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  • Ferro, P.; Ventura Alemany, Rosa; Pérez Mañá, Clara; Farré Albaladejo, Magí; Segura, Joan (Elsevier, 2016)
    Human Growth Hormone (hGH, somatotropin) is one of the relevant forbidden substances to be detected in sport drug testing. Since the appearance of recombinant hGH (rhGH) in the 80's, its expansion and availability through ...
  • Martínez Marigorta, Urko, 1983- (Universitat Pompeu Fabra, 2012-11-12)
    The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to develop new therapeutic ...
  • Duran, Joan; Sánchez Olavarría, Pilar; Mola Caminal, Marina; Götzens, Víctor; Carballo, Julio; Martín Pelegrina, Eva; Petit i Guinovart, Màrius; Abdul-Jawad, Omar; Otaegui, Imanol; García Blanco, Bruno; García-Dorado, David; Reig, Josep; Cordero, Alex; Anta, Josep Maria (BioMed Central, 2015)
    BACKGROUND:/nCollateral growth in patients with coronary artery disease (CAD) is highly heterogeneous. Although multiple factors are thought to play a role in collateral development, the contribution of genetic factors to ...
  • Pattaro, Cristian; Friedrich, Nele; Elosua Llanos, Roberto; Lucas, Gavin, 1977- (Nature Publishing Group, 2016)
    Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular ...
  • Lalueza Fox, Carles, 1965-; Gigli, Elena, 1978-; Rasilla Vives, Marco de la; Fortea, Javier; Rosas, Antonio; Bertranpetit, Jaume, 1952-; Krause, Johannes (BioMed Central, 2008)
    Background: The high polymorphism rate in the human ABO blood group gene seems to be related to susceptibility to different pathogens. It has been estimated that all genetic variation underlying the human ABO alleles ...
  • Llobet Reixach, Laura (2014)
    The genetic bases of complex traits are a challenging matter of study, given the/ncomplexity of the underlying regulation. High-throughput technologies enable collecting/ndata about cellular traits, such as gene expression, ...
  • Gardner, Michelle (Universitat Pompeu Fabra, 2007-06-25)
    El treball presentat en aquesta tesi és un estudi de la diversitat genètica en un conjunt de gens implicats en funcions neurològiques ("Gens cerebrals"). Hom ha examinat vint-i-dos gens implicats en els sistemes de ...
  • Chen, Lu; Garrido-Martín, Diego; Guigó Serra, Roderic; Soranzo, Nicole (Elsevier, 2016)
    Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic ...
  • Haber, Marc, 1980-; Mezzavilla, Massimo; Xue, Yali; Comas, David, 1969-; Gasparini, Paolo; Zalloua, Pierre A; Tyler-Smith, Chris (Nature Publishing Group, 2015)
    The Armenians are a culturally isolated population who historically inhabited a region in the Near East bounded by the Mediterranean and Black seas and the Caucasus, but remain under-represented in genetic studies and have ...
  • Lluís Ganella, Carla, 1984- (Universitat Pompeu Fabra, 2012-06-26)
    The main expansion of the discovery of genetic variants associated with complex diseases has occurred during the last decade. This expansion has been accompanied, and in some sense motivated, by the desire to use this ...
  • Kushniarevich, Alena; Genographic Consortium; Bertranpetit, Jaume, 1952-; Balanovsky, Oleg (Public Library of Science (PLoS), 2015)
    The Slavic branch of the Balto-Slavic sub-family of Indo-European languages underwent rapid divergence as a result of the spatial expansion of its speakers from Central-East Europe, in early medieval times. This expansion–mainly ...
  • Bekada, Asmahan; Arauna, Lara R; Deba, Tahria; Calafell i Majó, Francesc; Benhamamouch, Soraya; Comas, David, 1969- (Public Library of Science (PLoS), 2015)
    The demographic history of human populations in North Africa has been characterized by complex processes of admixture and isolation that have modeled its current gene pool. Diverse genetic ancestral components with different ...
  • 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, 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, 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, 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 ...