Browsing by Author Genuardi, Maurizio
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 20-Dec-2013 | Application of a 5-tiered scheme for standardized classification of 2,360 Unique mismatch repair gene variants in the InSiGHT locus-specific database | Thompson, Bryony A.; Spurdle, Amanda B.; Plazzer, John-Paul; Greenblatt, Marc S.; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, G. (Gabriel); Dunnen, Johan T. den; Sart, Desiree du; Fabre, Aurelie; Farrell, Michael P.; Farrington, Susan M.; Frayling, Ian M.; Frebourg, Thierry; Goldgar, David E.; Heinen, Christopher D.; Holinski-Feder, Elke; Kohonen-Corish, Maija; Lagerstedt Robinson, Kristina; Leung, Suet Yi; Martins, Alexandra; Møller, Pål; Morak, Monika; Nystrom, Minna; Peltomäki, Päivi; Pineda Riu, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J.; Sijmons, Rolf; Tavtigian, Sean V.; Tops, Carli M.; Weber, Thomas; Wijnen, Juul; Woods, Michael O.; Macrae, Finlay; Genuardi, Maurizio; InSiGHT |
| 28-Jul-2017 | Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database | Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski Feder, Elke; Sala, Paulo; Gareth Evans, D.; Lindblom, Annika; Macrae, Finlay; Blanco Guillermo, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul T.; Jenkins, Mark A.; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda Riu, Marta; Navarro García, Matilde; Morak, Monika; Renkonen Sinisalo, Laura; Dominguez Valentin, Mev; Frayling, Ian M.; Plazzer, John Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Moeslein, Gabriela; Sampson, Julian R.; Capellá, G. (Gabriel); Mallorca Group |
| 10-Oct-2017 | Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database | Seppälä, Toni T.; Pylvänäinen, Kirsi; Evans, D. Gareth; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Lindblom, Annika; Macrae, Finlay; Blanco, Inlay; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; De Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul; Jenkins, Mark A.; Genuardi, Maurizio; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda Riu, Marta; Navarro, Matilde; Morak, Monika; Frayling, Ian M.; Plazzer, John-Paul; Sampson, Julian R.; Capellá, G. (Gabriel); Möslein, Gabriela; Mecklin, Jukka-Pekka; Møller, Pål; Mallorca Group |
| 1-Jan-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 Syndromes | 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; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; Putter, Robin de; 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 |
| 1-Dec-2022 | Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Hendricks, Linda A.J.; Hoogerbrugge, Nicoline; Venselaar, Hanka; Aretz, Stefan; Spier, Isabel; Legius, Eric; Brems, Hilde; De Putter, Robin; Claes, Kathleen B.M.; Evans, D. Gareth; Woodward, Emma R.; Genuardi, Maurizio; Brugnoletti, Fulvia; Van Ierland, Yvette; Dijke, Kim; Tham, Emma; Tesi, Bianca; Schuurs Hoeijmakers, Janneke H.M.; Branchaud, Maud; Salvador, Hector; Jahn, Arne; Schnaiter, Simon; Anastasiadou, Violetta Christophidou; Brunet, Joan; Oliveira, Carla; Roht, Laura; Blatnik, Ana; Irmejs, Arvids; Mensenkamp, Arjen R.; Vos, Janet R.; Duijkers, Floor; Giltay, Jacques C.; Van Hest, Liselotte P.; Kleefstra, Tjitske; Leter, Edward M.; Nielsen, Maartje; Nijmeijer, Sebastiaan W.R.; Olderode-berends, Maran J.W. |
| Sep-2017 | Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database | Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski Feder, Elke; Sala, Paulo; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco Guillermo, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul T.; Jenkins, Mark A.; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda Riu, Marta; Navarro García, Matilde; Morak, Monika; Renkonen Sinisalo, Laura; Frayling, Ian M.; Plazzer, John Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R.; Capellá, G. (Gabriel); Mallorca Group |
| Oct-2018 | Primary constitutional MLH1 epimutations: a focal epigenetic event | Dámaso, Estela; Castillejo, Adela; Arias, María del Mar; Canet Hermida, Júlia; Navarro, Matilde; Valle Domínguez, Jesús del; Campos, Olga; Fernández, Anna; Marín, Fátima; Turchetti, Daniela; García Díaz, Juan de Dios; Lázaro García, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Ángel; Soto, Jose Luis; Hitchins, Megan; Pineda Riu, Marta; Capellá, G. (Gabriel) |