Search Results - "Delmar, M"

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease by 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

“…Four of five patients with paragangliomas and pheochromocytomas who had received a diagnosis of congenital cyanotic heart disease had mutant HIF-2α. This…”
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65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma by 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

“…Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether…”
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Editorial: Early Genetic and Clinical Diagnosis in MEN1 by Lourenço, Jr, Delmar M, de Herder, Wouter W

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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 by Lourenço, Delmar M, Coutinho, Flavia L, Toledo, Rodrigo A, Montenegro, Fabio LM, Correia‐Deur, Joya EM, Toledo, Sergio PA

“…Differences in bone mineral density (BMD) patterns have been recently reported between multiple endocrine neoplasia type 1–related primary hyperparathyroidism…”
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Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients by 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

“…Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce. The aim of this study was to assess anxiety, depression, quality of life,…”
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Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1 by Marx, Stephen J, Lourenço, Jr, Delmar M

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High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene by 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

“…Context: Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes…”
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Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma by 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.

“…Context: Acromegaly is usually sporadic, but familial cases occur in association with several familial pituitary tumor syndromes. Recently mutations in the…”
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Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing by 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

“…Background Loss-of-function germline MEN1 gene mutations account for 75–95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated…”
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Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation by 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

“…Context: The phenotype of familial pheochromocytoma (PHEO) associated with germline TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined…”
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Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life by 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

“…Context: Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and…”
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Complete resolution of hypercortisolism with sorafenib in a patient with advanced medullary thyroid carcinoma and ectopic ACTH (adrenocorticotropic hormone) syndrome by Barroso-Sousa, Romualdo, Lerario, Antonio Marcondes, Evangelista, Joao, Papadia, Carla, Lourenço, Jr, Delmar M, Lin, Chin Shien, Kulcsar, Marco Antonio, Fragoso, Maria Candida, Hoff, Ana O

“…The treatment of advanced medullary thyroid carcinoma (MTC) has evolved significantly over the past decade. The discovery of genetic abnormalities in MTC has…”
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Hypercalcitoninemia is not Pathognomonic of Medullary Thyroid Carcinoma by Toledo, Sergio PA, Lourenço, Delmar M, Santos, Marcelo Augusto, Tavares, Marcos R, Toledo, Rodrigo A, de Menezes Correia-Deur, Joya Emilie

“…Hypercalcitoninemia has frequently been reported as a marker for medullary thyroid carcinoma. Currently, calcitonin measurements are mostly useful in the…”
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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility by 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

“…Accurate interpretation of germline mutations of the rearranged during transfection (RET) proto-oncogene is vital for the proper recommendation of preventive…”
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Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations by 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

“…ObjectiveTo date, no evidence of robust genotype–phenotype correlation or disease modifiers for multiple endocrine neoplasia type 1 (MEN1) syndrome has been…”
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Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 after total parathyroidectomy by Coutinho, Flavia L., Lourenço Jr, Delmar M., Toledo, Rodrigo A., Montenegro, Fabio L. M., Correia-Deur, Joya E. M., Toledo, Sergio P. A.

“…Summary Objective  Limited data have been reported on the effect of parathyroidectomy (PTx) on bone mineral density (BMD) in the setting of patients with…”
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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations by 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

“…Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the gene. Guidelines recommend pheochromocytoma (PHEO)…”
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Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors by 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

“…Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel–Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for…”
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RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma by Toledo, Rodrigo A, Maciel, Rui M B, Erlic, Zoran, Lourenço, Jr, Delmar M, Cerutti, Janete M, Eng, Charis, Neumann, Hartmut P, Toledo, Sergio P

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Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases by 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.

“…Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell…”
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