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  • Montes Pérez, Antonio; Roca, Gisela; Sabaté, Sergi; Lao, Jose Ignacio; Navarro i Cuartiellas, Arcadi, 1969-; Cantillo, Jordi; Canet, Jaume; GENDOLCAT Study Group (Lippincott, Williams & Wilkins, 2015)
    BACKGROUND: Chronic postsurgical pain (CPSP) has been linked to many surgical settings. The authors aimed to analyze functional genetic polymorphisms and clinical factors that might identify CPSP risk after inguinal hernia ...
  • Castro Giner, Francesc (Universitat Pompeu Fabra, 2009-11-20)
    L'asma és una malaltia d'etiologia complexa, formada per factors genètics i ambientals, on la interrelació de ambdós factors mitjançant interaccions gen-ambient juga un paper clau. L'objectiu d'aquesta tesi ha sigut ...
  • Homs, Aïda; Codina Solà, Marta; Rodríguez Santiago, Benjamín; Villanueva, CM .; Monk, Dave; Cuscó, Ivon; Pérez Jurado, Luis Alberto (Nature Publishing Group, 2016)
    Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is ...
  • Rubio Pérez, Carlota; Güney, Emre, 1983-; Aguilar, Daniel; Piñero González, Janet, 1977-; García-García, Javier, 1982-; Iadarola, Barbara; Sanz, Ferran; Fernández Fuentes, Narcís; Furlong, Laura I., 1971-; Oliva Miguel, Baldomero (Nature Publishing Group, 2017)
    Understanding relationships between diseases, such as comorbidities, has important socio-economic implications, ranging from clinical study design to health care planning. Most studies characterize disease comorbidity using ...
  • Solé, Xavier; Hernández, Pilar; López de Heredia, Miguel de; Armengol i Dulcet, Lluís; Rodríguez Santiago, Benjamín; Gómez, Laia; Maxwell, Christopher A.; Aguilo, Fernando; Condom, Enric; Abril, Jesús; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Nunes, Virginia; Capellá, Gabriel; Gruber, Stephen B.; Moreno, Víctor; Pujana, Miguel Angel (BioMed Central, 2008)
    Background: Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects of this type of variation may be important when considering susceptibility to common genetic ...
  • Tajuddin, Salman Muhammad; Amaral, André F.S.; Fernández, Agustín F; Rodriguez Rodero, Sandra; Rodríguez, Ramón María; Moore, Lee E.; Tardón, Adonina; Carrato, Alfredo; García Closas, Montserrat; Silverman, Debra T.; Jackson, Brian P.; García Closas, Reina; Cook, Ashley L.; Cantor, Kenneth P; Chanock, Stephen J.; Kogevinas, Manolis; Rothman, Nathaniel; Real, Francisco X.; Malats i Riera, Núria (National Institute of Environmental Health Sciences (NIEHS), 2013)
    Background: Altered DNA methylation has been associated with various diseases. Objective: We evaluated the association between levels of methylation in leukocyte DNA at long interspersed nuclear element 1 (LINE-1) and ...
  • 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 ...
  • Mandage, Rajendra; Telford, Marco; Rodríguez, Juan Antonio; Farré, Xavier; Layouni, Hafid; Marigorta, Urko M.; Cundiff, Caitlin; Heredia Genestar, José María; Navarro i Cuartiellas, Arcadi, 1969-; Santpere, Gabriel (Public Library of Science (PLoS), 2017)
    Epstein-Barr virus (EBV), human herpes virus 4, has been classically associated with infectious mononucleosis, multiple sclerosis and several types of cancers. Many of these diseases show marked geographical differences ...
  • 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 ...