Browsing by Author Pineda Riu, Marta

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Issue DateTitleAuthor(s)
19-Feb-2013Estudi de variants de significat desconegut en la síndrome de LynchBorràs Flores, Ester
14-Sep-2023Evaluación 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 apareamientoCanet Hermida, Julia
1-Dec-2020Evaluation of CNV detection tools for NGS panel data in genetic diagnosticsMoreno Cabrera, José Marcos; Valle Domínguez, Jesús del; Castellanos, Elisabeth; Feliubadaló i Elorza, Maria Lídia; Pineda Riu, Marta; Brunet, Joan; Serra, Eduard; Capellá, G. (Gabriel); Lázaro García, Conxi; Gel, Bernat
1-Aug-2023Evaluation of somatic mutations in cervicovaginal samples as a non-invasive method for the detection and molecular classification of endometrial cancerPelegrina, Beatriz; Paytubi Casabona, Sònia; Marín, Fátima; Martínez Delgado, José Manuel; Carmona, Álvaro; Frias Gomez, Jon; Peremiquel Trillas, Paula; Dorca Duch, Eduard; Zanca, Alba; López-Querol Marta; Onieva, Irene; Benavente, Yolanda; Barahona, Marc; Fernandez Gonzalez, Sergi; De Francisco, Javier; Caño, Víctor; Vidal, August; Pijuan, Lara; Canet Hermida, Júlia; Dueñas, Nuria; Brunet, Joan; Pineda Riu, Marta; Matias-Guiu, Xavier; Ponce i Sebastià, Jordi; Bosch José, Francesc Xavier, 1947-; Sanjosé, Silvia de; Alemany i Vilches, Laia; Costas, Laura
1-Apr-2020Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer PatientsValle, Jesús del; Rofes, Paula; Moreno Cabrera, José Marcos; López Dóriga Guerra, Adriana; Belhadj, Sami; Vargas Parra, Gardenía María; Teulé-Vega, Àlex; Cuesta, Raquel; Muñoz, Xavier; Campos, Olga; Salinas Masdeu, Mònica; Cid, Rafael de; Brunet, Joan; González, Sara; Capellá, G. (Gabriel); Pineda Riu, Marta; Feliubadaló i Elorza, Maria Lídia; Lázaro García, Conxi
15-Feb-2018Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposisMur, Pilar; de Voer, Richarda M.; Olivera-Salguero, Rubén; Rodriguez Perales, Sandra; Pons, Tirso; Setién, Fernando; Aiza, Gemma; Valdés Mas, Rafael; Bertini, Angelo; Pineda Riu, Marta; Vreede, Lilian; Navarro, Matilde; Iglesias Casals, Sílvia; González, Sara; Brunet, Joan; Valencia, Alfonso; Esteller, Manel; Lázaro García, Conxi; Kops, Geert J. P. L.; Urioste, Miguel; Puente, Xose S.; Capellá, G. (Gabriel); Valle Velasco, Laura
10-Apr-2019Germline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancerBelhadj, Sami; Moutinho, Cátia; Mur, Pilar; Llinàs-Arias, Pere; Pérez Salvia, Montserrat; Pons, Tirso; Pineda Riu, Marta; Brunet, Joan; Navarro, Matilde; Esteller, Manel; Valle Velasco, Laura
28-Nov-2019Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutationDámaso, Estela; Canet Hermida, Júlia; Vargas Parra, Gardenía María; Velasco, Àngela; Marín, Fátima; Darder, Esther; Valle Domínguez, Jesús del; Fernández, Anna; Izquierdo i Font, Àngel Xavier; Mateu, Gemma; Oliveras, Glòria; Escribano, Carmen; Piñol, Virgínia; Uchima, Hugo Ikuo; Soto, José Luis; Hitchins, Megan; Farrés, Ramon; Lázaro García, Conxi; Queralt, Bernat; Brunet, Joan; Capellá, G. (Gabriel); Pineda Riu, Marta
