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EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease
EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease
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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

The New England journal of medicine, 2018-03, Vol.378 (13), p.1259-1261 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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2
Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma
Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma
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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

The journal of clinical endocrinology and metabolism, 2007-05, Vol.92 (5), p.1934-1937 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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3
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
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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

Journal of bone and mineral research, 2010-11, Vol.25 (11), p.2382-2391 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients
Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients
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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, Delmar M.

Thyroid (New York, N.Y.), 2017-05, Vol.27 (5), p.693-706 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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5
Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy
Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy
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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

de Carvalho, Luciana Martins ; Ngoumou, Gonza ; Park, Ji Woo ; Ehmke, Nadja ; Deigendesch, Nikolaus ; Kitabayashi, Naoki ; Melki, Isabelle ; Souza, Flávio Falcäo L. ; Tzschach, Andreas ; Nogueira‐Barbosa, Marcello H. ; Ferriani, Virgínia ; Louzada‐Junior, Paulo ; Marques, Wilson ; Lourenço, Charles M. ; Horn, Denise ; Kallinich, Tilmann ; Stenzel, Werner ; Hur, Sun ; Rice, Gillian I. ; Crow, Yanick J.

Arthritis & rheumatology (Hoboken, N.J.), 2017-10, Vol.69 (10), p.2081-2091 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Sidhu, Rohini ; Kell, Pamela ; Dietzen, Dennis J. ; Farhat, Nicole Y. ; Do, An Ngoc Dang ; Porter, Forbes D. ; Berry-Kravis, Elizabeth ; Vite, Charles H. ; Reunert, Janine ; Marquardt, Thorsten ; Giugliani, Roberto ; Lourenço, Charles M. ; Bodamer, Olaf ; Wang, Raymond Y. ; Plummer, Ellen ; Schaffer, Jean E. ; Ory, Daniel S. ; Jiang, Xuntian

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302 [Periódico revisado por pares]

United States: Elsevier Inc

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7
High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene
High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene
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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

The journal of clinical endocrinology and metabolism, 2010-03, Vol.95 (3), p.1318-1327 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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8
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation
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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

The journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E308-E318 [Periódico revisado por pares]

United States: Endocrine Society

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9
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
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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

European journal of endocrinology, 2018-12, Vol.179 (6), p.391-407 [Periódico revisado por pares]

England: Bioscientifica Ltd

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10
Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family
Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family
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Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family

Cintra, V. P. ; Lourenço, C. M. ; Rocha, M. M. V. ; Tomaselli, P. J. ; Marques, W.

Acta neurologica Scandinavica, 2017-11, Vol.136 (5), p.541-545 [Periódico revisado por pares]

Denmark: Hindawi Limited

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