Browsing by Author "Cáceres Aguilar, Mario"

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  • Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events
    Bosch Pagès, Nina; Cáceres Aguilar, Mario; Cardone, Maria Francesca; Carreras, Anna; Ballana Guix, Ester; Rocchi, Mariano; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Oxford University Press, 2007)
    Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements. Part of the difficulty ...
  • Evolutionary and functional impact of common polymorphic inversions in the human genome
    Giner Delgado, Carla; Villatoro, Sergi; Lerga Jaso, Jon; Gayà Vidal, Magdalena; Oliva, Meritxell; Castellano Esteve, David; Pantano Rubiño, Lorena, 1982-; Bitarello, Bárbara D.; Izquierdo, David; Noguera, Isaac; Olalde Marquínez, Íñigo, 1987-; Delprat, Alejandra; Blancher, Antoine; Lalueza Fox, Carles, 1965-; Esko, Tõnu; O'Reilly, Paul F.; Andrés Morán, Aida, 1976-; Ferretti, Luca; Puig, Marta; Cáceres Aguilar, Mario (Nature Research, 2019)
    Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to ...
  • InvFEST, a database integrating information of polymorphic inversions in the human genome
    Martínez Fundichely, Alexander, 1978-; Casillas, Sònia; Egea, Raquel; Ràmia, Miquel; Barbadilla, Antonio; Pantano Rubiño, Lorena, 1982-; Puig, Marta; Cáceres Aguilar, Mario (Oxford University Press, 2014)
    The newest genomic advances have uncovered an unprecedented degree of structural variation throughout genomes, with great amounts of data accumulating rapidly. Here we introduce InvFEST (http://invfestdb.uab.cat), a database ...
  • Irreversible electroporation of the liver: is there a safe limit to the ablation volume?
    Sánchez-Velázquez, Joan; Castellví Fernández, Quim; Villanueva, Alberto; Quesada Diez, Rita; Pañella Vilamú, Clara, 1987-; Cáceres Aguilar, Mario; Dorcaratto, Dimitri; Andaluz, Anna; Moll, Xavier; Trujillo Guillén, Macarena; Burdío, José M.; Berjano, Enrique J.; Grande Posa, Luís; Ivorra Cano, Antoni, 1974-; Burdío Pinilla, Fernando (Nature Publishing Group, 2016-04-01)
    Irreversible electroporation is a fast-growing liver ablation technique. Although safety has been well documented in small ablations, our aim is to assess its safety and feasibility when a large portion of liver is ablated. ...
  • Long-term effectiveness of irreversible electroporation in a murine model of colorectal liver metastasis
    Ivorra Cano, Antoni, 1974-; Sánchez Velázquez, Patricia, 1985-; Castellví Fernández, Quim; Villanueva, Alberto; Iglesias Coma, Mar; Quesada Diez, Rita; Pañella Vilamú, Clara, 1987-; Cáceres Aguilar, Mario; Dorcaratto, Dimitri; Andaluz, Anna; Moll, Xavier; Burdío, José M.; Grande Posa, Luís; Burdío Pinilla, Fernando (Nature Publishing Group, 2017)
    Irreversible electroporation (IRE) has recently gained in popularity as an ablative technique, however little is known about its oncological long-term outcomes. To determine the long-time survival of animals treated with ...
  • PeSV-Fisher: identification of somatic and non-somatic structural variants using nextgeneration sequencing data
    Escaramís, Geòrgia; Tornador Antolin, Cristian, 1979-; Bassaganyas Bars, Laia, 1985-; Rabionet, Raquel; Tubio, José M. C.; Martínez Fundichely, Alexander, 1978-; Cáceres Aguilar, Mario; Gut, Marta; Ossowski, Stephan; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)
    Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the ...
  • The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
    Prado Martínez, Javier, 1987-; Hernando Herráez, Irene, 1985-; Lorente-Galdós, Belén, 1981-; Dabad, Marc; Ramírez, Oscar; Baeza Delgado, Carlos; Morcillo Suárez, Carlos, 1969-; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernández Callejo, Marcos; Vallès, Mònica; Ritscher, Lars; Schöneberg, Torsten; Calle Mustienes, Elisa de la; Casillas, Sònia; Rubio Acero, Raquel; Melé Messeguer, Marta, 1982-; Engelken, Johannes; Cáceres Aguilar, Mario; Gómez Skarmeta, José Luis; Gut, Marta; Bertranpetit, Jaume, 1952-; Gut, Ivo Glynne; Abelló, Teresa; Eichler, Evan E.; Mingarro, Ismael; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975- (BioMed Central, 2013)
    BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous ...
  • Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence
    Aguado, Cristina; Gayà Vidal, Magdalena; Villatoro, Sergi; Oliva, Meritxell; Izquierdo, David; Giner Delgado, Carla; Montalvo, Víctor; García González, Judit; Martínez Fundichely, Alexander, 1978-; Capilla, Laia; Ruiz Herrera, Aurora; Estivill, Xavier, 1955-; Puig, Marta; Cáceres Aguilar, Mario (Public Library of Science (PLoS), 2014)
    In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult ...
  • Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders
    Bassaganyas Bars, Laia, 1985-; Riveira Muñoz, Eva; García Aragonés, Manel; González Ruiz, Juan Ramón; Cáceres Aguilar, Mario; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (BioMed Central, 2013)
    Background: There is increasing evidence of the importance of copy number variants (CNV) in genetic diversity among individuals and populations, as well as in some common genetic diseases. We previously characterized a ...

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