Now showing items 1-11 of 11

    • An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures 

      Collord, Grace; Tarpey, Patrick; Kurbatova, Natalja; Martincorena, Inigo; Morán, Sebastián; Castro, Manuel; Nagy, Tibor; Bignell, Graham; Maura, Francesco; Young, Matthew D.; Berna, Jorge; Castro Tubío, José Manuel; McMurran, Chris E.; Young, Adam M.H.; Sanders, Mathijs; Noorani, Imran; Price, Stephen J.; Watts, Colin; Leipnitz, Elke; Kirsch, Matthias; Schackert, Gabriele; Pearson, Danita; Devadass, Abel; Ram, Zvi; Collins, V. Peter; Allinson, Kieren; Jenkinson, Michael D.; Zakaria, Rasheed; Syed, Khaja; Hanemann, C. Oliver; Dunn, Jemma; McDermott, Michael W.; Kirollos, Ramez W.; Vassiliou, George S.; Esteller, Manel; Behjati, Sam; Brazma, Alvis; Santarius, Thomas; McDermott, Ultan (Nature Publishing Group, 2018)
      Anaplastic meningioma is a rare and aggressive brain tumor characterised by intractable recurrences and dismal outcomes. Here, we present an integrated analysis of the whole genome, transcriptome and methylation profiles ...
    • Assessment of genotyping tools applied in genetic susceptibility studies of periodontal disease: A systematic review 

      Coo Diz, Alicia de; Quintela García, Inés; Diz Dios, Pedro; Carracedo Álvarez, Ángel María (Elsevier, 2018-04-25)
      Objective: A systematic review to evaluate the various genotyping tools and study strategies employed to define genetic susceptibility to periodontitis. Methods: The review was performed in accordance with Preferred ...
    • De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis 

      Alonso González, Aitana; Rodríguez Fontenla, María Cristina; Carracedo Álvarez, Ángel María (Frontiers Media, 2018-09-21)
      Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized ...
    • Etiología e importancia de la alimentación en la Enfermedad de Crohn 

      Díaz Boada, Olalla (2017)
      [ES]En esta revisión bibliográfica se intenta agrupar información interesante acerca de distintos aspectos relacionados con la Enfermedad de Crohn (EC), la cual forma parte del grupo de las Enfermedades Inflamatorias ...
    • Genomic continuity of Argentinean Mennonites 

      Pardo Seco, Jacobo José; Llull, Cintia; Berardi, Gabriela; Gómez, Andrea; Martinón Torres, Federico; Toscanini, Ulises; Salas Ellacuriaga, Antonio (Nature Publishing Group, 2016-11-08)
      Mennonites are Anabaptist communities that originated in Central Europe about 500 years ago. They initially migrated to different European countries, and in the early 18th century they established their first communities ...
    • Multidisciplinary approach to the transfection of plasmid DNA by a nonviral nanocarrier based on a Gemini-Bolaamphiphilic hybrid lipid 

      Martínez Negro, María; Guerrero Martínez, Andrés; García Río, Luis; Domènech, Òscar; Aicart, Emilio; Tros de Ilarduya, Conchita; Junquera, Elena (American Chemical Society, 2018)
      A multidisciplinary strategy, including bothbiochemical and biophysical studies, was proposed here toevaluate the potential of lipid nanoaggregates consisting of amixture of a gemini−bolaamphiphilic lipid (C6C22C6) and ...
    • Optimization of statistical and bioinformatic methods for the analysis of next generation sequencing data for rare disease diagnosis 

      Roca Otero, Iria (2020)
      The main focus of this thesis, presented as a compendium of research articles, is the optimization of the analysis of Next Generation Sequencing data in order to facilitate the diagnosis of rare diseases. For this goal, ...
    • Phylogeography of a widespread species: pre-glacial vicariance, refugia, occasional blocking straits and long-distance migrations 

      Santiso, Xabier; López, Lúa; Retuerto Franco, José Carlos Rubén; Barreiro, Rodolfo (Oxford University Press, 2016-01-14)
      Phylogeographic studies give us the opportunity to reconstruct the historical migrations of species and link them with climatic and geographic variation. They are, therefore, a key tool to understanding the relationships ...
    • SiRNA silencing by chemically modified biopolymeric nanovectors 

      Villar Álvarez, Eva María; Leal, Baltazar H.; Martínez González, Raquel; Pardo Montero, Alberto; Al-Qadi, Sonia; Juárez, Josué; Váldez, Miguel A.; Cambón Freire, Adriana; Barbosa Fernández, Silvia; Taboada Antelo, Pablo (American Chemical Society, 2019)
      The ability to specifically silence genes by RNA interference has an enormous potential for treating genetic diseases. However, different drawbacks such as short interfering RNA (siRNA) degradability by serum nucleases and ...
    • The complete mitogenome of a 500-year-old Inca child mummy 

      Gómez Carballa, Alberto; Catelli, María Laura; Pardo Seco, Jacobo José; Martinón Torres, Federico; Roewer, Lutz; Vullo, Carlos; Salas Ellacuriaga, Antonio (Nature Publishing Group, 2015)
      In 1985, a frozen mummy was found in Cerro Aconcagua (Argentina). Archaeological studies identified the mummy as a seven-year-old Inca sacrifice victim who lived >500 years ago, at the time of the expansion of the Inca ...
    • Thoracic aortic aneurysms and dissections: genetic analysis of Mendelian and complex cases 

      Gago Díaz, Marina (2017)
      The present doctoral thesis deals with the still partially unraveled genetic component of thoracic aortic aneurysms and dissections, a frequently asymptomatic but potentially lethal condition and major cause of sudden ...





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