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Material Type: Artigo
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Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J miceJohn, Simon W.M ; Anderson, Michael G ; Smith, Richard S ; Hawes, Norman L ; Zabaleta, Adriana ; Chang, Bo ; Wiggs, Janey LNature genetics, 2002-01, Vol.30 (1), p.81-85 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Systematic identification of human mitochondrial disease genes through integrative genomicsMootha, Vamsi K ; Calvo, Sarah ; Jain, Mohit ; Xie, Xiaohui ; Sheth, Sunil A ; Chang, Betty ; Goldberger, Olga A ; Spinazzola, Antonella ; Zeviani, Massimo ; Carr, Steven ANature genetics, 2006-05, Vol.38 (5), p.576-582 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Absence of perilipin results in leanness and reverses obesity in Lepr(db/db) miceMartinez-Botas, J ; Anderson, J B ; Tessier, D ; Lapillonne, A ; Chang, B H ; Quast, M J ; Gorenstein, D ; Chen, K H ; Chan, LNature genetics, 2000-12, Vol.26 (4), p.474-479 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12Isaacs, William B ; Grönberg, Henrik ; Zheng, Siqun Lilly ; Zhu, Yi ; Johansson, Jan-Erik ; Kim, Seong-Tae ; Sun, Jishan ; Partin, Alan W ; Wiley, Kathleen E ; Adami, Hans-Olov ; Gao, Zhengrong ; Trock, Bruce J ; Sun, Jielin ; Dimitrov, Latchezar ; Lowey, James ; Turner, Aubrey R ; Trent, Jeffrey M ; Xu, Jianfeng ; Adolfsson, Jan ; Liu, Wennuan ; Hsu, Fang-Chi ; Stattin, Pär ; Duggan, David ; Chang, Bao-Li ; Wiklund, Fredrik ; Li, Tao ; Isaacs, Sarah D ; Purcell, Lina D ; Walsh, Patrick C ; Carpten, John ; Adams, Tamara SNature genetics, 2008-10, Vol.40 (10), p.1153-1155 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Interacting loci cause severe iris atrophy and glaucoma in DBA/2J miceJohn, Simon W M ; Chang, Bo ; Smith, Richard S ; Hawes, Norman L ; Anderson, Michael G ; Zabaleta, Adriana ; Savinova, Olga ; Roderick, Thomas H ; Heckenlively, John R ; Davisson, Muriel TNature genetics, 1999-04, Vol.21 (4), p.405-409 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer riskIsaacs, William B ; Xu, Jianfeng ; Zheng, S. Lilly ; Komiya, Akira ; Mychaleckyj, Josyf C ; Isaacs, Sarah D ; Hu, Jennifer J ; Sterling, David ; Lange, Ethan M ; Hawkins, Gregory A ; Turner, Aubrey ; Ewing, Charles M ; Faith, Dennis A ; Johnson, Jill R ; Suzuki, Hiroyoshi ; Bujnovszky, Piroska ; Wiley, Kathleen E ; DeMarzo, Angelo M ; Bova, G. Steven ; Chang, Baoli ; Hall, M. Craig ; McCullough, David L ; Partin, Alan W ; Kassabian, Vahan S ; Carpten, John D ; Bailey-Wilson, Joan E ; Trent, Jeffrey M ; Ohar, Jill ; Bleecker, Eugene R ; Walsh, Patrick C ; Meyers, Deborah ANature genetics, 2002-10, Vol.32 (2), p.321-325 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTRLi, Canhui ; Ramjeesingh, Mohabir ; Reyes, Evangelica ; Jensen, Tim ; Chang, Xiubao ; Rommens, Johanna M ; Bear, Christine ENature genetics, 1993-04, Vol.3 (4), p.311-316 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk lociChang, Diana ; Nalls, Mike A ; Hallgrímsdóttir, Ingileif B ; Hunkapiller, Julie ; van der Brug, Marcel ; Cai, Fang ; Kerchner, Geoffrey A ; Ayalon, Gai ; Bingol, Baris ; Sheng, Morgan ; Hinds, David ; Behrens, Timothy W ; Singleton, Andrew B ; Bhangale, Tushar R ; Graham, Robert RNature genetics, 2017-10, Vol.49 (10), p.1511-1516 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanomaMoore, Amanda R ; Ceraudo, Emilie ; Sher, Jessica J ; Guan, Youxin ; Shoushtari, Alexander N ; Chang, Matthew T ; Zhang, Jenny Q ; Walczak, Edward G ; Kazmi, Manija A ; Taylor, Barry S ; Huber, Thomas ; Chi, Ping ; Sakmar, Thomas P ; Chen, YuNature genetics, 2016-06, Vol.48 (6), p.675-680 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Paired exome analysis of Barrett's esophagus and adenocarcinomaStachler, Matthew D ; Taylor-Weiner, Amaro ; Peng, Shouyong ; McKenna, Aaron ; Agoston, Agoston T ; Odze, Robert D ; Davison, Jon M ; Nason, Katie S ; Loda, Massimo ; Leshchiner, Ignaty ; Stewart, Chip ; Stojanov, Petar ; Seepo, Sara ; Lawrence, Michael S ; Ferrer-Torres, Daysha ; Lin, Jules ; Chang, Andrew C ; Gabriel, Stacey B ; Lander, Eric S ; Beer, David G ; Getz, Gad ; Carter, Scott L ; Bass, Adam JNature genetics, 2015-09, Vol.47 (9), p.1047-1055 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |