EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease von 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

Volltext

Editorial: Early Genetic and Clinical Diagnosis in MEN1 von Lourenco, Delmar M., de Herder, Wouter W.

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

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma von 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

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

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

Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1 von Marx, Stephen J, Lourenço, Jr, Delmar M

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

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

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

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing von 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

Volltext

Complete Resolution of Hypercortisolism with Sorafenib in a Patient with Advanced Medullary Thyroid Carcinoma and Ectopic ACTH (Adrenocorticotropic Hormone) Syndrome von Barroso-Sousa, Romualdo, Lerario, Antonio Marcondes, Evangelista, Joao, Papadia, Carla, Lourenço, Delmar M., Lin, Chin Shien, Kulcsar, Marco Antonio, Fragoso, Maria Candida, Hoff, Ana O.

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

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility von 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

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

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

RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma von Toledo, Rodrigo A., Maciel, Rui M.B., Erlic, Zoran, Lourenço, Delmar M., Cerutti, Janete M., Eng, Charis, Neumann, Hartmut P., Toledo, Sergio P.

Volltext

Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1 von Lourenço, Delmar M, Coutinho, Flavia L., Toledo, Rodrigo A., Gonçalves, Tatiana Denck, Montenegro, Fabio L.M., Toledo, Sergio P.A.

Volltext

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

Volltext

Quality of Life and Coping in Multiple Endocrine Neoplasia Type 2 von Correa, Fernanda A, Farias, Evelin C, Castroneves, Luciana A, Lourenço, Jr, Delmar M, Hoff, Ana O

Volltext