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  • Reich, David; Marquès i Bonet, Tomàs, 1975-; Pääbo, Svante (Nature Publishing Group, 2010)
    Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin ...
  • de Valles-Ibáñez, Guillem; Hernández Rodríguez, Jessica; Prado Martínez, Javier, 1987-; Luisi, Pierre, 1985-; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran (Oxford University Press, 2016)
    Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species ...
  • Mendizábal Eceizabarrena, Isabel, 1981-; Sandoval Mendoza, Karla; Berniell Lee, Gemma; Calafell i Majó, Francesc; Salas, Antonio; Martínez Fuentes, Antonio; Comas, David, 1969- (BioMed Central, 2008)
    Background: Before the arrival of Europeans to Cuba, the island was inhabited by two Native American groups, the Tainos and the Ciboneys. Most of the present archaeological, linguistic and ancient DNA evidence indicates a ...
  • Bruzzoni-Giovanelli, Heriberto; González Ruiz, Juan Ramón; Sigaux, François; Villoutreix, Bruno O.; Cayuela, Jean Michel; Guilho, Joëlle; Preudhomme, Claude; Guilhot, François; Poyet, Jean-Luc; Rousselot, Philippe (Impact Journals, 2015)
    Little is known about inherited factors associated with the risk of developing chronic myelogenous leukemia (CML). We used a dedicated DNA chip containing 16 561 single nucleotide polymorphisms (SNPs) covering 1 916 candidate ...
  • Kalaydjieva, Luba; Gresham, David; Calafell i Majó, Francesc (BioMed Central, 2001)
    Background: Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder ...
  • Abulí, Anna; Castells, Antoni; Bujanda, Luis; Lozano, Juan José; Bessa, Xavier; Hernández Rodríguez, Cristina; Alvarez Urturi, Cristina; Pellisé, Maria; Esteban Jurado, Clara; Hijona, Elizabeth; Burón, Andrea; Macià Guilà, Francesc Assís; Grau, Jaume; Guayta, Rafael; Castellví Bel, Sergi; Andreu García, Montserrat; PROCOLON research group (Public Library of Science, 2016)
    BACKGROUND: Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk. AIM: To determine if these genetic variants are associated also with adenoma susceptibility and may improve ...
  • Morales, Eva; Bustamante Pineda, Mariona; González Ruiz, Juan Ramón; Guxens, Mònica; Torrent Quetglas, Maties; Mendez, Michelle A.; García Esteban, Raquel; Júlvez Calvo, Jordi; Forns i Guzman, Joan, 1981-; Vrijheid, Martine; Molto Puigmarti, Carolina; López Sabater, M. Carmen; Estivill, Xavier, 1955-; Sunyer Deu, Jordi (Public Library of Science (PLoS), 2011)
    Introduction: Breastfeeding effects on cognition are attributed to long-chain polyunsaturated fatty acids (LC-PUFAs), but controversy persists. Genetic variation in fatty acid desaturase (FADS) and elongase (ELOVL) enzymes ...
  • Codina i Solà, Marta, 1988- (Universitat Pompeu Fabra, 2016-07-14)
    The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific ...
  • Soldevila Trepat, Marta (Universitat Pompeu Fabra, 2005-06-20)
    En el gen de la proteïna priònica, o PRNP, hem observat que el particular patró de variació que hem trobat basant-nos en dades de seqüenciació en humans es deu a selecció positiva, i que el mètode utilitzat per detectar ...
  • Pineda, Silvia; Milne, Roger L.; Calle, M. Luz; Rothman, Nathaniel; López De Maturana, Evangelina; Herranz, Jesús; Kogevinas, Manolis; Chanock, Stephen J.; Tardón, Adonina; Márquez, Mirari; Guey, Lin T.; García Closas, Montserrat; Lloreta, Josep; Baum, Erin; González Neira, Anna; Carrato, Alfredo; Navarro i Cuartiellas, Arcadi, 1969-; Silverman, Debra T.; Real, Francisco X.; Malats i Riera, Núria (Public Library of Science (PLoS), 2014)
    Introduction: Germline variants in TP63 have been consistently associated with several tumors, including bladder cancer, indicating the importance of TP53 pathway in cancer genetic susceptibility. However, variants in other ...
  • Henríquez Hernández, Luis Alberto; Valenciano, Almudena; Foro Arnalot, Palmira; Álvarez Cubero, María Jesús; Cozar, José Manuel; Suárez Novo, José Francisco; Castells Esteve, Manel; Fernández Gonzalo, Pablo; De-Paula Carranza, Belén; Ferrer Forés, Maria Montserrat; Guedea, Ferrán; Sancho-Pardo, Gemma; Craven-Bartle, Jordi; Ortiz Gordillo, María José; Cabrera Roldán, Patricia; Rodríguez Melcón, Juan Ignacio; Herrera Ramos, Estefanía; Rodríguez Gallego, Carlos; Lara, Pedro C. (Elsevier, 2015)
    BACKGROUND: Prostate cancer (PCa) is an androgen-dependent disease. Nonetheless, the role of single nucleotide polymorphisms (SNPs) in genes encoding androgen metabolism remains an unexplored area. PURPOSE: To investigate ...
  • Serra Juhé, Clara, 1984- (Universitat Pompeu Fabra, 2012-10-20)
    Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information ...
  • Aigner, Johanna, 1981- (Universitat Pompeu Fabra, 2013-11-25)
    La família B7 de proteïnes és àmpliament reconeguda per jugar un paper important en els processos inflamatoris mitjançant l'alteració de la capacitat de resposta de les cèl•lules T. La unió d’aquestes proteïnes als seus ...
  • Robledo, Patrícia, 1958-; Martín García, Elena, 1975-; Aso Pérez, Ester; Maldonado, Rafael, 1961- (Bentham Science Publishers, 2014)
    The pathophysiological mechanisms underlying depression are still poorly understood. An initial hypothesis postulated to explain the substrates of depression was based on the involvement of monoaminergic systems. This early ...
  • Gebauer, Fátima; Hentze, Matthias W. (American Association for the Advancement of Science (AAAS), 2016)
    Comment on Comparative genetics. Systematic discovery of cap-independent translation sequences in human and viral genomes. [Science. 2016]
  • Universitat Pompeu Fabra. Facultat de Ciències de la Salut i de la Vida (Universitat Pompeu Fabra, 2011-11-22)
  • Universitat Pompeu Fabra. Facultat de Ciències de la Salut i de la Vida (Universitat Pompeu Fabra, 2012-06-05)
  • Cabré, Oriol (Quark, 1996-01-13)
  • Luca Cavalli-Sforza, Luigi (Quark, 1999-01-11)