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TÍTULO: 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 Syndromes  Full Text
AUTORES: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...Mais
PUBLICAÇÃO: 2023, FONTE: LANCET ONCOLOGY, VOLUME: 24, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 14
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TÍTULO: A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
AUTORES: te Paske, IBAW; Garcia Pelaez, J; Sommer, AK; Matalonga, L; Starzynska, T; Jakubowska, A; Valle, L; Capella, G; Aretz, S; Holinski Feder, E; Steinke Lange, V; Laner, A; Schrock, E; Rump, A; Ligtenberg, M; Hoischen, A; Geverink, N; Evans, DG; Tischkowitz, M; Laurie, S; van der Post, RS; Lubinski, J; Oliveira, C; Hoogerbrugge, N; de Voer, RM; ...Mais
PUBLICAÇÃO: 2021, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXADO EM: WOS
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TÍTULO: Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
AUTORES: Frebourg, T; Bajalica Lagercrantz, S; Oliveira, C; Magenheim, R; Evans, DG; Hoogerbrugge, N; Ligtenberg, M; Kets, M; Oostenbrink, R; Sijmons, R; Evans, G; Woodward, E; Tischkowitz, M; Maher, E; Ferner, RE; Aretz, S; Spier, I; Steinke Lange, V; Holinski Feder, E; Schröck, E; Frebourg, T; Houdayer, C; Colas, C; Wolkenstein, P; Bours, V; Legius, E; Poppe, B; Claes, K; de Putter, R; Guillermo, IB; Capella, G; Vidal, JB; Lázaro, C; Balmaña, J; Hernandez, HS; Oliveira, C; Teixeira, M; Bajalica Lagercrantz, S; Tham, E; Lubinski, J; Ertmanska, K; Melegh, B; Krajc, M; Blatnik, A; Peltonen, S; Hietala, M; ...Mais
PUBLICAÇÃO: 2020, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, NÚMERO: 10
INDEXADO EM: Scopus WOS
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TÍTULO: Reply to Kratz et al.
AUTORES: Frebourg, T; Lagercrantz, SB; Oliveira, C; Magenheim, R; Evans, DG; Hoogerbrugge, N; Ligtenberg, M; Oostenbrink, R; Sijmons, R; Woodward, E; Tischkowitz, M; Maher, E; Ferner, RE; Aretz, S; Spier, I; Steinke Lange, V; Holinski Feder, E; Schröck, E; Frebourg, T; Houdayer, C; Colas, C; Wolkenstein, P; Bours, V; Legius, E; Poppe, B; Claes, K; de Putter, R; Guillermo, IB; Capella, G; Vidal, JB; Lázaro, C; Balmaña, J; Hernandez, HS; Teixeira, M; Tham, E; Jan, L; Ertmanska, K; Melegh, B; Krajc, M; Blatnik, A; Peltonen, S; Hietala, M; ...Mais
PUBLICAÇÃO: 2020, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, NÚMERO: 11
INDEXADO EM: Scopus WOS
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TÍTULO: Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTORES: Janet R Vos; Lisette Giepmans; Claas Roehl; Nicoline Geverink; Nicoline Hoogerbrugge; Marjolijn Ligtenberg; Marleen Kets; Rolf Sijmons; Gareth Evans; Emma Woodward; Marc Tischkowitz; Eamonn Maher; Verena Steinke Lange; Elke Holinski Feder; Thierry Frebourg; Claude Houdayer; Rosalie E Ferner; Jan Lubinski; Karolina Ertmanska; Svetlana B Bajalica Lagercrantz; Emma Tham; Ignacio Blanco Guillermo; Gabriel Capella; Joan Brunet Vidal; Conxi Lazaro; Judith Balmana; Vincent Bours; Eric Legius; Pierre Wolkenstein; Bela Melegh; Carla Oliveira; Manuel Teixeira ; Bruce Poppe; Kathleen Claes; Hector Salvador Hernandez; Stefan Aretz; Isabel Spier; Rianne Oostenbrink; Mateja Krajc; Ana Blatnik; Evelin Schrock; Sirkku Peltonen; Marja Hietala; ...Mais
PUBLICAÇÃO: 2019, FONTE: FAMILIAL CANCER, VOLUME: 18, NÚMERO: 2
INDEXADO EM: WOS CrossRef: 16
