Browsing by Subject Genètica mèdica
Showing results 18 to 37 of 98
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| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Sep-2017 | Candidate genes for psychosis and their interaction with environmental factors: impact on psychosis-proneness = Gens candidats per psicosi i la seva interacció amb factors ambientals: impacte sobre la vulnerabilitat per a psicosi | Castro Catala, Marta de |
| 3-Jun-2009 | Caracterització del factor de transcripció ERM/ETV5 durant la infiltració miometrial i aproximacions proteòmiques al procés d'invasió en càncer d'endometri | Monge i Azemar, Marta |
| 22-Jul-2020 | Caracterización clínica y molecular del síndrome de Rett: elucidar los casos no resueltos | Vidal Falcó, Silvia |
| 26-Sep-2015 | Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. | Panagiotakaki, Eleni; Grandis, Elisa de; Stagnaro, Michela; Heinzen, Erin L.; Fons, Carmen; Sisodiya, Sanjay; Vries, Boukje de; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid; Lesca, Gaetan; Rabilloud, Muriel; Klich, Amna; Ramírez Camacho, Alia; Ulate-Campos, Adriana; Campistol Plana, Jaume; Giannotta, Melania; Moutard, Marie L.; Doummar, Diane; Hubsch-Bonneaud, Cecile; Jaffer, Fatima; Cross, J. Helen; Gurrieri, Fiorella; Tiziano, Danilo; Nevsimalova, Sona; Nicole, Sophie; Neville, Brian; Maagdenberg, Arn M.J.M. van den; Mikati, Mohamad; Goldstein, David B.; Vavassori, Rosaria; Arzimanoglou, Alexis; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium |
| 13-Mar-2020 | Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility | Arnau Collell, Coral; Soares de Lima, Yasmin; Díaz Gay, Marcos; Muñoz, Jenifer; Carballal, Sabela; Bonjoch Gassol, Laia; Moreira, Leticia; Lozano Salvatella, Juan José; Ocaña, Teresa; Cuatrecasas Freixas, Miriam; Díaz de Bustamante, Aranzazu; Castells Garangou, Antoni; Capellá, G. (Gabriel); Bujanda, Luis; Cubiella, Joaquín; Rodríguez Alcalde, Daniel; Balaguer Prunés, Francesc; Ruiz Ponte, Clara; Valle, Laura; Moreno Aguado, Víctor; Castellví Bel, Sergi |
| 1-Dec-2021 | Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology | Rheenen, Wouter van; Spek, Rick A. A. van der; Bakker, Mark K.; Vugt, Joke J. F. A. van; Hop, Paul J.; Zwamborn, Ramona A. J.; Klein, Niek de; Westra, Harm Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Siciliano, Gabriele; Petri, Susanne; Breen, Gerome; Weber, Markus; Rouleau, Guy A.; Rojas García, Ricardo; Silani, Vincenzo; Amouyel, Philippe; Ghiglione, Paolo; Davey Smith, George; Needham, Merrilee; Curtis, Charles J.; Shatunov, Aleksey; Mill, Jonathan; Mclaughlin, Russell L.; Filosto, Massimiliano; Comi, Cristoforo; Gerfo, Annalisa lo; Ferlini, Alessandra; Riva, Nilo; Mora Pardina, Jesus S.; Ceroni, Mauro; Chiveri, Luca; Hardiman, Orla; Torrieri, Maria Claudia; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Padovani, Alessandro; Chandran, Siddharthan; Simoncini, Costanza; Al Chalabi, Ammar; Assialioui, Abdelilah; Labate, Carmelo; Damme, Philip van; Ticozzi, Nicola; Palumbo, Francesca; Inghilleri, Maurizio; Chiò, Adriano; Pal, Suvankar; Lunetta, Christian; Gagliardi, Stella; Jörk, Alexander; Cichon, Sven; Kraft, Julia; Morrison, Karen E.; Ruiz, Luigi; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Corrado, Lucia; Dion, Patrick A.; Calvo, Andrea; Kooyman, Maarten; Ceroni, Mauro; Başak, Nazli; Gerardi, Francesca; Simone, Isabella L.; Kooi, Anneke J. van der; Ratti, Antonia; Ferrandi, Delfina; Garton, Fleur C.; Fogh, Isabella; Ludolph, Albert C.; Moglia, Cristina; Brunetti, Maura; Diamanti, Luca; Barthel, Tabea; Blair, Ian P.; Es, Michael A. van; Gallone, Salvatore; Canosa, Antonio; Mazzini, Letizia; Guerra, Vito; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Ferrarese, Carlo; Nefussy, Beatrice; Theele, Erik; Rinaldi, Fabrizio; Weishaupt, Jochen H.; Westeneng, Henk Jan; Kiernan, Matthew