Browsing by Author "Oliveira, Carla"

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  • Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Sommer, Anna K.; Matalonga, Leslie; Starzynska, Teresa; Jakubowska, Anna; Solve-RD-GENTURIS group; van der Post, Rachel S.; Lubinski, Jan; Oliveira, Carla; Hoogerbrugge, Nicoline; de Voer, Richarda M. (Nature Research, 2021)
    Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification ...
  • São José, Celina; Laurie, Steven, 1973-; Oliveira, Carla (Springer, 2023)
    Background: Germline CDH1 pathogenic or likely pathogenic variants cause hereditary diffuse gastric cancer (HDGC). Once a genetic cause is identified, stomachs' and breasts' surveillance and/or prophylactic surgery is ...
  • Simões Correia, Joana; Figueiredo, Joana; Lopes, Rui; Stricher, François; Oliveira, Carla; Serrano Pubull, Luis, 1982-; Seruca, Raquel (Public Library of Science (PLoS), 2012)
    E-cadherin is critical for the maintenance of tissue architecture due to its role in cell-cell adhesion. E-cadherin mutations are the genetic cause of Hereditary Diffuse Gastric Cancer (HDGC) and missense mutations represent ...
  • Sommer, Anna K.; Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; Solve-RD-GENTURIS group; Oliveira, Carla; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan (Elsevier, 2022)
    Background: Patients and families with suspected, but genetically unexplained (unsolved) genetic tumour risk syndromes lack appropriate treatment and prevention, leading to preventable morbidity and mortality. To tackle ...
  • Ferreira, Pedro G.; Muñoz-Aguirre, Manuel; Reverter, Ferran; Godinho, Caio P. Sá; Sousa, Abel; Amadoz, Alicia; Sodaei, Reza, 1988-; Hidalgo, Marta R.; Pervouchine, Dmitri D.; Carbonell-Caballero, Jose; Nurtdinov, Ramil; Breschi, Alessandra, 1988-; Amador, Raziel; Oliveira, Patrícia; Çubut, Cankut; Curado, Joao; Aguet, François; Oliveira, Carla; Dopazo, Joaquín; Sammeth, Michael; Ardlie, Kristin G.; Guigó Serra, Roderic (Nature Publishing Group, 2018)
    Post-mortem tissues samples are a key resource for investigating patterns of gene expression. However, the processes triggered by death and the post-mortem interval (PMI) can significantly alter physiologically normal RNA ...

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