Works matching AU Estivill, Xavier


Results: 180
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    Actionable genomic variants in 6045 participants from the Qatar Genome Program.

    Published in:
    Human Mutation, 2021, v. 42, n. 12, p. 1584, doi. 10.1002/humu.24278
    By:
    • Elfatih, Amal;
    • Mifsud, Borbala;
    • Syed, Najeeb;
    • Badii, Ramin;
    • Mbarek, Hamdi;
    • Abbaszadeh, Fatemeh;
    • Estivill, Xavier;
    • Ismail, Said;
    • Al‐Muftah, Wadha;
    • Badji, Radja;
    • Darwish, Dima;
    • Fadl, Tasnim;
    • Yasin, Heba;
    • Ennaifar, Maryem;
    • Abdel‐latif, Rania;
    • Alkuwari, Fatima;
    • Alvi, Muhammad;
    • Sarraj, Yasser Al;
    • Saad, Chadi;
    • Althani, Asmaa
    Publication type:
    Article
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    An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.

    Published in:
    Human Mutation, 2008, v. 29, n. 1, p. 130, doi. 10.1002/humu.20617
    By:
    • Guipponi, Michel;
    • Toh, Min-Yen;
    • Tan, Justin;
    • Park, Daeho;
    • Hanson, Kelly;
    • Ballana, Ester;
    • Kwong, David;
    • Cannon, Ping Z.F.;
    • Wu, Qingyu;
    • Gout, Alex;
    • Delorenzi, Mauro;
    • Speed, Terence P.;
    • Smith, Richard J.H.;
    • Dahl, Henrik H.;
    • Petersen, Michael;
    • Teasdale, Rohan D.;
    • Estivill, Xavier;
    • Park, Woo Jin;
    • Scott, Hamish S.
    Publication type:
    Article
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    Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects.

    Published in:
    Amino Acids, 2012, v. 43, n. 2, p. 897, doi. 10.1007/s00726-011-1149-y
    By:
    • Gallego, Xavier;
    • Molas, Susanna;
    • Amador-Arjona, Alejandro;
    • Marks, Michael;
    • Robles, Noemí;
    • Murtra, Patricia;
    • Armengol, Lluís;
    • Fernández-Montes, Rubén;
    • Gratacòs, Mònica;
    • Pumarola, Martí;
    • Cabrera, Roberto;
    • Maldonado, Rafael;
    • Sabrià, Josefa;
    • Estivill, Xavier;
    • Dierssen, Mara
    Publication type:
    Article
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    CFTR and asthma in the French EGEA study.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 1, p. 67, doi. 10.1038/sj.ejhg.5200578
    By:
    • de Cid, Rafael;
    • Chomel, Jean-Claude;
    • Lazaro, Conxi;
    • Sunyer, Jordi;
    • Baudis, Marlene;
    • Casals, Teresa;
    • Le Moual, Nicole;
    • Kitzis, Alain;
    • Feingold, Josue;
    • Anto, Josep;
    • Estivill, Xavier;
    • Kauffmann, Francine
    Publication type:
    Article
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    Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk.

    Published in:
    PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193527
    By:
    • Rubio, Mercedes;
    • Bustamante, Mariona;
    • Hernandez-Ferrer, Carles;
    • Fernandez-Orth, Dietmar;
    • Pantano, Lorena;
    • Sarria, Yaris;
    • Piqué-Borras, Maria;
    • Vellve, Kilian;
    • Agramunt, Silvia;
    • Carreras, Ramon;
    • Estivill, Xavier;
    • Gonzalez, Juan R.;
    • Mayor, Alfredo
    Publication type:
    Article
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    Genome assembly comparison identifies structural variants in the human genome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 12, p. 1413, doi. 10.1038/ng1921
    By:
    • Khaja, Razi;
    • Zhang, Junjun;
    • MacDonald, Jeffrey R.;
    • Yongshu He;
    • Joseph-George, Ann M.;
    • Wei, John;
    • Rafiq, Muhammad A.;
    • Cheng Qian;
    • Shago, Mary;
    • Pantano, Lorena;
    • Aburatani, Hiroyuki;
    • Jones, Keith;
    • Redon, Richard;
    • Hurles, Matthew;
    • Armengol, Lluis;
    • Estivill, Xavier;
    • Mural, Richard J.;
    • Lee, Charles;
    • Scherer, Stephen W.;
    • Feuk, Lars
    Publication type:
    Article
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    Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

    Published in:
    Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612
    By:
    • Grifa, Anna;
    • Wagner, Carsten A.;
    • D'Ambrosio, Lucrezia;
    • Melchionda, Salvatore;
    • Bernardi, Francesco;
    • Lopez-Bigas, Nuria;
    • Rabionet, Raquel;
    • Arbones, Mariona;
    • Monica, Matteo Della;
    • Estivill, Xavier;
    • Zelante, Leopoldo;
    • Lang, Florian;
    • Gasparini, Paolo
    Publication type:
    Article
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    Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.

