Browsing by Author Pineda Riu, Marta
Showing results 1 to 20 of 45
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| Issue Date | Title | Author(s) |
|---|---|---|
| 6-Dec-2020 | A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients | Feliubadaló 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-2017 | A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape | Castellanos, 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-2013 | Application of a 5-tiered scheme for standardized classification of 2,360 Unique mismatch repair gene variants in the InSiGHT locus-specific database | Thompson, 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-2019 | Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition | Bonjoch Gassol, Laia; Mur, Pilar; Arnau Collell, Coral; Vargas Parra, Gardenía María; Shamloo, Bahar; Franch Expósito, Sebastià; Pineda Riu, Marta; Capellá, G. (Gabriel); Erman, Batu; Castellví Bel, Sergi |
| 18-Nov-2020 | Assessing effectiveness of colonic and gynecological risk reducing surgery in lynch syndrome individuals | Dueñas, 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-2017 | Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer | Feliubadaló 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-2017 | Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database | Møller, 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; 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 |
| 13-May-2021 | CNVfilteR: an R/bioconductor package to identify false positives produced by germline NGS CNV detection tools. | Moreno Cabrera, José Marcos; Valle, Jesús del; Castellanos, Elisabeth; Feliubadaló i Elorza, Maria Lídia; Pineda Riu, Marta; Serra Arenas, Eduard; Capellá, G. (Gabriel); Lázaro García, Conxi; Gel, Bernat |
| 10-Oct-2017 | Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database | Seppälä, Toni T.; 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; 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-2020 | Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia | Cuatrecasas Freixas, Miriam; Gorostiaga, Iñigo; Riera, Cristina; Saperas, Esteban; Llort, Gemma; Costa, Irmgard; Matias-Guiu, Xavier; Carrato, Cristina; Navarro, Matilde; Pineda Riu, Marta; Dueñas, Nuria; Brunet, Joan; Marco, Vicente; Trias, Isabel; Busteros, José Ignacio; Mateu, Gemma; Balaguer Prunés, Francesc; Fernández Figueras, María Teresa; Esteller, Manel; Musulén, Eva |
| 1-Jul-2020 | Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals | Dámaso, 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-2018 | Computational 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-Pena, 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 |
| 22-Jun-2021 | Correction: Dueñas et al. Assessing effectiveness of colonic and gynecological risk reducing surgery in Lynch syndrome individuals. Cancers 2020, 12, 3419. | Dueñas, 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 |
| 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 |
| 22-Dec-2018 | Does 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-2016 | Elucidating the molecular basis of Lynch-Like syndrome | Vargas Parra, Gardenía María |
| 19-Feb-2013 | Estudi de variants de significat desconegut en la síndrome de Lynch | Borràs Flores, Ester |
| 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, Júlia |
| 1-Dec-2020 | Evaluation of CNV detection tools for NGS panel data in genetic diagnostics | Moreno 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-2023 | Evaluation of somatic mutations in cervicovaginal samples as a non-invasive method for the detection and molecular classification of endometrial cancer | Pelegrina, 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 |