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

por Carrato, Cristina, Sanz, Carolina, Muñoz-Mármol, Ana María, Blanco, Ignacio, Pineda, Marta, Del Valle, Jesús, Dámaso, Estela, Esteller, Manel, Musulen, Eva
Publicado 2021

Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

por Ferrer‐Avargues, Rosario, Castillejo, María Isabel, Dámaso, Estela, Díez‐Obrero, Virginia, Garrigos, Noemí, Molina, Tatiana, Codoñer‐Alejos, Alan, Segura, Ángel, Sánchez‐Heras, Ana Beatriz, Castillejo, Adela, Soto, José Luis
Publicado 2021

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

por Morak, Monika, Pineda, Marta, Martins, Alexandra, Gaildrat, Pascaline, Tubeuf, Hélène, Drouet, Aurélie, Gómez, Carolina, Dámaso, Estela, Schaefer, Kerstin, Steinke-Lange, Verena, Koehler, Udo, Laner, Andreas, Hauchard, Julie, Chauris, Karine, Holinski-Feder, Elke, Capellá, Gabriel
Publicado 2022

Primary constitutional MLH1 epimutations: a focal epigenetic event

por Dámaso, Estela, Castillejo, Adela, Arias, María del Mar, Canet-Hermida, Julia, Navarro, Matilde, del Valle, Jesús, Campos, Olga, Fernández, Anna, Marín, Fátima, Turchetti, Daniela, García-Díaz, Juan de Dios, Lázaro, Conxi, Genuardi, Maurizio, Rueda, Daniel, Alonso, Ángel, Soto, Jose Luis, Hitchins, Megan, Pineda, Marta, Capellá, Gabriel
Publicado 2018

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

por Dámaso, Estela, Canet-Hermida, Júlia, Vargas-Parra, Gardenia, Velasco, Àngela, Marín, Fátima, Darder, Esther, del Valle, Jesús, Fernández, Anna, Izquierdo, Àngel, Mateu, Gemma, Oliveras, Glòria, Escribano, Carmen, Piñol, Virgínia, Uchima, Hugo-Ikuo, Soto, José Luis, Hitchins, Megan, Farrés, Ramon, Lázaro, Conxi, Queralt, Bernat, Brunet, Joan, Capellá, Gabriel, Pineda, Marta
Publicado 2019

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

por Dámaso, Estela, González-Acosta, Maribel, Vargas-Parra, Gardenia, Navarro, Matilde, Balmaña, Judith, Ramon y Cajal, Teresa, Tuset, Noemí, Thompson, Bryony A., Marín, Fátima, Fernández, Anna, Gómez, Carolina, Velasco, Àngela, Solanes, Ares, Iglesias, Sílvia, Urgel, Gisela, López, Consol, del Valle, Jesús, Campos, Olga, Santacana, Maria, Matias-Guiu, Xavier, Lázaro, Conxi, Valle, Laura, Brunet, Joan, Pineda, Marta, Capellá, Gabriel
Publicado 2020