Browsing by Author Estivill, Xavier, 1955-

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Issue DateTitleAuthor(s)
3-Jan-2018Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal geneticsBeaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C.; Paternoster, Lavinia; Bradfield, Jonathan P.; Kreiner-Moller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L.; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J.; Espinosa Cardiel, Ana; Marsh, Julie A.; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Early Growth Genetics (EGG) Consortium; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M.; Jones, Samuel E.; Kogevinas, Manolis; Lind, Penelope A.; Marullo, Letizia; Medland, Sarah E.; Murray, Anna; Murray, Jeffrey C.; Njolstad, Pal R.; Nohr, Ellen Aagard; Reichetzeder, Christoph; Ring, Susan M.; Ruth, Katherine S.; Santa Marina, Loreto; Scholtens, Denise M.; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A.; Vaudel, Marc; Weedon, Michael N.; Willemsen, Gonneke; Wood, Andrew R.; Yaghootkar, Hanieh; Muglia, Louis J.; Bartels, Meike; Relton, Caroline L.; Pennell, Craig E.; Chatzi, Leda; Estivill, Xavier, 1955-; Holloway, John W.; Boomsma, Dorret I.; Montgomery, Grant W.; Murabito, Joanne M.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Ritta; Bisgaard, Hans; Grant, Struan F.; Sorensen, Thorkild I. A.; Jaddoe, Vincent W.; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I.; Hattersley, Andrew T.; Hayes, M. Geoffrey; Frayling, Timothy M.; Hivert, Marie-France; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Evans, David M.; Lawlor, Debbie A.; Feenstra, Bjarke; Freathy, Rachel M.
12-Dec-2001Identificació de nous gens a la regió cromosòmica 21q22. Caracterització molecular de KCNE2 i KCNE3.Domenech Gimeno, Anna
Jul-2016Identification of gene mutations and fusion genes in patients with Sézary SyndromePrasad, Aparna; Rabionet Janssen, Raquel; Espinet Solà, Blanca; Zapata, Luis; Puiggròs Metje, Anna Maria; Melero, Carme; Puig, Anna; Sarria Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach Panella, Ma. Teresa (María Teresa); Servitje Bedate, Octavio; Lopez Lerma, Ingrid; Gallardo, Fernando; Pujol, Ramon M.; Estivill, Xavier, 1955-
16-Apr-2013Identification of genetic susceptibility factors for fibromyalgiaDocampo Martínez, Elisa
11-Apr-1991Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.Bosch, A.; Kruyer, H.; Nunes Martínez, Virginia; Estivill, Xavier, 1955-
5-Jul-1990Mutation analysis in cystic fibrosisGasparini, P.; Pignatti, P.F.; Novelli, G.; Dallapiccola, B.; Nunes Martínez, Virginia; Casals, T.; Estivill, Xavier, 1955-; Fernández Muñoz, Esteve; Balassopoulou, A.; Loukopoulos, D.; Lavinha, J.; Simova, L.; Komel, R.
1-Jun-1995Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferensChillón, Miguel; Casals, T.; Mercier, Bernard; Bassas, Lluís; Lissens, Willy; Silber, Sherman; Romey, Marie Catherine; Ruiz Romero, Javier; Verlingue, Claudine; Claustres, Mireille; Nunes Martínez, Virginia; Férec, Claude; Estivill, Xavier, 1955-
1996A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.Barrientos Rubio, Antoni; Volpini Bertrán, Víctor; Casademont i Pou, Jordi; Genís, David; Manzanares, Josep-Maria; Ferrer, Isidro (Ferrer Abizanda); Corral, Jordi; Cardellach, Francesc; Urbano Márquez, A. (Álvaro); Estivill, Xavier, 1955-; Nunes Martínez, Virginia
27-Jan-2004Patologia molecular del gen CFTR: Fibrosi quística i fenotips relacionatsCasals Senent, Teresa
25-Aug-1990PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutationNunes Martínez, Virginia; Chillón, Miguel; Lench, N.; Ramsay, M.; Estivill, Xavier, 1955-
2008Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)González, Juan R.; Carrasco Jordan, Josep Lluís; Armengol, Lluís; Villatoro, Sergi; Jover Armengol, Lluís de; Yasui, Yutaka; Estivill, Xavier, 1955-
11-Mar-1990Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19), closely linked to cystic fibrosisNunes Martínez, Virginia; Ramsay, M.; Casals, T.; Chillón, Miguel; Lench, N.; Schwartz, Myron; Estivill, Xavier, 1955-
1-Mar-2016Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysisPantano, Lorena; Friedlaender, Marc R.; Escaramís Babiano, Geòrgia; Lizano, Esther; Pallarès Albanell, Joan; Ferrer, Isidro (Ferrer Abizanda); Estivill, Xavier, 1955-; Martí, Eulàlia
22-Nov-1991SSCP-polymorphism in intron 12 of the CFTR gene recognized by BclIChillón, Miguel; Nunes Martínez, Virginia; Estivill, Xavier, 1955-
1-Nov-2016Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levelsRué Cabré, Laura; Bañez-Coronel, Mónica; Creus Muncunill, Jordi; Giralt Torroella, Albert; Alcalá Vida, Rafael; Mentxaka, Gartze; Kagerbauer, Birgit; Zomeño Abellán, M.Teresa; Aranda, Zeus; Venturi, Verónica; Pérez Navarro, Esther; Estivill, Xavier, 1955-; Martí, Eulàlia
15-Mar-2016Tying malaria and microRNAs: from the biology to future diagnostic perspectivesRubio, Mercedes; Bassat Orellana, Quique; Estivill, Xavier, 1955-; Mayor Aparicio, Alfredo Gabriel