9-Nov-2018Identificación y caracterización de alteraciones epigenéticas responsables de síndrome de Lynch y Lynch-likeDámaso, Estela
4-Dec-1998Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intoleranceTorrents Arenales, David; Estévez Povedano, Raúl; Pineda Riu, Marta; Fernández, Esperanza; Lloberas Cavero, Jorge; Shi, Yun-Bo; Zorzano Olarte, Antonio; Palacín Prieto, Manuel
9-Jul-1999Identification of a membrane protein, LAT-2, that co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acidsPineda Riu, Marta; Fernández, Esperanza; Torrents Arenales, David; Estévez Povedano, Raúl; López Iglesias, Carmen; Camps Camprubí, Marta; Lloberas Cavero, Jorge; Zorzano Olarte, Antonio; Palacín Prieto, Manuel
Sep-2017Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databaseMøller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski Feder, Elke; Sala, Paulo; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco Guillermo, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul T.; Jenkins, Mark A.; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda Riu, Marta; Navarro García, Matilde; Morak, Monika; Renkonen Sinisalo, Laura; Frayling, Ian M.; Plazzer, John Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R.; Capellá, G. (Gabriel); Mallorca Group
28-Feb-2019Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database reportSeppälä, Toni T.; Ahadova, Aysel; Dominguez Valentin, Mev; Macrae, Finlay; Evans, D. Gareth; Therkildsen, Christina; Sampson, Julian R.; Scott, RodneyJ.; Burn, John; Moslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvanainen, Kirsi; Renkonen Sinisalo; Lepisto, Anna; Lautrup, Charlotte K.; Lindblom, Annika; Plazzer, John Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior; Aretz, Stefan; Hüneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Della Valle, Adriana; Neffa, Florencia; Gluck, Nathan; De Vos Tot Nederveen Cappel, Wouter H. WH.; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Capellá, G. (Gabriel); Pineda Riu, Marta; Navarro, Matilde; Blanco Guillermo, Ignacio; ten Broeke, Sanne W.; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian M.; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette; Møller, Pål
1-Sep-2019Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationParsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló i Elorza, Maria Lídia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso Cerezo, María Concepción; Hauke, Jan; Heinrich, Tilman; Törngren, Therese; Hellebrand, Heide; Arnold, Norbert; Seggewiß, Jochen; Caldés, Trinidad; Herold, Karen N.; Honisch, Ellen; Naldi, Nadia; Witzel, Isabell; Walters, Rhiannon J.; Rump, Andreas; Horvath, Judit; Poplawski, Nicola K.; Velasco, Àngela; Houdayer, Claude; Brunet, Joan; Cini, Giulia; Hübbel, Verena; Iglesias, Silvia; Wöckel, Achim; Steinemann, Doris; Izquierdo, Angel; Barbieri, Elena; Wang Gohrke, Shan; James, Paul A.; Carnevali, Ileana; Torres Esquius, Sara; Janssen, Linda A.M.; Jeschke, Udo; Kruse, Torben A.; Kölbl, Alexandra; Ledig, Susanne; Cops, Elisa J.; Vesper, Anne Sophie; Kaulfuß, Silke; Porfirio, Berardino; Auber, Bernd; Weber, Bernhard H. F.; Leinert, Elena; Rofes, Paula; Bruzzone, Carla; Woodward, Emma