C.; Barberis, Marco; Osmanovic, Alma; Baloh, Robert H.; Nordin, Angelica; Lerner, Yossef; Vito, Nicoletta di; Zabari, Michal; Zoccolella, Stefano; Heverin, Mark; Ross, Jay P.; Gotkine, Marc; Guaita, Maria Cristina; Brenner, David; Freischmidt, Axel; Sbaiz, Luca; Benyamin, Beben; Glass, Jonathan D.; Landers, John E.; Tazelaar, Gijs H. P.; Rota, Eugenia; Valluzzi, Francesco; Bensimon, Gilbert; Ilse, Benjamin; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Gentile, Salvatore; Moisse, Matthieu; Topp, Simon; Aguggia, Marco; Henderson, Robert D.; Rademakers, Rosa; Perrone, Patrizia; Stubendorff, Beatrice; Brown, Robert H.; Restuadi, Restuadi; Tremolizzo, Lucio; Mundi, Ciro; Berg, Leonard H. van den; Passarella, Bruno; Raggi, Flavia; Delodovici, Maria Luisa; Furlong, Sarah; Bono, Giorgio; Canosa, Antonio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Meineri, Piero; Mauro, Alessandro; Hannon, Eilis; Rini, Augusto; Casale, Federico; Leone, Maurizio; Shaw, Christopher E.; Fuda, Giuseppe; Salamone, Paolina; Mathers, Susan; Baird, Denis; Launaro, Nicola; Mazzini, Letizia; Marchi, Fabiola de; Traynor, Bryan J.; Veldink, Jan H.; Gellera, Cinzia; Salachas, François; Witte, Otto W.; Corrado, Lucia; Andersen, Peter M.; D’alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Singleton, Andrew B.; Odddenino, Enrico; Slalom Consortium; Tamma, Filippo; Dotta, Michele; Lauria, Giuseppe; Steinbach, Robert; Imperiale, Daniele; Geda, Claudio; Dolzhenko, Egor; Cavallo, Roberto; Ngo, Shyuan T.; Pignatta, Pietro; Groen, Ewout J. N.; Cotelli, Maria Sofia; Mattei, Marco de; Calabrese, Gianluigi; Sapio, Alessia di; Giardini, Guido; Hübner, Christian A.; Corti, Stefania; Bell, Shaughn; Corcia, Philippe; Comi, Giancarlo; Mccombe, Pamela A.; Tiloca, Cinzia; Parals Consortium; Gawor, Klara; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Graff, Caroline; Olsen, Catherine M.; Comi, Giacomo P.; Cereda, Cristina; Bo, Roberto del; Boero, Giovanni; Slagen Consortium; Vourc’h, Patrick; Hofman, Albert; Van Eijk, Kristel R.; Pasterkamp, R. Jeroen; Tittmann, Lukas; Iacoangeli, Alfredo; Mitne Neto, Miguel; Sproviero, Daisy; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau Pazos, Martina; Lomen-Hoerth, Catherine; Deerlin, Vivianna M. van; Nicholson, Garth A.; Brylev, Lev; Whiteman, David C.; Grosskreutz, Julian; Fan, Dongsheng; Couratier, Philippe; Roediger, Annekathrin; Gaur, Nayana; D’alfonso, Sandra; Uitterlinden, André G.; Pamphlett, Roger; Fominykh, Vera; Byrne, Ross P.; Lieb, Wolfgang; Iazzolino, Barbara; Dekker, Annelot M.; Slap Consortium; Demeshonok, Vera; Millecamps, Stéphanie; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Ravnik-Glavač, Metka; Franke, Andre; Mcrae, Allan F.; Rowe, Dominic B.; Peotta, Laura; Cooper-Knock, Johnathan; Glavač, Damjan; Doherty, Mark; Rietschel, Marcella; Stević, Zorica; Drory, Vivian; Meininger, Vincent; Zarrelli, Michele; Povedano Panades, Mónica; Gaunt, Tom R.; Steyn, Frederik J.; Williams, Kelly L.; Smith, Bradley N.; Cugnasco, Paolo; Papurello, Diego Maria; Nozzoli, Cecilia; Sorarù, Gianni; Mather, Karen A.; Ripke, Stephan; Nöthen, Markus M.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; Carvalho, Mamede de; Gromicho, Marta; Pinto, Susana; Marco, Giovanni de; Al Khleifat, Ahmad; Eberle, Michael A.; Braun, Alice; Gusmaroli, Graziano |
| 29-Jun-2021 | Decoding the genetic landscape of pediatric and young adult germinal center-derived B-cell non-Hodgkin lymphoma | Ramis Zaldívar, Joan Enric |
| 13-Dec-2019 | Desarrollo de nuevas aproximaciones para el diagnóstico molecular de los síndromes de predisposición hereditaria al cáncer asociados a deficiencia del sistema de reparación de apareamientos erróneos | González Acosta, María Isabel |
