Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidismLourenço, Delmar M ; Coutinho, Flavia L ; Toledo, Rodrigo A ; Montenegro, Fabio LM ; Correia‐Deur, Joya EM ; Toledo, Sergio PAJournal of bone and mineral research, 2010-11, Vol.25 (11), p.2382-2391 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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2 |
Material Type: Artigo
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Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 PatientsRodrigues, 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, IncTexto completo disponível |
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3 |
Material Type: Artigo
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C diseaseSidhu, 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, XuntianMolecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the worldLourenço, Charles M ; Pessoa, Andre ; Mendes, Carmen C ; Rivera‐Nieto, Carolina ; Vergara, Diane ; Troncoso, Mónica ; Gardner, Emily ; Mallorens, Francisca ; Tavera, Lina ; Lizcano, Luis A ; Atanacio, Nora ; Guelbert, Norberto ; Specola, Norma ; Mancilla, Nury ; Souza, Carolina F M ; Mole, Sara EJournal of paediatrics and child health, 2021-04, Vol.57 (4), p.519-525 [Periódico revisado por pares]Australia: John Wiley & Sons Australia, LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian familyCintra, 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: Wiley Subscription Services, IncTexto completo disponível |
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6 |
Material Type: Artigo
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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibilityToledo, 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 AEndocrine-related cancer, 2015-02, Vol.22 (1), p.65-76 [Periódico revisado por pares]England: Bioscientifica LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Long-term weight loss after diet and exercise: a systematic reviewCURIONI, C. C ; LOURENCO, P. MInternational Journal of Obesity, 2005-10, Vol.29 (10), p.1168-1174 [Periódico revisado por pares]Basingstoke: Nature PublishingTexto completo disponível |
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8 |
Material Type: Artigo
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Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutationsLonguini, 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 AEuropean journal of endocrinology, 2014-09, Vol.171 (3), p.335-342 [Periódico revisado por pares]Bristol: Bioscientifica LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Haplotypes of TAFI gene and the risk of cerebral venous thrombosis - a case-control studyOrikaza, Cristina M ; Morelli, Vânia M ; Matos, Marinez F ; Lourenço, Dayse MThrombosis research, 2014-01, Vol.133 (1), p.120-124 [Periódico revisado por pares]United States: Elsevier LtdTexto completo disponível |
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10 |
Material Type: Artigo
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New novel mutations in Brazilian families with X‐linked Charcot‐Marie‐Tooth diseaseGouvea, Silmara P. ; Tomaselli, Pedro J. ; Barretto, Luiza S. ; Perina, Keity C. B. ; Nyshyama, Fulviana S. ; Nicolau, Nilson ; Lourenço, Charles M. ; Marques, WilsonJournal of the peripheral nervous system, 2019-06, Vol.24 (2), p.207-212 [Periódico revisado por pares]Malden, USA: Wiley Periodicals, IncTexto completo disponível |