R.; Matricardi, Laura; Solanes, Ares; Carrasco, Estela; Mackelenbergh, Marion T.; Waha, Anke; Nathanson, Katherine L.; Tucker, Katherine M.; Bucksch, Karolin; Navarro, Matilde; Faust, Ulrike; Bonanni, Bernardo; González, Sara; Nevanlinna, Heli; Nichols, Cassandra B.; Cortesi, Laura; Wiesmüller, Lisa; Niederacher, Dieter; Vreeswijk, Maaike P. G.; Caux Moncoutier, Virginie; Nielsen, Henriette R.; Giesecke, Jutta; Hackmann, Karl; Azzollini, Jacopo; Ong, Kai Ren; Pachter, Nicholas; Galvao, Henrique C.R.; Couch, Fergus J.; Palmero, Edenir I.; Guerrieri Gonzaga, Aliana; Cagnoli, Giulia; Papi, Laura; Asperen, Christi J.; Pohl Rescigno, Esther; Ramser, Juliane; Cavalli, Pietro; Pedersen, Inge Søkilde; Wagner, Sebastian A.; Felbor, Ute; Darder, Esther; Reis, Rui M.; Wieland, Kerstin; Gismondi, Viviana; Blümcke, Britta; Zachariae, Silke; Calvello, Mariarosaria; Stiller, Mathias; Bartram, Claus R.; Feroce, Irene; Stoppa Lyonnet, Dominique; Keupp, Katharina; Hoya, Miguel; Lucci Cordisco, Emanuela; Sullivan, Kelly J.; Susman, Rachel; Zampiga, Valentina; Guillaud Bataille, Marine; Concolino, Paola; Sutter, Christian; Caliebe, Almuth; Gómez, Carolina; Tavtigian, Sean V.; Lewis, Alexandra L.; Montagna, Marco; Teo, Soo H.; Teulé, Alex; Debatin, Irmgard; Thomassen, Mads; Kvist, Anders; Gutiérrez Enríquez, Sara; Tibiletti, Maria Grazia; Meindl, Alfons; Fine, Miriam; Tischkowitz, Marc; Blanco, Ana; Toss, Angela; Varesco, Liliana; Montes, Eva; Garcia, Encarna B.; Tognazzo, Silvia; Caligo, Maria A.; Kiechle, Marion; Haaf, Thomas; Vargas Parra, Gardenía María; Clarke, Edward M.; Lim, Joanna; Bonache, Sandra; Dean, Michael; Michelli, Rodrigo D.; Gensini, Francesca; Gross, Eva; Zeder Göß, Christine; Gambino, Gaetana; Loeffler, Markus; Investigators, Kconfab; Peissel, Bernard; Rivera, Daniela; Lázaro García, Conxi; Nicolo, Arcangela; Mori, Luigi; Harris, Marion; Radice, Paolo; Grau Garcés, Èlia; Moghadasi, Setareh; Engel, Christoph; Revillion, Françoise; Krieger, Sophie; Schmutzler, Rita K.; Goldgar, David E.; Balmaña, Judith; Austin, Rachel; Borg, Åke; Salinas, Monica; López Fernández, Adrià; Spurdle, Amanda B.; Gehrig, Andrea; Capone, Gabriele L.; Moles Fernández, Alejandro; Bortesi, Beatrice; Grill, Sabine; Pérez Segura, Pedro; Moserle, Lidia; Caputo, Sandrine M.; Hansen, Thomas V.O.; Rhiem, Kerstin; Lattimore, Vanessa L.; Marabelli, Monica; Del Valle, Jesús; Lalloo, Fiona; Pfeifer, Katharina; Delnatte, Capucine; Toland, Amanda E.; Müller, Clemens R.; Viel, Alessandra; Derive, Nicolas; Diez, Orland; Sánchez de Abajo, Ana María; Monteiro, Alvaro N.; Ditsch, Nina; Maass, Nicolai; Riboli, Barbara; Domchek, Susan M.; Varon-Mateeva, Raymonda; Weichert, Wilko; Dutrannoy, Véronique; Eccles, Diana; Ehrencrona, Hans; Trainer, Alison H.; Schmidt, Gunnar; Enders, Ute; Walker, Logan C.; Pineda Riu, Marta; Evans, D. Gareth; Larsen, Mirjam; Foulkes, William D.; Gerdes, Anne Marie; Ritter, Julia; Farra, Chantal; Manoukian, Siranoush; Tornero, Eva; Schoenwiese, Ulrike; Germani, Aldo; Montalban, Gemma; Vega, Ana; Lautrup, Charlotte; Mundhenke, Christoph; Quante, Anne S.
