Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis
Perne, Claudia, Peters, Sophia, Cartolano, Maria, Horpaopan, Sukanya, Grimm, Christina, Altmüller, Janine, Sommer, Anna K, Hillmer, Axel M, Thiele, Holger, Odenthal, Margarete, Möslein, Gabriela, Adam, Ronja, Sivalingam, Sugirthan, Kirfel, Jutta, Schweiger, Michal R, Peifer, Martin, Spier, Isabel, Aretz, Stefan
Published in PloS one (29.11.2021)
Published in PloS one (29.11.2021)
Get full text
Journal Article
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
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
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
Get full text
Journal Article
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
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, Capella, Gabriel, Evans, Gareth, Rump, Andreas, Schröck, Evelin, Hoischen, Alexander, Geverink, Nicoline, Tischkowitz, Marc, Matalonga, Leslie, Laurie, Steven, Gilissen, Christian, Steyaert, Wouter, Demidov, German, Oliveira, Carla, de Voer, Richarda M., Hoogerbrugge, Nicoline, Aretz, Stefan
Published in European journal of medical genetics (01.05.2022)
Published in European journal of medical genetics (01.05.2022)
Get full text
Journal Article
Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Soares de Lima, Yasmin, Arnau-Collell, Coral, Muñoz, Jenifer, Herrera-Pariente, Cristina, Moreira, Leticia, Ocaña, Teresa, Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Cuatrecasas, Miriam, Carballal, Sabela, Lopez-Novo, Anael, Moreno, Lorena, Fernàndez, Guerau, Díaz de Bustamante, Aranzazu, Peters, Sophia, Sommer, Anna K, Spier, Isabel, te Paske, Iris B A W, van Herwaarden, Yasmijn J, Castells, Antoni, Bujanda, Luis, Capellà, Gabriel, Steinke-Lange, Verena, Mahmood, Khalid, Joo, JiHoon Eric, Arnold, Julie, Parry, Susan, Macrae, Finlay A, Winship, Ingrid M, Rosty, Christophe, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Holinski-Feder, Elke, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, Castellvi-Bel, Sergi
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
Get full text
Journal Article