Browsing by Author Pineda Riu, Marta

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Issue DateTitleAuthor(s)
6-Dec-2020A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer PatientsFeliubadaló i Elorza, Maria Lídia; Moles Fernández, Alejandro; Santamariña Pena, Marta; Sánchez, Alysson T.; López Novo, Anael; Porras, Luz Marina; Blanco, Ana; Capellá, G. (Gabriel); Hoya, Miguel de la; Molina, Ignacio J.; Osorio, Ana; Pineda Riu, Marta; Rueda, Daniel; Cruz, Xavier de la; Diez, Orland; Ruiz Ponte, Clara; Gutiérrez Enríquez, Sara; Vega, Ana; Lázaro García, Conxi
4-Jan-2017A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscapeCastellanos, Elisabeth; Gel, Bernat; Rosas, Inma; Tornero, Eva; Santín, Sheila; Pluvinet Ortega, Raquel; Velasco, Juan; Sumoy, Lauro; Valle Domínguez, Jesús del; Perucho, Manuel; Blanco Guillermo, Ignacio; Navarro, Matilde; Brunet, Joan; Pineda Riu, Marta; Feliubadaló i Elorza, Maria Lídia; Capellá, G. (Gabriel); Lázaro García, Conxi; Serra Arenas, Eduard
20-Dec-2013Application of a 5-tiered scheme for standardized classification of 2,360 Unique mismatch repair gene variants in the InSiGHT locus-specific databaseThompson, Bryony A.; Spurdle, Amanda B.; Plazzer, John-Paul; Greenblatt, Marc S.; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, G. (Gabriel); Dunnen, Johan T. den; Sart, Desiree du; Fabre, Aurelie; Farrell, Michael P.; Farrington, Susan M.; Frayling, Ian M.; Frebourg, Thierry; Goldgar, David E.; Heinen, Christopher D.; Holinski-Feder, Elke; Kohonen-Corish, Maija; Lagerstedt Robinson, Kristina; Leung, Suet Yi; Martins, Alexandra; Møller, Pål; Morak, Monika; Nystrom, Minna; Peltomäki, Päivi; Pineda Riu, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J.; Sijmons, Rolf; Tavtigian, Sean V.; Tops, Carli M.; Weber, Thomas; Wijnen, Juul; Woods, Michael O.; Macrae, Finlay; Genuardi, Maurizio; InSiGHT
1-Oct-2019Approaches to functionally validate candidate genetic variants involved in colorectal cancer predispositionBonjoch Gassol, Laia; Mur, Pilar; Arnau Collell, Coral; Vargas Parra, Gardenia; Shamloo, Bahar; Franch Expósito, Sebastià; Pineda Riu, Marta; Capellá, G. (Gabriel); Erman, Batu; Castellví Bel, Sergi
18-Nov-2020Assessing effectiveness of colonic and gynecological risk reducing surgery in lynch syndrome individualsDueñas, Nuria; Navarro, Matilde; Teulé-Vega, Àlex; Solanes, Ares; Salinas Masdeu, Mònica; Iglesias Casals, Sílvia; Munté, Elisabet; Ponce i Sebastià, Jordi; Guardiola, Jordi; Kreisler, Esther; Carballas, Elvira; Cuadrado, Marta; Matias-Guiu, Xavier; Ossa, Napoleón de la; Lop, Joan; Lázaro García, Conxi; Capellá, G. (Gabriel); Pineda Riu, Marta; Brunet, Joan
4-Jan-2017Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary CancerFeliubadaló i Elorza, Maria Lídia; Tonda, Raul; Gausachs Romero, Mireia; Trotta, Jean Rémi; Castellanos, Elisabeth; López Dóriga Guerra, Adriana; Teulé-Vega, Àlex; Tornero, Eva; Valle Domínguez, Jesús del; Gel, Bernat; Gut, Marta; Pineda Riu, Marta; González, Sara; Menéndez Vilà, Mireia; Navarro, Matilde; Capellá, G. (Gabriel); Gut, Ivo G.; Serra Arenas, Eduard; Brunet, Joan; Beltran i Agulló, Sergi; Lázaro García, Conxi
