Browsing by Author "da4fe8c5-d0a3-424c-85b5-7bfa82f916c9"

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    • Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A ... 
      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: ... 
      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 (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 ...