Germline mutations in TMEM127 confer susceptibility to pheochromocytoma von King, Elizabeth E, Yao, Li, Lechleiter, James D, Aronin, Neil, Opocher, Giuseppe, Boaretto, Francesca, Chocron, E Sandra, Lenci, Romina E, Stiles, Charles, Buddavarapu, Kalyan, Toledo, Sergio P A, Dahia, Patricia L M, Schiavi, Francesca, Qin, Yuejuan, Sass, Meghan, Aguiar, Ricardo C T, Toledo, Rodrigo A

Volltext

Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS von Agrawal, Nishant, Jiao, Yuchen, Sausen, Mark, Leary, Rebecca, Bettegowda, Chetan, Roberts, Nicholas J, Bhan, Sheetal, Ho, Allen S, Khan, Zubair, Bishop, Justin, Westra, William H, Wood, Laura D, Hruban, Ralph H, Tufano, Ralph P, Robinson, Bruce, Dralle, Henning, Toledo, Sergio P. A, Toledo, Rodrigo A, Morris, Luc G. T, Ghossein, Ronald A, Fagin, James A, Chan, Timothy A, Velculescu, Victor E, Vogelstein, Bert, Kinzler, Kenneth W, Papadopoulos, Nickolas, Nelkin, Barry D, Ball, Douglas W

Volltext

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas von Toledo, Rodrigo A, Qin, Yuejuan, Srikantan, Subramanya, Morales, Nicole Paes, Li, Qun, Deng, Yilun, Kim, Sang-Woo, Pereira, Maria Adelaide A, Toledo, Sergio P A, Su, Xiaoping, Aguiar, Ricardo C T, Dahia, Patricia L M

Volltext

Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas von Yao, Li, Schiavi, Francesca, Cascon, Alberto, Qin, Yuejuan, Inglada-Pérez, Lucia, King, Elizabeth E, Toledo, Rodrigo A, Ercolino, Tonino, Rapizzi, Elena, Ricketts, Christopher J, Mori, Luigi, Giacchè, Mara, Mendola, Antonella, Taschin, Elisa, Boaretto, Francesca, Loli, Paola, Iacobone, Maurizio, Rossi, Gian-Paolo, Biondi, Bernadette, Lima-Junior, José Viana, Kater, Claudio E, Bex, Marie, Vikkula, Miikka, Grossman, Ashley B, Gruber, Stephen B, Barontini, Marta, Persu, Alexandre, Castellano, Maurizio, Toledo, Sergio P. A, Maher, Eamonn R, Mannelli, Massimo, Opocher, Giuseppe, Robledo, Mercedes, Dahia, Patricia L. M

Volltext

Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2 von Tavares, Marcos R., Toledo, Sérgio P.A., Montenegro, Fábio L.M., Moyses, Raquel A., Toledo, Rodrigo A., Sekyia, Tomoko, Cernea, Claudio R., Brandão, Lenine G.

Volltext

Novel pheochromocytoma susceptibility loci identified by integrative genomics von DAHIA, Patricia L. M, KE HAO, CHENG LI, TOLEDO, Sérgio P. A, STILES, Charles D, ROGUS, John, COLIN, Christian, PUJANA, Miguel A. G, ROSS, Ken, MAGOFFIN, Danielle, ARONIN, Neil, CASCON, Alberto, HAYASHIDA, César Y

Volltext

Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma von Toledo, Rodrigo A., Lourenço, Delmar M., Liberman, Bernardo, Cunha-Neto, Malebranche B. C., Cavalcanti, Maria G., Moyses, Cinthia B., Toledo, Sergio P. A., Dahia, Patricia L. M.

