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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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmLINDSAY, Mark E ; SCHEPERS, Dorien ; BJEDA, Djahita ; OSWALD, Gretchen ; ELIAS, Abdallah F ; LEVY, Howard P ; ANDERLID, Britt-Marie ; YANG, Margaret H ; BONGERS, Ernie M. H. F ; TIMMERMANS, Janneke ; BRAVERMAN, Alan C ; CANHAM, Natalie ; BOLAR, Nikhita Ajit ; MORTIER, Geert R ; BRUNNER, Han G ; BYERS, Peter H ; VAN EYK, Jennifer ; VAN LAER, Lut ; DIETZ, Harry C ; LOEYS, Bart L ; DOYLE, Jefferson J ; GALLO, Elena ; FERT-BOBER, Justyna ; KEMPERS, Marlies J. E ; FISHMAN, Elliot K ; YICHUN CHEN ; MYERS, LorethaNature genetics, 2012-08, Vol.44 (8), p.922-927 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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The revised Ghent nosology for the Marfan syndromeLoeys, Bart L ; Dietz, Harry C ; Braverman, Alan C ; Callewaert, Bert L ; De Backer, Julie ; Devereux, Richard B ; Hilhorst-Hofstee, Yvonne ; Jondeau, Guillaume ; Faivre, Laurence ; Milewicz, Dianna M ; Pyeritz, Reed E ; Sponseller, Paul D ; Wordsworth, Paul ; De Paepe, Anne MJournal of medical genetics, 2010-07, Vol.47 (7), p.476-485 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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3 |
Material Type: Artigo
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndromeBOILEAU, Catherine ; GUO, Dong-Chuan ; BRAVERMAN, Alan C ; GRANDCHAMP, Bernard ; KWARTLER, Callie S ; GOUYA, Laurent ; SANTOS-CORTEZ, Regie Lyn P ; ABIFADEL, Marianne ; LEAL, Suzanne M ; MUTI, Christine ; SHENDURE, Jay ; GROSS, Marie-Sylvie ; HANNA, Nadine ; RIEDER, Mark J ; VAHANIAN, Alec ; NICKERSON, Deborah A ; MICHEL, Jean Baptiste ; JONDEAU, Guillaume ; MILEWICZ, Dianna M ; REGALADO, Ellen S ; DETAINT, Delphine ; LIMIN GONG ; VARRET, Mathilde ; PRAKASH, Siddharth K ; LI, Alexander H ; D'INDY, HyacinthaNature genetics, 2012-08, Vol.44 (8), p.916-921 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Sources of Dietary Iodine: Bread, Cows’ Milk, and Infant Formula in the Boston AreaPearce, Elizabeth N ; Pino, Sam ; He, Xuemei ; Bazrafshan, Hamid R ; Lee, Stephanie L ; Braverman, Lewis EThe journal of clinical endocrinology and metabolism, 2004-07, Vol.89 (7), p.3421-3424 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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5 |
Material Type: Artigo
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Maternal Perchlorate Levels in Women With Borderline Thyroid Function During Pregnancy and the Cognitive Development of Their Offspring: Data From the Controlled Antenatal Thyroid StudyTaylor, Peter N ; Okosieme, Onyebuchi E ; Murphy, Rhian ; Hales, Charlotte ; Chiusano, Elisabetta ; Maina, Aldo ; Joomun, Mohamed ; Bestwick, Jonathan P ; Smyth, Peter ; Paradice, Ruth ; Channon, Sue ; Braverman, Lewis E ; Dayan, Colin M ; Lazarus, John H ; Pearce, Elizabeth NThe journal of clinical endocrinology and metabolism, 2014-11, Vol.99 (11), p.4291-4298 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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6 |
Material Type: Artigo
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The Effect of Perchlorate, Thiocyanate, and Nitrate on Thyroid Function in Workers Exposed to Perchlorate Long-TermBraverman, Lewis E ; He, XueMei ; Pino, Sam ; Cross, Mary ; Magnani, Barbarajean ; Lamm, Steven H ; Kruse, Michael B ; Engel, Arnold ; Crump, Kenny S ; Gibbs, John PThe journal of clinical endocrinology and metabolism, 2005-02, Vol.90 (2), p.700-706 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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7 |
Material Type: Artigo
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A Comparison of Short-Term Changes in Health-Related Quality of Life in Thyroid Carcinoma Patients Undergoing Diagnostic Evaluation with Recombinant Human Thyrotropin Compared with Thyroid Hormone WithdrawalSchroeder, Pamela R ; Haugen, Bryan R ; Pacini, Furio ; Reiners, Christoph ; Schlumberger, Martin ; Sherman, Steven I ; Cooper, David S ; Schuff, Kathryn G ; Braverman, Lewis E ; Skarulis, Monica C ; Davies, Terry F ; Mazzaferri, Ernest L ; Daniels, Gilbert H ; Ross, Douglas S ; Luster, Markus ; Samuels, Mary H ; Weintraub, Bruce D ; Ridgway, E. Chester ; Ladenson, Paul WThe journal of clinical endocrinology and metabolism, 2006-03, Vol.91 (3), p.878-884 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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8 |
Material Type: Artigo
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Perchlorate and Thiocyanate Exposure and Thyroid Function in First-Trimester Pregnant WomenPearce, Elizabeth N ; Lazarus, John H ; Smyth, Peter P. A ; He, Xuemei ; Dall'Amico, Daniela ; Parkes, Arthur B ; Burns, Robert ; Smith, Derek F ; Maina, Aldo ; Bestwick, Jonathan P ; Jooman, Mohammed ; Leung, Angela M ; Braverman, Lewis EThe journal of clinical endocrinology and metabolism, 2010-07, Vol.95 (7), p.3207-3215 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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9 |
Material Type: Artigo
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A Protein Interaction Map of Drosophila melanogasterGiot, L. ; Bader, J. S. ; Brouwer, C. ; Chaudhuri, A. ; Kuang, B. ; Li, Y. ; Hao, Y. L. ; Ooi, C. E. ; Godwin, B. ; Vitols, E. ; Vijayadamodar, G. ; Pochart, P. ; Machineni, H. ; Welsh, M. ; Kong, Y. ; Zerhusen, B. ; Malcolm, R. ; Varrone, Z. ; Collis, A. ; Minto, M. ; Burgess, S. ; McDaniel, L. ; Stimpson, E. ; Spriggs, F. ; Williams, J. ; Neurath, K. ; Ioime, N. ; Agee, M. ; Voss, E. ; Furtak, K. ; Renzulli, R. ; Aanensen, N. ; Carrolla, S. ; Bickelhaupt, E. ; Lazovatsky, Y. ; DaSilva, A. ; Zhong, J. ; Stanyon, C. A. ; Finley, R. L. ; White, K. P. ; Braverman, M. ; Jarvie, T. ; Gold, S. ; Leach, M. ; Knight, J. ; Shimkets, R. A. ; McKenna, M. P. ; Chant, J. ; Rothberg, J. M.Science (American Association for the Advancement of Science), 2003-12, Vol.302 (5651), p.1727-1736 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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10 |
Material Type: Artigo
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Breast Milk Iodine and Perchlorate Concentrations in Lactating Boston-Area WomenPearce, Elizabeth N ; Leung, Angela M ; Blount, Benjamin C ; Bazrafshan, Hamid R ; He, Xuemei ; Pino, Sam ; Valentin-Blasini, Liza ; Braverman, Lewis EThe journal of clinical endocrinology and metabolism, 2007-05, Vol.92 (5), p.1673-1677 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |