Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges

por Garcia‐Pelaez, José, Barbosa‐Matos, Rita, Gullo, Irene, Carneiro, Fátima, Oliveira, Carla
Publicado 2021

A systematic review of genetic mutations in pulmonary arterial hypertension

por Garcia-Rivas, Gerardo, Jerjes-Sánchez, Carlos, Rodriguez, David, Garcia-Pelaez, José, Trevino, Victor
Publicado 2017

PubTerm: a web tool for organizing, annotating and curating genes, diseases, molecules and other concepts from PubMed records

por Garcia-Pelaez, José, Rodriguez, David, Medina-Molina, Roberto, Garcia-Rivas, Gerardo, Jerjes-Sánchez, Carlos, Trevino, Victor
Publicado 2019

A systematic review and functional bioinformatics analysis of genes associated with Crohn’s disease identify more than 120 related genes

por Garza-Hernandez, Debora, Sepulveda-Villegas, Maricruz, Garcia-Pelaez, Jose, Aguirre-Gamboa, Raul, Lakatos, Peter L., Estrada, Karol, Martinez-Vazquez, Manuel, Trevino, Victor
Publicado 2022

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

por te Paske, Iris B. A. W., Garcia-Pelaez, José, Sommer, Anna K., Matalonga, Leslie, Starzynska, Teresa, Jakubowska, Anna, van der Post, Rachel S., Lubinski, Jan, Oliveira, Carla, Hoogerbrugge, Nicoline, de Voer, Richarda M.
Publicado 2021

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

por Barbosa-Matos, Rita, Leal Silva, Rafaela, Garrido, Luzia, Aguiar, Ana Cerqueira, Garcia-Pelaez, José, André, Ana, Seixas, Susana, Sousa, Sónia Passos, Ferro, Luísa, Vilarinho, Lúcia, Gullo, Irene, Devezas, Vitor, Oliveira, Renata, Fernandes, Susana, Costa, Susy Cabral, Magalhães, André, Baptista, Manuela, Carneiro, Fátima, Pinheiro, Hugo, Castedo, Sérgio, Oliveira, Carla
Publicado 2021

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

por São José, Celina, Garcia-Pelaez, José, Ferreira, Marta, Arrieta, Oscar, André, Ana, Martins, Nelson, Solís, Samantha, Martínez-Benítez, Braulio, Ordóñez-Sánchez, María Luisa, Rodríguez-Torres, Maribel, Sommer, Anna K., te Paske, Iris B. A. W., Caldas, Carlos, Tischkowitz, Marc, Tusié, Maria Teresa, Hoogerbrugge, Nicoline, Demidov, German, de Voer, Richarda M., Laurie, Steve, Oliveira, Carla
Publicado 2023

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk...

por Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla
Publicado 2023