Volltext

Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism von Lourenço, Delmar M, Coutinho, Flavia L, Toledo, Rodrigo A, Montenegro, Fabio LM, Correia‐Deur, Joya EM, Toledo, Sergio PA

Volltext

Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study von Daly, Adrian F, Tichomirowa, Maria A, Petrossians, Patrick, Heliövaara, Elina, Jaffrain-Rea, Marie-Lise, Barlier, Anne, Naves, Luciana A, Ebeling, Tapani, Karhu, Auli, Raappana, Antti, Cazabat, Laure, De Menis, Ernesto, Montañana, Carmen Fajardo, Raverot, Gerald, Weil, Robert J, Sane, Timo, Maiter, Dominique, Neggers, Sebastian, Yaneva, Maria, Tabarin, Antoine, Verrua, Elisa, Eloranta, Eija, Murat, Arnaud, Vierimaa, Outi, Salmela, Pasi I, Emy, Philippe, Toledo, Rodrigo A, Sabaté, Maria Isabel, Villa, Chiara, Popelier, Marc, Salvatori, Roberto, Jennings, Juliet, Longás, Ángel Ferrandez, Labarta Aizpún, José Ignacio, Georgitsi, Marianthi, Paschke, Ralf, Ronchi, Cristina, Valimaki, Matti, Saloranta, Carola, De Herder, Wouter, Cozzi, Renato, Guitelman, Mirtha, Magri, Flavia, Lagonigro, Maria Stefania, Halaby, Georges, Corman, Vinciane, Hagelstein, Marie-Thérèse, Vanbellinghen, Jean-François, Barra, Gustavo Barcelos, Gimenez-Roqueplo, Anne-Paule, Cameron, Fergus J, Borson-Chazot, Françoise, Holdaway, Ian, Toledo, Sergio P. A, Stalla, Günter K, Spada, Anna, Zacharieva, Sabina, Bertherat, Jerome, Brue, Thierry, Bours, Vincent, Chanson, Philippe, Aaltonen, Lauri A, Beckers, Albert

Volltext

Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life von Gonçalves, Tatiana D, Toledo, Rodrigo A, Sekiya, Tomoko, Matuguma, Sergio E, Maluf Filho, Fauze, Rocha, Manoel S, Siqueira, Sheila A. C, Glezer, Andrea, Bronstein, Marcelo D, Pereira, Maria A. A, Jureidini, Ricardo, Bacchella, Telesforo, Machado, Marcel C. C, Toledo, Sergio P. A, Lourenço, Delmar M

Volltext

Hypercalcitoninemia is not Pathognomonic of Medullary Thyroid Carcinoma von Toledo, Sergio PA, Lourenço, Delmar M, Santos, Marcelo Augusto, Tavares, Marcos R, Toledo, Rodrigo A, de Menezes Correia-Deur, Joya Emilie

Volltext

Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation von Toledo, Sergio P. A, Lourenço, Delmar M, Sekiya, Tomoko, Lucon, Antonio M, Baena, Marcos E. S, Castro, Claudio C, Bortolotto, Luiz A, Zerbini, Maria C. N, Siqueira, Sheila A. C, Toledo, Rodrigo A, Dahia, Patricia L. M

Volltext

Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients von Rodrigues, Karine C., Toledo, Rodrigo A., Coutinho, Flavia L., Nunes, Adriana B., Maciel, Rui M.B., Hoff, Ana O., Tavares, Marcos C., Toledo, Sergio P. A., Lourenço, Delmar M.

Volltext

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 von Frank-Raue, Karin, Rybicki, Lisa A., Erlic, Zoran, Schweizer, Heiko, Winter, Aurelia, Milos, Ioana, Toledo, Sergio P.A., Toledo, Rodrigo A., Tavares, Marcos R., Alevizaki, Maria, Mian, Caterina, Siggelkow, Heide, Hüfner, Michael, Wohllk, Nelson, Opocher, Giuseppe, Dvořáková, Šárka, Bendlova, Bela, Czetwertynska, Małgorzata, Skasko, Elżbieta, Barontini, Marta, Sanso, Gabriela, Vorländer, Christian, Maia, Ana Luiza, Patocs, Attila, Links, Thera P., de Groot, Jan Willem, Kerstens, Michiel N., Valk, Gerlof D., Miehle, Konstanze, Musholt, Thomas J., Biarnes, Josefina, Damjanovic, Svetozar, Muresan, Mihaela, Wüster, Christian, Fassnacht, Martin, Peczkowska, Mariola, Fauth, Christine, Golcher, Henriette, Walter, Martin A., Pichl, Josef, Raue, Friedhelm, Eng, Charis, Neumann, Hartmut P.H.

Volltext

Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 after total parathyroidectomy von Coutinho, Flavia L., Lourenço Jr, Delmar M., Toledo, Rodrigo A., Montenegro, Fabio L. M., Correia-Deur, Joya E. M., Toledo, Sergio P. A.

Volltext

Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation von Syro, Luis V., Sundsbak, Jamie L., Scheithauer, Bernd W., Toledo, Rodrigo A., Camargo, Mauricio, Heyer, Christina M., Sekiya, Tomoko, Uribe, Humberto, Escobar, Jorge I., Vasquez, Martin, Rotondo, Fabio, Toledo, Sergio P. A., Kovacs, Kalman, Horvath, Eva, Babovic-Vuksanovic, Dusica, Harris, Peter C.

Volltext

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations von Longuini, Viviane C, Lourenço, Delmar M, Sekiya, Tomoko, Meirelles, Osorio, Goncalves, Tatiana D, Coutinho, Flavia L, Francisco, Guilherme, Osaki, Luciana H, Chammas, Roger, Alves, Venancio A F, Siqueira, Sheila A C, Schlesinger, David, Naslavsky, Michel S, Zatz, Mayana, Duarte, Yeda A O, Lebrão, Maria Lucia, Gama, Patricia, Lee, Misu, Molatore, Sara, Pereira, Maria Adelaide A, Jallad, Raquel S, Bronstein, Marcello D, Cunha-Neto, Malebranche B, Liberman, Bernardo, Fragoso, Maria Candida B V, Toledo, Sergio P A, Pellegata, Natalia S, Toledo, Rodrigo A

Volltext

High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene von Toledo, Rodrigo A, Wagner, Simona M, Coutinho, Flavia L, Lourenço, Delmar M, Azevedo, Juliana A, Longuini, Viviane C, Reis, Mariana T. A, Siqueira, Sheila A. C, Lucon, Antonio M, Tavares, Marcos R, Fragoso, Maria C. B. V, Pereira, Adelaide A, Dahia, Patricia L. M, Mulligan, Lois M, Toledo, Sergio P. A

Volltext

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based... von Castinetti, Frederic, Dr, Qi, Xiao-Ping, Prof, Walz, Martin K, Prof, Maia, Ana Luiza, MD, Sansó, Gabriela, PhD, Peczkowska, Mariola, MD, Hasse-Lazar, Kornelia, MD, Links, Thera P, MD, Dvorakova, Sarka, PhD, Toledo, Rodrigo A, PhD, Mian, Caterina, MD, Bugalho, Maria Joao, PhD, Wohllk, Nelson, MD, Kollyukh, Oleg, MD, Canu, Letizia, MD, Loli, Paola, MD, Bergmann, Simona R, MD, Costa, Josefina Biarnes, MD, Makay, Ozer, MD, Patocs, Attila, MD, Pfeifer, Marija, MD, Shah, Nalini S, MD, Cuny, Thomas, MD, Brauckhoff, Michael, Prof, Bausch, Birke, MD, von Dobschuetz, Ernst, MD, Letizia, Claudio, MD, Barczynski, Marcin, MD, Alevizaki, Maria K, Prof, Czetwertynska, Malgorzata, MD, Ugurlu, M Umit, MD, Valk, Gerlof, MD, Plukker, John T M, Prof, Sartorato, Paola, MD, Siqueira, Debora R, MD, Barontini, Marta, MD, Szperl, Malgorzata, PhD, Jarzab, Barbara, MD, Verbeek, Hans H G, MD, Zelinka, Tomas, MD, Vlcek, Petr, Prof, Toledo, Sergio P A, MD, Coutinho, Flavia L, MD, Mannelli, Massimo, Prof, Recasens, Monica, MD, Demarquet, Lea, MD, Petramala, Luigi, MD, Yaremchuk, Svetlana, MD, Zabolotnyi, Dmitry, MD, Schiavi, Francesca, PhD, Opocher, Giuseppe, MD, Racz, Karoly, MD, Januszewicz, Andrzej, MD, Weryha, Georges, Prof, Henry, Jean-Francois, Prof, Brue, Thierry, Prof, Conte-Devolx, Bernard, Prof, Eng, Charis, Prof, Neumann, Hartmut P H, Prof

Volltext

A differential diagnosis of inherited endocrine tumors and their tumor counterparts von Toledo, Sergio P.A., Lourenço, Delmar M., Toledo, Rodrigo A.

Volltext