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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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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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Material Type: Artigo
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Atenolol versus Losartan in Children and Young Adults with Marfan's SyndromeLacro, Ronald V ; Dietz, Harry C ; Sleeper, Lynn A ; Yetman, Anji T ; Bradley, Timothy J ; Colan, Steven D ; Pearson, Gail D ; Selamet Tierney, E. Seda ; Levine, Jami C ; Atz, Andrew M ; Benson, D. Woodrow ; Braverman, Alan C ; Chen, Shan ; De Backer, Julie ; Gelb, Bruce D ; Grossfeld, Paul D ; Klein, Gloria L ; Lai, Wyman W ; Liou, Aimee ; Loeys, Bart L ; Markham, Larry W ; Olson, Aaron K ; Paridon, Stephen M ; Pemberton, Victoria L ; Pierpont, Mary Ella ; Pyeritz, Reed E ; Radojewski, Elizabeth ; Roman, Mary J ; Sharkey, Angela M ; Stylianou, Mario P ; Wechsler, Stephanie Burns ; Young, Luciana T ; Mahony, LynnThe New England journal of medicine, 2014-11, Vol.371 (22), p.2061-2071 [Periódico revisado por pares]Waltham, MA: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Aneurysm Syndromes Caused by Mutations in the TGF-β ReceptorLoeys, Bart L ; Schwarze, Ulrike ; Holm, Tammy ; Callewaert, Bert L ; Thomas, George H ; Pannu, Hariyadarshi ; De Backer, Julie F ; Oswald, Gretchen L ; Symoens, Sofie ; Manouvrier, Sylvie ; Roberts, Amy E ; Faravelli, Francesca ; Greco, M. Alba ; Pyeritz, Reed E ; Milewicz, Dianna M ; Coucke, Paul J ; Cameron, Duke E ; Braverman, Alan C ; Byers, Peter H ; De Paepe, Anne M ; Dietz, Harry CThe New England journal of medicine, 2006-08, Vol.355 (8), p.788-798 [Periódico revisado por pares]Boston, MA: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Type-Selective Benefits of Medications in Treatment of Acute Aortic Dissection (from the International Registry of Acute Aortic Dissection [IRAD])Suzuki, Toru, MD ; Isselbacher, Eric M., MD ; Nienaber, Christoph A., MD ; Pyeritz, Reed E., MD ; Eagle, Kim A., MD ; Tsai, Thomas T., MD ; Cooper, Jeanna V., MS ; Januzzi, James L., MD ; Braverman, Alan C., MD ; Montgomery, Daniel G., BS ; Fattori, Rossella, MD ; Pape, Linda, MD ; Harris, Kevin M., MD ; Booher, Anna, MD ; Oh, Jae K., MD ; Peterson, Mark, MD ; Ramanath, Vijay S., MD ; Froehlich, James B., MDThe American journal of cardiology, 2012, Vol.109 (1), p.122-127 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Congenital Hypothyroidism Caused by Excess Prenatal Maternal Iodine IngestionConnelly, Kara J., MD ; Boston, Bruce A., MD ; Pearce, Elizabeth N., MD ; Sesser, David ; Snyder, David, MD ; Braverman, Lewis E., MD ; Pino, Sam ; LaFranchi, Stephen H., MDThe Journal of pediatrics, 2012-10, Vol.161 (4), p.760-762 [Periódico revisado por pares]Maryland Heights, MO: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Free T4 immunoassays are flawed during pregnancyLee, Richard H., MD ; Spencer, Carole A., PhD ; Mestman, Jorge H., MD ; Miller, Erin A., BS ; Petrovic, Ivana, MS ; Braverman, Lewis E., MD ; Goodwin, T. Murphy, MDAmerican journal of obstetrics and gynecology, 2009-03, Vol.200 (3), p.260.e1-260.e6 [Periódico revisado por pares]New York, NY: Mosby, IncTexto completo disponível |
8 |
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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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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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 |