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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
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Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
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Published in Human mutation (01.01.2011)
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A HIF1α Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
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Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient Little mice
Peroni, Cibele N., Hayashida, Cesar Y., Nascimento, Nancy, Longuini, Viviane C., Toledo, Rodrigo A., Bartolini, Paolo, Bowers, Cyril Y., Toledo, Sergio P.A.
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Published in Clinics (São Paulo, Brazil) (01.01.2012)
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Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
Milgrom, Edwin, Ropers, Hans-Hilger, Themmen, Axel P.N, Brunner, Han G, Toledo, Sergio P.A, Fridman, Julia B, Hayashida, Cesar Y, Mariman, Edwin, Kraaij, Robert, Post, Miriam, Kremer, Hannie, Reen, Margo van
Published in Nature genetics (01.02.1995)
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Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS
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Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study
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
Published in The journal of clinical endocrinology and metabolism (01.11.2010)
Published in The journal of clinical endocrinology and metabolism (01.11.2010)
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Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2
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.
Published in Clinics (São Paulo, Brazil) (01.01.2012)
Published in Clinics (São Paulo, Brazil) (01.01.2012)
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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, 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
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Published in The lancet oncology (01.05.2014)
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In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas
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
Published in Endocrine-related cancer (01.06.2013)
Published in Endocrine-related cancer (01.06.2013)
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Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
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
Published in JAMA : the journal of the American Medical Association (15.12.2010)
Published in JAMA : the journal of the American Medical Association (15.12.2010)
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Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
Carvalho, Rafael A, Urtremari, Betsaida, Jorge, Alexander A L, Santana, Lucas S, Quedas, Elisangela P S, Sekiya, Tomoko, Longuini, Viviane C, Montenegro, Fabio L M, Lerario, Antonio M, Toledo, Sergio P A, Marx, Stephen J, Toledo, Rodrigo A, Lourenço, Delmar M
Published in European journal of endocrinology (01.12.2018)
Published in European journal of endocrinology (01.12.2018)
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Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation
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
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
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Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life
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
Published in The journal of clinical endocrinology and metabolism (01.01.2014)
Published in The journal of clinical endocrinology and metabolism (01.01.2014)
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Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients
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, Jr, Delmar M
Published in Thyroid (New York, N.Y.) (01.05.2017)
Published in Thyroid (New York, N.Y.) (01.05.2017)
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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
Toledo, Rodrigo A, Hatakana, Roxanne, Lourenço, Delmar M, Lindsey, Susan C, Camacho, Cleber P, Almeida, Marcio, Lima, José V, Sekiya, Tomoko, Garralda, Elena, Naslavsky, Michel S, Yamamoto, Guilherme L, Lazar, Monize, Meirelles, Osorio, Sobreira, Tiago J P, Lebrao, Maria Lucia, Duarte, Yeda A O, Blangero, John, Zatz, Mayana, Cerutti, Janete M, Maciel, Rui M B, Toledo, Sergio P A
Published in Endocrine-related cancer (01.02.2015)
Published in Endocrine-related cancer (01.02.2015)
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Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations
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
Published in European journal of endocrinology (01.09.2014)
Published in European journal of endocrinology (01.09.2014)
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p27 variant and corticotropinoma susceptibility: a genetic and in vitro study
Sekiya, Tomoko, Bronstein, Marcello D, Benfini, Katiuscia, Longuini, Viviane C, Jallad, Raquel S, Machado, Marcio C, Goncalves, Tatiana D, Osaki, Luciana H, Higashi, Leonardo, Viana-Jr, Jose, Kater, Claudio, Lee, Misu, Molatore, Sara, Francisco, Guilherme, Chammas, Roger, Naslavsky, Michel S, Schlesinger, David, Gama, Patricia, Duarte, Yeda A O, Lebrão, Maria Lucia, Zatz, Mayana, Meirelles, Osorio, Liberman, Bernardo, Fragoso, Maria Candida B V, Toledo, Sergio P A, Pellegata, Natalia S, Toledo, Rodrigo A
Published in Endocrine-related cancer (01.06.2014)
Published in Endocrine-related cancer (01.06.2014)
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