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Material Type: Artigo
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Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34van Slegtenhorst, Marjon ; de Hoogt, Ronald ; Hermans, Caroline ; Nellist, Mark ; Janssen, Bart ; Verhoef, Senno ; Lindhout, Dick ; Van den Ouweland, Ans ; Halley, Dicky ; Young, Janet ; Burley, Mariwyn ; Jeremiah, Steve ; Woodward, Karen ; Nahmias, Joseph ; Fox, Margaret ; Ekong, Rosemary ; Osborne, John ; Wolfe, Jonathan ; Povey, Sue ; Snell, Russell G. ; Cheadle, Jeremy P. ; Jones, Alistair C. ; Tachataki, Maria ; Ravine, Dave ; Sampson, Julian R. ; Reeve, Mary Pat ; Richardson, Paul ; Wilmer, Frierderike ; Munro, Cheryl ; Hawkins, Trevor L. ; Sepp, Tiina ; Johari B. M. Ali ; Ward, Susannah ; Green, Andrew J. ; John R. W. Yates ; Kwiatkowska, Jolanta ; Elizabeth P. H enske ; Short, M. Priscilla ; Haines, Jonathan H. ; Jozwiak, Sergiusz ; Kwiatkowski, David J.Science (American Association for the Advancement of Science), 1997-08, Vol.277 (5327), p.805-808 [Periódico revisado por pares]Washington, DC: American Society for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Genetic Studies of a Cluster of Acute Lymphoblastic Leukemia Cases in Churchill County, NevadaSteinberg, Karen K. ; Relling, Mary V. ; Margaret L. Gallagher ; Christopher N. Greene ; Carol S. Rubin ; Deborah French ; Holmes, Adrianne K. ; William L. Carroll ; Deborah A. Koontz ; Sampson, Eric J. ; Satten, Glen A.Environmental health perspectives, 2007-01, Vol.115 (1), p.158-164 [Periódico revisado por pares]United States: National Institute of Environmental Health Sciences. National Institutes of Health. Department of Health, Education and WelfareTexto completo disponível |
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Material Type: Artigo
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Lack of association of colonic epithelium telomere length and oxidative DNA damage in Type 2 diabetes under good metabolic controlKejariwal, Deepak ; Stepien, Karolina M ; Smith, Tracy ; Kennedy, Hugh ; Hughes, David A ; Sampson, Mike JBMC endocrine disorders, 2008-10, Vol.8 (1), p.12-12, Article 12 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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A genome-wide association search for type 2 diabetes genes in African AmericansPalmer, Nicholette D ; Cooke, Jessica N ; Bostrom, Meredith A ; Ferrara, Assiamira ; Ziegler, Julie T ; Freedman, Barry I ; Scott, Laura J ; Morris, Andrew P ; Thorleifsson, Gudmar ; Ferreira, Teresa ; Dupuis, Josée ; Segrè, Ayellet V ; van Hoek, Mandy ; Bennett, Amanda J ; Boström, Kristina Bengtsson ; Couper, David J ; Elliott, Katherine S ; Elliott, Amanda L ; Erdos, Michael R ; Franklin, Christopher S ; Ganser, Martha ; Grarup, Niels ; Guiducci, Candace ; Kuusisto, Johanna ; Lauritzen, Torsten ; Lyssenko, Valeriya ; Payne, Felicity ; Prokopenko, Inga ; Robertson, Neil R ; Rocheleau, Ghislain ; Roden, Michael ; Saxena, Richa ; Sigurdsson, Gunnar ; Thorand, Barbara ; Tichet, Jean ; Weedon, Michael N ; Hunter, David J ; Hveem, Kristian ; Pramstaller, Peter P ; Sijbrands, Eric ; Walker, Mark ; Wareham, Nicholas J ; Hattersley, Andrew T ; Hu, Frank B ; Pedersen, Oluf ; Thorsteinsdottir, Unnur ; Wilson, James F ; van Duijn, Cornelia M ; Altshuler, David ; McCarthy, Mark I ; Elliott, Paul ; Dehghan, Abbas ; Lajunen, Taina ; Kanoni, Stavroula ; Zabena, Carina ; O'Connell, Jeffrey ; Luan, Jian'an ; Roccasecca, Rosa Maria ; Bochud, Murielle ; Clarke, Robert ; Coin, Lachlan J M ; Cooper, Matthew N ; Crisponi, Laura ; Frants, Rune ; Galan, Pilar ; Graessler, Jürgen ; Grundy, Scott ; Gwilliam, Rhian ; Hartikainen, Anna-Liisa ; Hercberg, Serge ; Hicks, Andrew A ; Hui, Jennie ; Kovacs, Peter ; Manning, Alisa K ; McAteer, Jarred B ; Melzer, David ; Meyre, David ; Naitza, Silvia ; Orrù, Marco ; Pattaro, Cristian ; Peden, John F ; Pichler, Irene ; Psaty, Bruce M ; Rayner, Nigel W ; van Dijk, Ko Willems ; Waeber, Gérard ; Yarnell, John W G ; Zethelius, Björn ; Loos, Ruth J F ; Smith, George Davey ; Karpe, Fredrik ; Serrano-Ríos, Manuel ; Ebrahim, Shah ; Pramstaller, Peter Paul ; Wright, Alan F ; Stumvoll, Michael ; Hamsten, Anders ; Buchanan, Thomas A ; Peltonen, Leena ; Mooser, Vincent Kronenberg, FlorianPloS one, 2012-01, Vol.7 (1), p.e29202-e29202 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individualsTimpson, Nicholas ; Yuan, Xin ; Manning, Alisa K ; Wareham, Nicholas J ; Langenberg, Claudia ; Tracy, Russell P ; Evans, David M ; Sattar, Naveed ; Carlson, Olga D ; Böhringer, Stefan ; Katsareli, Efi ; Allison, Matthew A ; Dedoussis, George V ; Hicks, Andrew A ; Kronenberg, Florian ; Meigs, James B ; McCulloch, Laura J ; Navarro, Pau ; Boerwinkle, Eric ; Bravenboer, Bert ; Gieger, Christian ; Griffin, Simon ; Jørgensen, Torben ; Kong, Augustine ; Lyssenko, Valeriya ; Robertson, Neil R ; Roden, Michael ; Sampson, Michael J ; Shrader, Peter ; Sigurdsson, Gunnar ; Sparsø, Thomas ; Sun, Qi ; Tichet, Jean ; Walters, G Bragi ; Witteman, Jacqueline ; Gloyn, Anna L ; Hide, Winston A ; Hofman, Albert ; Laakso, Markku ; Sijbrands, Eric ; Walker, Mark ; Sladek, Rob ; Illig, Thomas ; Froguel, Philippe ; Glazer, Nicole L ; Mägi, Reedik ; Rybin, Denis ; Doney, Alex ; Roccasecca, Rosa Maria ; Beilby, John P ; Borch-Johnsen, Knut ; Coin, Lachlan J M ; Crisponi, Laura ; Fischer-Rosinsky, Antje ; Galan, Pilar ; Gwilliam, Rhian ; Heath, Simon C ; Hercberg, Serge ; Hui, Jennie ; Kesaniemi, Y Antero ; Mukherjee, Sutapa ; Pakyz, Ruth ; Polasek, Ozren ; Province, Michael A ; Rolandsson, Olov ; Sanna, Serena ; Seedorf, Udo ; Sharp, Stephen J ; Varma, Dhiraj ; Zelenika, Diana ; Zhai, Guangju ; Shuldiner, Alan R ; Lind, Lars ; Kao, W H Linda ; Wright, Alan F ; Rotter, Jerome I ; Musunuru, Kiran ; Edmondson, Andrew C ; Chasman, Daniel I ; Ricketts, Sally L ; Li, Xiaohui ; Cho, Yoon Shin ; Lange, Leslie A ; Smith, Joshua D ; Thompson, John R ; Spector, Tim D ; Roberts, Robert ; Masson, David ; Lucas, Gavin ; Luben, Robert ; Lokki, Marja-Liisa ; Lettre, Guillaume ; König, Inke R ; Johansson, Åsa ; Quertermous, Thomas ; Kuzawa, Christopher W ; Gabriel, Stacey B ; Ordovas, Jose M ; Munroe, Patricia B ; Kooner, Jaspal S Visscher, Peter M.PLoS genetics, 2012-03, Vol.8 (3), p.e1002607 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Isoflavones, genistein and daidzein, regulate mucosal immune response by suppressing dendritic cell functionWei, John ; Bhatt, Shiven ; Chang, Lisa M ; Sampson, Hugh A ; Masilamani, Madhan Stumbles, Phillip A.PloS one, 2012-10, Vol.7 (10), p.e47979-e47979 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell linesSampson, Heidi M ; Lam, Hung ; Chen, Pei-Chun ; Zhang, Donglei ; Mottillo, Cristina ; Mirza, Myriam ; Qasim, Karim ; Shrier, Alvin ; Shyng, Show-Ling ; Hanrahan, John W ; Thomas, David YOrphanet journal of rare diseases, 2013-01, Vol.8 (1), p.11-11, Article 11 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Transcriptional adaptation of pneumococci and human pharyngeal cells in the presence of a virus infectionKimaro Mlacha, Sheila Z ; Peret, Teresa C T ; Kumar, Nikhil ; Romero-Steiner, Sandra ; Dunning Hotopp, Julie C ; Ishmael, Nadeeza ; Grinblat-Huse, Valerie ; Riley, David R ; Erdman, Dean D ; Carlone, George M ; Sampson, Jacquelyn ; Scott, J Anthony G ; Tettelin, HervéBMC genomics, 2013-06, Vol.14 (1), p.378-378, Article 378 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Phenotypic, genomic, and transcriptional characterization of Streptococcus pneumoniae interacting with human pharyngeal cellsKimaro Mlacha, Sheila Z ; Romero-Steiner, Sandra ; Hotopp, Julie C Dunning ; Kumar, Nikhil ; Ishmael, Nadeeza ; Riley, David R ; Farooq, Umar ; Creasy, Todd H ; Tallon, Luke J ; Liu, Xinyue ; Goldsmith, Cynthia S ; Sampson, Jacquelyn ; Carlone, George M ; Hollingshead, Susan K ; Scott, J Anthony G ; Tettelin, HervéBMC genomics, 2013-06, Vol.14 (1), p.383-383, Article 383 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophyFinkel, Richard S ; Flanigan, Kevin M ; Wong, Brenda ; Bönnemann, Carsten ; Sampson, Jacinda ; Sweeney, H Lee ; Reha, Allen ; Northcutt, Valerie J ; Elfring, Gary ; Barth, Jay ; Peltz, Stuart W Sawada, HideyukiPloS one, 2013-12, Vol.8 (12), p.e81302-e81302 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |