Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer

由 Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura
出版 2014

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

由 Carrato, Cristina, Sanz, Carolina, Muñoz-Mármol, Ana María, Blanco, Ignacio, Pineda, Marta, Del Valle, Jesús, Dámaso, Estela, Esteller, Manel, Musulen, Eva
發表在 Int J Mol Sci (2021)

Telomere Length and Genetic Anticipation in Lynch Syndrome

由 Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura
出版 2013

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

由 Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
發表在 Eur J Hum Genet (2020)

Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.

由 Pineda, Marta, Wagner, Carsten A, Bröer, Angelika, Stehberger, Paul A, Kaltenbach, Simone, Gelpí, Josep Ll, Martín Del Río, Rafael, Zorzano, Antonio, Palacín, Manuel, Lang, Florian, Bröer, Stefan
出版 2004

Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

由 Bellido, Fernando, Guinó, Elisabet, Jagmohan-Changur, Shantie, Seguí, Nuria, Pineda, Marta, Navarro, Matilde, Lázaro, Conxi, Blanco, Ignacio, Vasen, Hans FA, Moreno, Victor, Capellá, Gabriel, Wijnen, Juul T, Valle, Laura
出版 2013

MLH1 methylation screening is effective in identifying epimutation carriers

由 Pineda, Marta, Mur, Pilar, Iniesta, María Dolores, Borràs, Ester, Campos, Olga, Vargas, Gardenia, Iglesias, Sílvia, Fernández, Anna, Gruber, Stephen B, Lázaro, Conxi, Brunet, Joan, Navarro, Matilde, Blanco, Ignacio, Capellá, Gabriel
出版 2012

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

由 Mur, Pilar, Elena, Sánchez-Cuartielles, Aussó, Susanna, Aiza, Gemma, Rafael, Valdés-Mas, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
發表在 Sci Rep (2016)

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

由 Mur, Pilar, Sánchez-Cuartielles, Elena, Aussó, Susanna, Aiza, Gemma, Valdés-Mas, Rafael, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
發表在 Sci Rep (2016)

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study

由 Gausachs, Mireia, Mur, Pilar, Corral, Julieta, Pineda, Marta, González, Sara, Benito, Llúcia, Menéndez, Mireia, Espinàs, Josep Alfons, Brunet, Joan, Iniesta, María Dolores, Gruber, Stephen B, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel
出版 2012

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

由 Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
發表在 Sci Rep (2017)

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

由 Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas, Gardenia, Izquierdo, Ángel, Campos, Olga, Tornero, Eva, Navarro, Matilde, Balmaña-Gelpi, Judith, Capellá, Gabriel, Pineda, Marta, Brunet, Joan, Lázaro, Conxi
發表在 J Med Genet (2019)

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

由 Feliubadaló, Lídia, Lopez-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Menéndez, Mireia, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Gómez, Carolina, Campos, Olga, Pineda, Marta, González, Sara, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi
出版 2013

Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals

由 Dueñas, Nuria, Navarro, Matilde, Teulé, Àlex, Solanes, Ares, Salinas, Mònica, Iglesias, Sílvia, Munté, Elisabet, Ponce, Jordi, Guardiola, Jordi, Kreisler, Esther, Carballas, Elvira, Cuadrado, Marta, Matias-Guiu, Xavier, de la Ossa, Napoleón, Lop, Joan, Lázaro, Conxi, Capellá, Gabriel, Pineda, Marta, Brunet, Joan
發表在 Cancers (Basel) (2020)

Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12, 3419

由 Dueñas, Nuria, Navarro, Matilde, Teulé, Àlex, Solanes, Ares, Salinas, Mònica, Iglesias, Sílvia, Munté, Elisabet, Ponce, Jordi, Guardiola, Jordi, Kreisler, Esther, Carballas, Elvira, Cuadrado, Marta, Matias-Guiu, Xavier, de la Ossa, Napoleón, Lop, Joan, Lázaro, Conxi, Capellá, Gabriel, Pineda, Marta, Brunet, Joan
發表在 Cancers (Basel) (2021)

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

由 Bellido, Fernando, Pineda, Marta, Aiza, Gemma, Valdés-Mas, Rafael, Navarro, Matilde, Puente, Diana A., Pons, Tirso, González, Sara, Iglesias, Silvia, Darder, Esther, Piñol, Virginia, Soto, José Luís, Valencia, Alfonso, Blanco, Ignacio, Urioste, Miguel, Brunet, Joan, Lázaro, Conxi, Capellá, Gabriel, Puente, Xose S., Valle, Laura
發表在 Genet Med (2016)

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

由 del Valle, Jesús, Rofes, Paula, Moreno-Cabrera, José Marcos, López-Dóriga, Adriana, Belhadj, Sami, Vargas-Parra, Gardenia, Teulé, Àlex, Cuesta, Raquel, Muñoz, Xavier, Campos, Olga, Salinas, Mónica, de Cid, Rafael, Brunet, Joan, González, Sara, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi
發表在 Cancers (Basel) (2020)

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

由 Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
發表在 Sci Rep (2017)

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia

由 Cuatrecasas, Míriam, Gorostiaga, Iñigo, Riera, Cristina, Saperas, Esteban, Llort, Gemma, Costa, Irmgard, Matias-Guiu, Xavier, Carrato, Cristina, Navarro, Matilde, Pineda, Marta, Dueñas, Núria, Brunet, Joan, Marco, Vicente, Trias, Isabel, Busteros, José Ignacio, Mateu, Gemma, Balaguer, Francesc, Fernández-Figueras, María-Teresa, Esteller, Manel, Musulén, Eva
發表在 Cancers (Basel) (2020)

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

由 Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara
發表在 Front Genet (2018)