28-Jul-2017Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome DatabaseMøller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski Feder, Elke; Sala, Paulo; Gareth Evans, D.; Lindblom, Annika; Macrae, Finlay; Blanco Guillermo, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline; Vasen, Hans F.A.; 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; Dominguez Valentin, Mev; Frayling, Ian M.; Plazzer, John Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Moeslein, Gabriela; Sampson, Julian R.; Capellá, G. (Gabriel); Mallorca Group
10-Oct-2017Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome databaseSeppälä, Toni; Pylvänäinen, Kirsi; Evans, D. Gareth; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Lindblom, Annika; Macrae, Finlay; Blanco, Inlay; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans F. A.; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; De Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul; Jenkins, Mark A.; Genuardi, Maurizio; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda Riu, Marta; Navarro, Matilde; Morak, Monika; Frayling, Ian M.; Plazzer, John-Paul; Sampson, Julian R.; Capellá, G. (Gabriel); Möslein, Gabriela; Mecklin, Jukka-Pekka; Møller, Pål; Mallorca Group
29-Sep-2020Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal NeoplasiaCuatrecasas Freixas, Miriam; Gorostiaga, Iñigo; Riera, Cristina; Saperas, Esteban; Llort, Gemma; Costa, Irmgard; Matias-Guiu, Xavier; Carrato, Cristina; Navarro, Matilde; Pineda Riu, Marta; Dueñas, Núria; Brunet, Joan; Marco, Vicente; Trias, Isabel; Busteros, José Ignacio; Mateu, Gemma; Balaguer Prunés, Francesc; Fernández Figueras, María Teresa; Esteller, Manel; Musulén, Eva
1-Jul-2020Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like IndividualsDámaso, Estela; González Acosta, María Isabel; Vargas Parra, Gardenía María; Navarro, Matilde; Balmaña, Judith; Ramon y Cajal, Teresa; Tuset, Noemí; Thompson, Bryony A.; Marín, Fátima; Fernández, Anna; Gomez, Carolina; Velasco, Àngela; Solanes, Ares; Iglesias Casals, Sílvia; Urgel, Gisela; López, Consol; Valle, Jesús del; Campos, Olga; Santacana, Maria; Matias-Guiu, Xavier; Lázaro García, Conxi; Valle, Laura; Brunet, Joan; Pineda Riu, Marta; Capellá, G. (Gabriel)
5-Sep-2018Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations?Moles-Fernández, Alejandro; Duran-Lozano, Laura; Montalban, Gemma; Bonache, Sandra; López-Perolio, Irene; Menéndez Vilà, Mireia; Santamariña, Marta; Behar, Raquel; Blanco, Ana; Carrasco, Estela; López-Fernández, Adrià; Stjepanovic, Neda; Balmaña, Judith; Capellá, G. (Gabriel); Pineda Riu, Marta; Vega, Ana; Lázaro García, Conxi; Hoya, Miguel de la; Díez Gibert, Orland; Gutiérrez Enríquez, Sara
13-Dec-2019Desarrollo de nuevas aproximaciones para el diagnóstico molecular de los síndromes de predisposición hereditaria al cáncer asociados a deficiencia del sistema de reparación de apareamientos erróneosGonzález Acosta, María Isabel
22-Dec-2018Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?Stradella, Agostina; Valle, Jesús del; Rofes, Paula; Feliubadaló i Elorza, Maria Lídia; Grau Garcés, Èlia; Velasco, Àngela; González, Sara; Vargas Parra, Gardenía María; Izquierdo, Ángel; Campos, Olga; Tornero, Eva; Navarro, Matilde; Balmaña, Judith; Capellá, G. (Gabriel); Pineda Riu, Marta; Brunet, Joan; Lázaro García, Conxi
19-Feb-2016Elucidating the molecular basis of Lynch-Like syndromeVargas Parra, Gardenía María
19-Feb-2013Estudi de variants de significat desconegut en la síndrome de LynchBorràs Flores, Ester
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-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