471-478. doi: 10.18176/jiaci.0753. Epub 2022 Jul 9. J Investig Allergol Clin Immunol. 2022. PMID: 34489228 Free 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: minguez p. Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713. Int J Mol Sci. 2021. PMID: 34884523 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: minguez p. 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.
SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations.
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-Ruíz R, Cortón M, López-Rodríguez R, García-Crespo C, Somovilla P, Durán-Pastor A, Gallego I, de Ávila AI, Delgado S, Morán F, López-Galíndez C, Gómez J, Enjuanes L, Salar-Vidal L, Esteban-Muñoz M, Esteban J, Fernández-Roblas R, Gadea I, Ayuso C, Ruíz-Hornillos J, Verdaguer N, Domingo E, Perales C. Martínez-González B, et al. Among authors: minguez p. Pathogens. 2022 Jun 8;11(6):662. doi: 10.3390/pathogens11060662. Pathogens. 2022. PMID: 35745516 Free PMC article.
124 results