Visualitza per autor "González, Juan Ramón"

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  • Hernandez Ferrer, Carles; Quintela Garcia, Ines; Danielski, Katharina; Carracedo, Ángel; Pérez Jurado, Luis Alberto; González, Juan Ramón (BioMed Central , 2015)
    Background:The well-known Genome-Wide Association Studies (GWAS) had led to many scientific discoveriesusing SNP data. Even so, they were not able to explain the full heritability of complex diseases. Now, other ...
  • Mercader Bigas, Josep Maria; Ribasés, Marta; Gratacós Mayora, Mònica; González, Juan Ramón; Bayés, Mònica; Cid Ibeas, Rafael de; Badía, Anna; Fernández Aranda, Fernando; Estivill, Xavier, 1955- (John Wiley & Sons, 2007)
    Murine models and association studies in eating disorder (ED) patients have shown a role for the brain-derived neurotrophic factor (BDNF) in eating behavior. Some studies have shown association of BDNF -270C/T single-nucleotide ...
  • Cáceres, Alejandro; Esko, Tõnu; Pappa, Irene; Gutiérrez Arumí, Armand; Lopez-Espinosa, Maria-José; Llop, Sabrina; Bustamante Pineda, Mariona; Tiemeier, Henning; Metspalu, Andres; Joshi, Peter K.; Wilsonx, James F.; Reina-Castillón, Judith; Shin, Jean; Pausova, Zdenka; Paus, Tomáš; Sunyer Deu, Jordi; Pérez Jurado, Luis Alberto; González, Juan Ramón (Public Library of Science (PLoS) , 2016)
    The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, ...
  • Mercader Bigas, Josep Maria; Saus Martínez, Ester; Agüera, Zaida; Bayés, Mònica; Boni, Claudette; Carreras, Anna; Cellini, Elena; Cid Ibeas, Rafael de; Dierssen, Mara; Escaramís, Geòrgia; Fernández Aranda, Fernando; Forcano, Laura; Gallego, Xavier; González, Juan Ramón; Gorwood, Philip; Hebebrand, Johannes; Hinney, Anke; Nacmias, Benedetta; Puig, Anna; Ribasés, Marta; Ricca, Valdo; Romo, Lucía; Sorbi, Sandro; Versini, Audrey; Gratacós Mayora, Mònica; Estivill, Xavier, 1955- (Oxford University Press, 2008)
    Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal ...
  • Mercader Bigas, Josep Maria; Fernández Aranda, Fernando; Gratacós Mayora, Mònica; Ribasés, Marta; Badía, Anna; Villarejo, Cynthia; Solano, Raquel; González, Juan Ramón; Vallejo, Julio; Estivill, Xavier, 1955- (Karger (S. Karger AG), 2007)
    Background: Evidence of a role of brain-derived neurotrophic factor (BDNF) in the pathophysiology of eating disorders (ED) has been provided by association studies and by murine models. BDNF plasma levels have been found ...
  • Salas, Lucas A.; Bustamante Pineda, Mariona; González, Juan Ramón; Gracia Lavedan, Esther; Moreno, Víctor; Kogevinas, Manolis; Villanueva Belmonte, Cristina (Taylor & Francis, 2015)
    Trihalomethanes (THM) are undesired disinfection byproducts (DBPs) formed during water treatment. Mice exposed to DBPs showed global DNA hypomethylation and c-myc and c-jun gene-specific hypomethylation, while evidence of ...
  • Vilor-Tejedor, Natàlia; González, Juan Ramón; Calle, M. Luz (Institute of Electrical and Electronics Engineers (IEEE), 2016)
    The goal of Genome-wide Association Studies (GWAS) is the identification of genetic variants, usually Single Nucleotide Polymorphisms (SNPs), that are associated with disease risk. However, SNPs detected so far with GWAS ...
  • 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 ...
  • 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 ...
  • Ballana Guix, Ester; González, Juan Ramón; Bosch Pagès, Nina; Estivill, Xavier, 1955- (BioMed Central, 2007)
    Background: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The α-defensin cluster on human chromosome 8p23.1 ...
  • van der Valk, Ralf J.P.; Guxens, Mònica; Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium; Bustamante Pineda, Mariona; Estivill, Xavier, 1955-; González, Juan Ramón; Sunyer Deu, Jordi; Early Growth Genetics (EGG) Consortium (Oxford University Press, 2015)
    Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we ...
  • Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc; Flores Peirats, Raquel; González, Juan Ramón; Rodríguez Santiago, Benjamín; Argente, Jesús; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2017)
    Obesity is a multifactorial disorder with high heritability (50–75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy ...
  • Bassaganyas Bars, Laia, 1985-; Riveira Muñoz, Eva; García Aragonés, Manel; González, 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 ...