Now showing items 1-3 of 3

    • Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation 

      Milos, Ioana N.; Frank-Raue, Karin; Wohllk, Nelson; Maia, Ana Luiza; Pusiol, Eduardo; Patocs, Attila; Robledo, Mercedes; Biarnes, Josefina; Barontini, Marta; Links, Thera P.; de Groot, Jan Willem; Dvorakova, Sarka; Peczkowska, Mariola; Rybicki, Lisa A.; Sullivan, Maren (2008)
      RET testing in multiple endocrine neoplasia type 2 for molecular diagnosis is the paradigm for the practice of clinical cancer genetics. However, precise data for distinct mutation-based risk profiles are not available. ...
    • Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study 

      Castinetti, Frederic; Waguespack, Steven G.; Machens, Andreas; Uchino, Shinya; Hasse-Lazar, Kornelia; Sanso, Gabriella; Else, Tobias; Dvorakova, Sarka; Qi, Xiao Ping; Elisei, Rossella; Maia, Ana Luisa; Glod, John; Lourenço, Delmar Muniz; Valdes, Nuria; Mathiesen, Jes; W (Lancet Publishing Group, 2019)
      © 2019 Elsevier LtdBackground: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine ...
    • Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study 

      Castinetti, Frederic; Qi, Xiao-Ping; Walz, Martin K.; Maia, Ana Luiza; Sansó, Gabriela; Peczkowska, Mariola; Hasse Lazar, Kornelia; Links, Thera P.; Dvorakova, Sarka; Toledo, Rodrigo A.; Mian, Caterina; Bugalho, Maria Joao; Wohllk González, Nelson; Kollyukh, Oleg; Canu, Letizia; Loli, Paola; Bergmann, Simona R.; Biarnes Costa, Josefina; Makay, Ozer; Patocs, Attila; Pfeifer, Marija; Shah, Nalini S.; Cuny, Thomas; Brauckhoff, Michael; Bausch, Birke; Von Dobschuetz, Ernst; Letizia, Claudio; Barczynski, Marcin; Alevizaki, Maria K.; Czetwertynska, Malgorzata; Ugurlu, M. Umit; Valk, Gerlof; Plukker, John T. M.; Sartorato, Paola; Siqueira, Debora R.; Barontini, Marta; Szperl, Malgorzata; Jarzab, Barbara; Verbeek, Hans H. G.; Zelinka, Tomas; Vlcek, Petr; Toledo, Sergio P. A.; Coutinho, Flavia L.; Mannelli, Massimo; Recasens, Mónica; Demarquet, Lea; Petramala, Luigi; Yaremchuk, Svetlana; Zabolotnyi, Dmitry; Schiavi, Francesca; Opocher, Giuseppe; Racz, Karoly; Januszewicz, Andrzej; Weryha, Georges; Henry, Jean Francois; Brue, Thierry; Conte Devolx, Bernard; Eng, Charis; Neumann, Hartmut P. H. (Elsevier, 2014)
      Background The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. ...