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TÍTULO: Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a multi-institutional research study  Full Text
AUTORES: Cecily P Vaughn; Jose Luis Costa; Harriet E Feilotter; Rosella Petraroli; Varun Bagai; Anna Maria Rachiglio; Federica Zito Marino; Bastiaan Tops; Henriette M Kurth; Kazuko Sakai; Andrea Mafficini; Roy R L Bastien; Anne Reiman; Delphine Le Corre; Alexander Boag; Susan Crocker; Michel Bihl; Astrid Hirschmann; Aldo Scarpa; Jose Carlos Machado ; Helene Blons; Orla Sheils; Kelli Bramlett; Marjolijn J L Ligtenberg; Ian A Cree; Nicola Normanno; Kazuto Nishio; Pierre Laurent Puig; ...Mais
PUBLICAÇÃO: 2018, FONTE: BMC CANCER, VOLUME: 18, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 17
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TÍTULO: Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
AUTORES: Robbert D A Weren; Rachel S van der Post; Ingrid P Vogelaar; Han H van Krieken; Liesbeth Spruijt; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Carla Oliveira; Eveline J Kamping; Hans K Schackert; Guglielmina N Ranzani; Encarna Gomez G Garcia; Frederik J Hes; Elke Holinski Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H Sijmons; Anja Wagner; Lizet E van der Kolk; Annemieke Cats; Inga Bjornevoll; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; ...Mais
PUBLICAÇÃO: 2018, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 55, NÚMERO: 10
INDEXADO EM: Scopus WOS CrossRef: 26
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TÍTULO: Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL  Full Text
AUTORES: Deans, ZC; Costa, JL; Cree, I; Dequeker, E; Edsjö, A; Henderson, S; Hummel, M; Ligtenberg, MJ; Loddo, M; Machado, JC ; Marchetti, A; Marquis, K; Mason, J; Normanno, N; Rouleau, E; Schuuring, E; Snelson, KM; Thunnissen, E; Tops, B; Williams, G; van Krieken, H; Hall, JA; On Behalf Of Iqn Path Asbl, ; ...Mais
PUBLICAÇÃO: 2017, FONTE: VIRCHOWS ARCHIV, VOLUME: 470, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 61
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TÍTULO: Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing  Full Text
AUTORES: Ingrid P Vogelaar; Rachel S van der Post; Han H J M van Krieken; Liesbeth Spruijt; Wendy A G van Zelst Stams; Marleen M Kets; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Hugo Pinheiro; Carla Oliveira; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joep de Ligt; Lisenka E L M Vissers; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Jelle J Goeman; Hans K Schackert; Guglielmina N Ranzani; Valeria Molinaro; Encarna Gomez G Garcia; Frederik J Hes; Elke Holinski Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H Sijmons; Anja Wagner; Lizet E van der Kolk; Inga Bjornevoll; Hildegunn Hoberg Vetti; Ad Geurts van Kessel; Roland P Kuiper; Marjolijn J L Ligtenberg; Nicoline Hoogerbrugge; ...Mais
PUBLICAÇÃO: 2017, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef: 26
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TÍTULO: Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect  Full Text
AUTORES: Ingrid P Vogelaar; International Gastric Cancer Genetics Group, ; Marjolijn J L Ligtenberg; Rachel S van der Post; Richarda M de Voer; Marleen M Kets; Trees J G Jansen; Liesbeth Jacobs; Gerty Schreibelt; Jolanda J M de Vries; Mihai G Netea; Nicoline Hoogerbrugge;
PUBLICAÇÃO: 2016, FONTE: Familial Cancer, VOLUME: 15, NÚMERO: 2
INDEXADO EM: Scopus CrossRef: 6
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