• A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome 

      Torrado, Mario; Maneiro, Emilia; Trujillo-Quintero, Juan Pablo; Evangelista, Arturo; Mikhailov, Alexander T.; Monserrat, Lorenzo (Hindawi, 2018)
      [Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ...
    • MicroARN circulantes en sangre de pacientes con cáncer de próstata 

      Medina Villaamil, Vanessa; Martínez-Breijo, S.; Portela-Pereira, P.; Quindós-Varela, María; Santamarina, Isabel; Antón-Aparicio, Luis M.; Gómez Veiga, Francisco (Elsevier, 2014)
      [Resumen] Introducción. Los microARN (miARN) son ARN reguladores de pequeño tamaño que no codifican para proteínas. La detección de células tumorales circulantes (CTC) proporcionaría información diagnóstica y pronóstica ...
    • Study on Relevant Features in COVID-19 PCR Tests 

      Vidal, Plácido; Moura, Joaquim de; Ramos, Lucía; Novo Buján, Jorge; Ortega Hortas, Marcos (MDPI AG, 2020-08-26)
      [Abstract] In the year 2020, the world suffered the effects of a global pandemic. COVID-19 is a disease that mainly affects the respiratory system of patients, even causing a disproportionate response of the immune system ...