| 1-Aug-2016 | Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors. | Sutton, Lesley-Ann; Young, Emma; Baliakas, Panagiotis; Hadzidimitriou, Anastasia; Moysiadis, Theodoros; Plevova, Karla; Rossi, Davide; Kminkova, Jana; Stalika, Evangelia; Pedersen, Lone Bredo; Malcikova, Jitka; Agathangelidis, Andreas; Davis, Zadie; Mansouri, Larry; Scarfò, Lydia; Boudjoghra, Myriam; Navarro López, Alba; Muggen, Alice F.; Yan, Xiao-Jie; Nguyen-Khac, Florence; Larrayoz, Marta; Panagiotidis, Panagiotis; Chiorazzi, Nicholas; Utoft Niemann, Carsten; Belessi, Chrysoula; Campo Güerri, Elias; Strefford, Jonathan C.; Langerak, Anton W.; Oscier, David; Gaidano, Gianluca; Pospisilova, Sarka; Davi, Frederic; Ghia, Paolo; Stamatopoulos, Kostas; Rosenquist, Richard |
| 15-Oct-2021 | Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements | Frauenfeld, Leonie; Castrejón de Anta, Natalia; Ramis Zaldívar, Joan Enric; Streich, Sebastian; Salmerón Villalobos, Julia; Otto, Franziska; Mayer, Annika Katharina; Steinhilber, Julia; Pinyol, Magda; Mankel, Barbara; Ramsower, Colleen; Bonzheim, Irina; Fend, Falko; Rimsza, Lisa M.; Salaverria Lete, Itziar; Campo Güerri, Elias; Balague, Olga; Quintanilla Martinez, Leticia |
| 15-Nov-2017 | Discovering the 3′ UTR-mediated regulation of alpha-synuclein | Marchese, Domenica; Botta Orfila, Teresa; Cirillo, Davide; Rodriguez, Juan Antonio; Livi, Carmen M.; Fernández Santiago, Rubén; Ezquerra, Mario; Martí Domènech, Ma. Josep; Bechara, Elias; Tartaglia, Gian Gaetano; Catalan MSA Registry (CMSAR); Ávila, Asunción; Bayés Rusiñol, Àngels; Caballol, Núria; Calopa, Matilde; Campdelacreu i Fumadó, Jaume; Compta, Yaroslau; Fàbregues, Oriol de; Girado, Darly; Hernández Vara, Jorge; Jaumà, Serge; Martí Domènech, Ma. Josep; Pagonabarraga, Javier; Pastor, Pau; Planellas, Lluís; Pont Sunyer, Claustre; Puente, Victor; Pujol, Montserrat; Saura Martí, Josep; Tolosa, Eduardo; Valldeoriola Serra, Francesc |
| 5-May-2021 | Dissecting genetic regulatory mechanisms in human pancreatic islets to gain insights into type 2 diabetes pathophysiology | Atla, Goutham |
| 13-Apr-2010 | Enfermedad de Charcot-Marie-Tooth: Estudio clínico y molecular de los genes GJB-1 y MFN2 en la población española. | Casasnovas Pons, Carlos |
| 22-Nov-2013 | Epigenetic Inactivation of the BRCA1 Interactor SRBC and Resistance to Oxaliplatin in Colorectal Cancer | Moutinho, Cátia; Martínez Cardús, Anna; Santos, Cristina; Navarro-Pérez, Valentin; Martínez Balibrea, Eva; Musulén, Eva; Carmona, F. Javier; Sartore-Bianchi, Andrea; Cassingena, Andrea; Siena, Salvatore; Élez, Elena; Tabernero Caturla, Josep; Salazar Soler, Ramón; Abad, Albert; Esteller, Manel |
| 28-Nov-2014 | Estratègies terapèutiques per la Neurofibromatosi de tipus 1 | Castellsagué, Joan |
| 11-Dec-2019 | Estudios genéticos masivos en el ictus isquémico: factores de riesgo y pronóstico | Torres Águila, Nuria Paz |
| 4-Apr-2022 | European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases | Mont Girbau, Lluís; Wilde, Arthur A. M.; Semsarian, Christopher; Márquez, Manlio F.; Deneke, Thomas; Kaufman, Elizabeth S. |
| 14-Sep-2023 | Evaluación de ensayos de alta sensibilidad para mejorar la identificación y el seguimiento de individuos con síndromes de cáncer hereditario asociados a deficiencia de reparación de errores de apareamiento | Canet Hermida, Julia |
| 27-Jan-2015 | Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. | Giancane, Gabriella; Ter Haar, Nienke M.; Wulffraat, Nico; Vastert, Sebastiaan J.; Barron, Karyl; Hentgen, Veronique; Kallinich, Tilmann; Ozdogan, Huri; Antón López, Jordi; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael, 1966-; Koné-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J.; Simon, Anna; Demirkaya, Erkan; Feldman, Brian; Uziel, Yosef; Ozen, Seza |
| 26-Feb-2021 | La funció de CERKL a la retina: generació d’un model de ratolí i anàlisi de la seva implicació en la resposta a estrès oxidatiu | Borrego Domènech, Elena |