    Published in:
    BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-12
    By:
    • Solé, Xavier;
    • Hernández, Pilar;
    • de Heredia, Miguel López;
    • Armengol, Lluís;
    • Rodríguez-Santiago, Benjamín;
    • Gómez, Laia;
    • Maxwell, Christopher A.;
    • Aguiló, Fernando;
    • Condom, Enric;
    • Abril, Jesús;
    • Pérez-Jurado, Luis;
    • Estivill, Xavier;
    • Nunes, Virginia;
    • Capellá, Gabriel;
    • Gruber, Stephen B.;
    • Moreno, Víctor;
    • Pujana, Miguel Angel
    Publication type:
    Article
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    Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.

    Published in:
    eLife, 2022, p. 1, doi. 10.7554/eLife.65310
    By:
    • Ruiz-Arenas, Carlos;
    • Hernandez-Ferrer, Carles;
    • Vives-Usano, Marta;
    • Marí, Sergi;
    • Quintela, Ines;
    • Mason, Dan;
    • Cadiou, Solène;
    • Casas, Maribel;
    • Andrusaityte, Sandra;
    • Gutzkow, Kristine Bjerve;
    • Vafeiadi, Marina;
    • Wright, John;
    • Lepeule, Johanna;
    • Grazuleviciene, Regina;
    • Chatzi, Leda;
    • Carracedo, Ángel;
    • Estivill, Xavier;
    • Marti, Eulàlia;
    • Escaramís, Geòrgia;
    • Vrijheid, Martine
    Publication type:
    Article
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    Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.

    Published in:
    eLife, 2022, p. 1, doi. 10.7554/eLife.65310
    By:
    • Ruiz-Arenas, Carlos;
    • Hernandez-Ferrer, Carles;
    • Usano, Marta Vives;
    • Marí, Sergi;
    • Quintela, Ines;
    • Mason, Dan;
    • Cadiou, Solène;
    • Casas, Maribel;
    • Andrusaityte, Sandra;
    • Gutzkow, Kristine Bjerve;
    • Vafeiadi, Marina;
    • Wright, John;
    • Lepeule, Johanna;
    • Grazuleviciene, Regina;
    • Chatzi, Leda;
    • Carracedo, Ángel;
    • Estivill, Xavier;
    • Marti, Eulàlia;
    • Escaramís, Geòrgia;
    • Vrijheid, Martine
    Publication type:
    Article
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    Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05480-9
    By:
    • Domènech, Laura;
    • Willis, Jesse;
    • Alemany-Navarro, Maria;
    • Morell, Marta;
    • Real, Eva;
    • Escaramís, Geòrgia;
    • Bertolín, Sara;
    • Sánchez Chinchilla, Daniel;
    • Balcells, Susanna;
    • Segalàs, Cinto;
    • Estivill, Xavier;
    • Menchón, Jose M.;
    • Gabaldón, Toni;
    • Alonso, Pino;
    • Rabionet, Raquel
    Publication type:
    Article
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    Fat Mass and Obesity-Associated Gene (FTO) in Eating Disorders: Evidence for Association of the rs9939609 Obesity Risk Allele with Bulimia nervosa and Anorexia nervosa.

    Published in:
    Obesity Facts: The European Journal of Obesity, 2012, v. 5, n. 3, p. 408, doi. 10.1159/000340057
    By:
    • Müller, Timo D.;
    • Greene, Brandon H.;
    • Bellodi, Laura;
    • Cavallini, Maria C.;
    • Cellini, Elena;
    • Di Bella, Daniela;
    • Ehrlich, Stefan;
    • Erzegovesi, Stefano;
    • Estivill, Xavier;
    • Fernández-Aranda, Fernando;
    • Fichter, Manfred;
    • Fleischhaker, Christian;
    • Scherag, Susann;
    • Gratacòs, Monica;
    • Grallert, Harald;
    • Herpertz-Dahlmann, Beate;
    • Herzog, Wolfgang;
    • Illig, Thomas;
    • Lehmkuhl, Ulrike;
    • Nacmias, Benedetta
    Publication type:
    Article
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