3-Feb-2014Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancerSeguí Gracia, Nuria; Guinó, Elisabet; Pineda Riu, Marta; Navarro, Matilde; Bellido Molías, Fernando; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Moreno Aguado, Víctor; Capellá, G. (Gabriel); Valle Velasco, Laura
25-Jan-2012MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness studyGausachs Romero, Mireia; Mur, Pilar; Corral, Julieta; Pineda Riu, Marta; González, Sara; Benito-Aracil, Llúcia; Menéndez Vilà, Mireia; Espinàs Piñol, Josep Alfons; Brunet, Joan; Iniesta, María Dolores; Gruber, Stephen B.; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Capellá, G. (Gabriel)
1-Apr-2023MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutationHitchins, Megan P.; Álvarez, Rocío; Zhou, Lisa; Aguirre, Francesca; Dámaso, Estela; Pineda Riu, Marta; Capella, Gabriel; Wong, Justin J.- L.; Yuan, Xiaopu; Ryan, Shawnia R.; Sathe, Devika S.; Baxter, Melanie D.; Cannon, Timothy; Biswas, Rakesh; Demarco, Tiffani; Grzelak, Doreen; Hampel, Heather; Pearlman, Rachel
20-Mar-2023Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.Dominguez Valentin, Mev; Haupt, Saskia; Seppälä, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capellá, G. (Gabriel); Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane C.; Buchanan, Daniel D; Thibodeau, Steven N.; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Redler, Silke; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Büttner, Reinhard; Weitz, Jürgen; Pineda Riu, Marta; Dueñas, Nuria; Brunet, Joan; Moreira, Leticia; Sánchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Tjandra, Douglas; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma J.; Mints, Miriam; Goldberg, Yael; Ten Broeke, Sanne W.; Kariv, Revital; Rosner, Guy; Advani, Suresh H.; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Balaguer Prunés, Francesc; Pavicic, Walter Hernán; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia; Möslein, Gabriela; Møller, Pål; Evans, D. Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Dębniak, Tadeusz; Fruscio, Robert; López-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lior H.; Laish, Ido; Vainer, Elez; Vaccaro, Carlos Alberto; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S.; Horisberger, Karoline; Tibiletti, Maria Grazia; Nascimento, Ivana; Thomas, Huw; Rossi, Norma Teresa; Apolinário da Silva, Leandro; Zaránd, Attila; Ruiz Bañobre, Juan; Heuveline, Vincent; Mecklin, Jukka Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L.; Ko Win, Aung; Haile, Robert W.
2-Nov-2023Occupational exposure to pesticides and endometrial cancer in the Screenwide case-control study Peñalver-Piñol, Arnau; Benavente, Yolanda; Frias Gomez, Jon; Alguacil, Juan; Santibáñez, Miguel; Contreras Llanes, Manuel; Peremiquel Trillas, Paula; López-Querol Marta; Paytubi Casabona, Sònia; Pelegrina, Beatriz; Onieva, Irene; Martínez Delgado, José Manuel; Fernandez Gonzalez, Sergi; De Francisco, Javier; Caño, Víctor; Brunet, Joan; Pineda Riu, Marta; Ponce i Sebastià, Jordi; Matias-Guiu, Xavier; Bosch José, Francesc Xavier, 1947-; Sanjosé, Silvia de; Alemany i Vilches, Laia; Costas, Laura
Oct-2018Primary constitutional MLH1 epimutations: a focal epigenetic eventDámaso, Estela; Castillejo, Adela; Arias, María del Mar; Canet Hermida, Júlia; Navarro, Matilde; Valle Domínguez, Jesús del; Campos, Olga; Fernández, Anna; Marín, Fátima; Turchetti, Daniela; García Díaz, Juan de Dios; Lázaro García, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Ángel; Soto, Jose Luis; Hitchins, Megan; Pineda Riu, Marta; Capellá, G. (Gabriel)