EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease
Vaidya, Anand, Flores, Shahida K, Cheng, Zi-Ming, Nicolas, Marlo, Deng, Yilun, Opotowsky, Alexander R, Lourenço, Delmar M, Barletta, Justine A, Rana, Huma Q, Pereira, M. Adelaide, Toledo, Rodrigo A, Dahia, Patricia L.M
Published in The New England journal of medicine (29.03.2018)
Published in The New England journal of medicine (29.03.2018)
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65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma
Neumann, Hartmut P, Young, William F, Krauss, Tobias, Bayley, Jean-Pierre, Schiavi, Francesca, Opocher, Giuseppe, Boedeker, Carsten C, Tirosh, Amit, Castinetti, Frederic, Ruf, Juri, Beltsevich, Dmitry, Walz, Martin, Groeben, Harald-Thomas, von Dobschuetz, Ernst, Gimm, Oliver, Wohllk, Nelson, Pfeifer, Marija, Lourenço, Delmar M, Peczkowska, Mariola, Patocs, Attila, Ngeow, Joanne, Makay, Özer, Shah, Nalini S, Tischler, Arthur, Leijon, Helena, Pennelli, Gianmaria, Villar Gómez de las Heras, Karina, Links, Thera P, Bausch, Birke, Eng, Charis
Published in Endocrine-related cancer (01.08.2018)
Published in Endocrine-related cancer (01.08.2018)
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Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma
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
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
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Editorial: Early Genetic and Clinical Diagnosis in MEN1
Lourenço, Jr, Delmar M, de Herder, Wouter W
Published in Frontiers in endocrinology (Lausanne) (15.04.2020)
Published in Frontiers in endocrinology (Lausanne) (15.04.2020)
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Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
Lourenço, Delmar M, Coutinho, Flavia L, Toledo, Rodrigo A, Montenegro, Fabio LM, Correia‐Deur, Joya EM, Toledo, Sergio PA
Published in Journal of bone and mineral research (01.11.2010)
Published in Journal of bone and mineral research (01.11.2010)
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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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High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene
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
Published in The journal of clinical endocrinology and metabolism (01.03.2010)
Published in The journal of clinical endocrinology and metabolism (01.03.2010)
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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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 after total parathyroidectomy
Coutinho, Flavia L., Lourenço Jr, Delmar M., Toledo, Rodrigo A., Montenegro, Fabio L. M., Correia-Deur, Joya E. M., Toledo, Sergio P. A.
Published in Clinical endocrinology (Oxford) (01.04.2010)
Published in Clinical endocrinology (Oxford) (01.04.2010)
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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
Fagundes, Gustavo F C, Petenuci, Janaina, Lourenco, Jr, Delmar M, Trarbach, Ericka B, Pereira, Maria Adelaide A, Correa D'Eur, Joya Emilie, Hoff, Ana O, Lerario, Antonio M, Zerbini, Maria Claudia N, Siqueira, Sheila, Yamauchi, Fernando, Srougi, Victor, Tanno, Fabio Y, Chambo, Jose Luis, Latronico, Ana Claudia, Mendonca, Berenice B, Fragoso, Maria Candida B V, Almeida, Madson Q
Published in Journal of the Endocrine Society (01.09.2019)
Published in Journal of the Endocrine Society (01.09.2019)
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Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors
Krauss, Tobias, Ferrara, Alfonso Massimiliano, Links, Thera P, Wellner, Ulrich, Bancos, Irina, Kvachenyuk, Andrey, Villar Gómez de las Heras, Karina, Yukina, Marina Y, Petrov, Roman, Bullivant, Garrett, von Duecker, Laura, Jadhav, Swati, Ploeckinger, Ursula, Welin, Staffan, Schalin-Jäntti, Camilla, Gimm, Oliver, Pfeifer, Marija, Ngeow, Joanne, Hasse-Lazar, Kornelia, Sansó, Gabriela, Qi, Xiaoping, Ugurlu, M Umit, Diaz, Rene E, Wohllk, Nelson, Peczkowska, Mariola, Aberle, Jens, Lourenço, Delmar M, Pereira, Maria A A, Fragoso, Maria C B V, Hoff, Ana O, Almeida, Madson Q, Violante, Alice H D, Quidute, Ana R P, Zhang, Zhewei, Recasens, Mònica, Díaz, Luis Robles, Kunavisarut, Tada, Wannachalee, Taweesak, Sirinvaravong, Sirinart, Jonasch, Eric, Grozinsky-Glasberg, Simona, Fraenkel, Merav, Beltsevich, Dmitry, Egorov, Viacheslav I, Bausch, Dirk, Schott, Matthias, Tiling, Nikolaus, Pennelli, Gianmaria, Zschiedrich, Stefan, Därr, Roland, Ruf, Juri, Denecke, Timm, Link, Karl-Heinrich, Zovato, Stefania, von Dobschuetz, Ernst, Yaremchuk, Svetlana, Amthauer, Holger, Makay, Özer, Patocs, Attila, Walz, Martin K, Huber, Tobias B, Seufert, Jochen, Hellman, Per, Kim, Raymond H, Kuchinskaya, Ekaterina, Schiavi, Francesca, Malinoc, Angelica, Reisch, Nicole, Jarzab, Barbara, Barontini, Marta, Januszewicz, Andrzej, Shah, Nalini, Young, William F, Opocher, Giuseppe, Eng, Charis, Neumann, Hartmut P H, Bausch, Birke
Published in Endocrine-related cancer (01.09.2018)
Published in Endocrine-related cancer (01.09.2018)
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Journal Article
RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma
Toledo, Rodrigo A, Maciel, Rui M B, Erlic, Zoran, Lourenço, Jr, Delmar M, Cerutti, Janete M, Eng, Charis, Neumann, Hartmut P, Toledo, Sergio P
Published in Thyroid (New York, N.Y.) (01.08.2015)
Published in Thyroid (New York, N.Y.) (01.08.2015)
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Journal Article
Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases
Araujo, Paula B., Carvallo, Mirna S., Vidal, Ana P., Nascimento, João B., Wo, Julia M., Naliato, Erika O., Cunha Neto, Silvio H., Conceição, Flavia L., Fontes, Rosita, de Lima, Vinicius V., Carvalho, Denise P., Soares, Paula, Lima, Jorge, Lourenço, Delmar M., Violante, Alice Helena D.
Published in Frontiers in endocrinology (Lausanne) (14.09.2022)
Published in Frontiers in endocrinology (Lausanne) (14.09.2022)
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Journal Article
Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2
Toledo, Rodrigo A., Sekiya, Tomoko, Horvath, Anelia, Faucz, Fabio, Fragoso, Maria C. B. V., Longuini, Viviane C., Lourenço Jr, Delmar M., Toledo, Sergio P. A., Stratakis, Constantine A.
Published in Clinical endocrinology (Oxford) (01.01.2012)
Published in Clinical endocrinology (Oxford) (01.01.2012)
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