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Material Type: Artigo
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DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophyWestin, Ida Maria ; Landfors, Mattias ; Giannopoulos, Antonios ; Viberg, Andreas ; Osterman, Pia ; Byström, Berit ; Degerman, Sofie ; Golovleva, IrinaCellular and molecular life sciences : CMLS, 2023, Vol.80 (3) [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery diseaseNikpay, Majid ; Goel, Anuj ; Won, Hong-Hee ; Hall, Leanne M ; Willenborg, Christina ; Kanoni, Stavroula ; Kyriakou, Theodosios ; Nelson, Christopher P ; Harris, Tamara B ; Hazen, Stanley L ; Hengstenberg, Christian ; Hofman, Albert ; Ingelsson, Erik ; Iribarren, Carlos ; Jukema, J Wouter ; Karhunen, Pekka J ; Kim, Bong-Jo ; Webb, Thomas R ; Kullo, Iftikhar J ; Loos, Ruth JF ; Melander, Olle ; Metspalu, Andres ; Palmer, Colin N ; Quertermous, Thomas ; Rader, Daniel J ; Zeng, Lingyao ; Ridker, Paul M ; Roberts, Robert ; Schwartz, Stephen M ; Stewart, Alexandre F ; Stott, David J ; Thiery, Joachim ; Dehghan, Abbas ; Zalloua, Pierre A ; O'Donnell, Christopher J ; Thompson, John R ; Erdmann, Jeanette ; Clarke, Robert ; Kathiresan, Sekar ; McPherson, Ruth ; Alver, Maris ; Deloukas, Panos ; Samani, Nilesh J ; Farrall, Martin ; Auro, Kirsi ; Bjonnes, Andrew ; Chasman, Daniel I ; Chen, Shufeng ; Ford, Ian ; Franceschini, Nora ; Gieger, Christian ; Grace, Christopher ; Gustafsson, Stefan ; Huang, Jie ; Kim, Yun Kyoung ; Lau, King Wai ; Lyytikäinen, Leo-Pekka ; Morrison, Alanna C ; Pervjakova, Natalia ; Rose, Lynda M ; Salfati, Elias ; Saxena, Richa ; Scholz, Markus ; Tikkanen, Emmi ; Uitterlinden, Andre ; Zhang, Weihua ; de Andrade, Mariza ; van Zuydam, Natalie R ; Dedoussis, George ; Frossard, Philippe ; Gauguier, Dominique ; Goodall, Alison H ; Gottesman, Omri ; Haber, Marc ; Huang, Jianfeng ; König, Inke R ; Lannfelt, Lars ; Lind, Lars ; Lindgren, Cecilia M ; Magnusson, Patrik K ; Mallick, Nadeem H ; Meitinger, Thomas ; Memon, Fazal-ur-Rehman ; Morris, Andrew P ; Nieminen, Markku S ; Rallidis, Loukianos S ; Rasheed, Asif ; Sinisalo, Juha ; Stirrups, Kathleen E ; Wang, Laiyuan ; Ardissino, Diego ; Boerwinkle, Eric ; Bottinger, Erwin P ; Buring, Julie E ; Chambers, John C ; Cupples, L Adrienne ; Danesh, John ; Demuth, Ilja ; Gudnason, Roberto ; Hamsten, AndersNature genetics, 2015-10, Vol.47 (10), p.1121-1130 [Periódico revisado por pares]New York: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controlsMercader, Josep M ; Udler, Miriam S ; Wessel, Jennifer ; Teslovich, Tanya M ; Caulkins, Lizz ; Barajas-Olmos, Francisco ; Boerwinkle, Eric ; Chen, Ling ; Contreras-Cubas, Cecilia ; Córdova, Emilio ; Correa, Adolfo ; DeFronzo, Ralph A ; Dolan, Lawrence ; Elliott, Amanda ; Floyd, James S ; Garay-Sevilla, Maria Eugenia ; García-Ortiz, Humberto ; Heard-Costa, Nancy L ; Jørgensen, Marit E ; Kang, Hyun Min ; Kelsey, Megan ; Linneberg, Allan ; Liu, Ching-Ti ; Liu, Jianjun ; Lyssenko, Valeriya ; Marcketta, Anthony ; Martínez-Hernández, Angélica ; Mayer-Davis, Elizabeth ; Morrison, Alanna C ; Ndungu, Anne ; Ng, Maggie C Y ; O'Dushlaine, Colm ; Post, Wendy S ; Vasan, Ramachandran S ; Rayner, N William ; Revilla-Monsalve, Cristina ; Santoro, Nicola ; Schurmann, Claudia ; Soberón, Xavier ; Strom, Tim M ; Thameem, Farook ; Torres, Jason M ; Vujkovic, Marijana ; Witte, Daniel R ; Atzmon, Gil ; Blangero, John ; Bonnycastle, Lori L ; Chan, Edmund ; Cheng, Ching-Yu ; Collins, Francis S ; de Vries, Paul S ; Glaser, Benjamin ; Gonzalez, Ma Elena ; Groop, Leif ; Kooner, Jaspal Singh ; Kwak, Soo Heon ; Laakso, Markku ; Nilsson, Peter ; Spector, Timothy D ; Tai, E Shyong ; Tuomilehto, Jaakko ; Wilson, James G ; Burke, Brian ; Carey, David J ; Frossard, Philippe ; Hwang, Mi Yeong ; Kim, Young Jin ; Kirchner, H Lester ; Lee, Jong-Young ; Lee, Juyoung ; Loos, Ruth J F ; Ma, Ronald C W ; Morris, Andrew D ; Palmer, Colin N A ; Pankow, James ; Rasheed, Asif ; Saleheen, Danish ; Sim, Xueling ; Small, Kerrin S ; Teo, Yik Ying ; Haiman, Christopher ; Hanis, Craig L ; Dewey, Frederick E ; Baras, Aris ; Gieger, Christian ; Meitinger, Thomas ; Lange, Leslie ; Pedersen, Oluf ; Zeitler, Philip ; Dabelea, Dana ; Abecasis, Goncalo ; Cox, Nancy J ; Sladek, Rob ; Meigs, James B ; Rotter, Jerome I ; Altshuler, David ; Burtt, Noël P ; Morris, Andrew P ; Florez, Jose C ; Boehnke, MichaelNature (London), 2019-06, Vol.570 (7759), p.71-76 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The Cancer Genome Atlas Pan-Cancer analysis projectWeinstein, John N ; Collisson, Eric A ; Mills, Gordon B ; Shaw, Kenna R Mills ; Ozenberger, Brad A ; Ellrott, Kyle ; Shmulevich, Ilya ; Sander, Chris ; Stuart, Joshua MNature genetics, 2013-10, Vol.45 (10), p.1113-1120 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Livro
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Keeping America Sane: Psychiatry and Eugenics in the United States and Canada, 1880–1940Dowbiggin, Ian RobertCornell University Press 2018Sem texto completo |
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Material Type: Artigo
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A Consensus Molecular Classification of Muscle-invasive Bladder CancerKamoun, Aurélie ; de Reyniès, Aurélien ; Allory, Yves ; Sjödahl, Gottfrid ; Robertson, A. Gordon ; Seiler, Roland ; Hoadley, Katherine A. ; Groeneveld, Clarice S. ; Al-Ahmadie, Hikmat ; Choi, Woonyoung ; Castro, Mauro A.A. ; Fontugne, Jacqueline ; Eriksson, Pontus ; Mo, Qianxing ; Kardos, Jordan ; Zlotta, Alexandre ; Hartmann, Arndt ; Dinney, Colin P. ; Bellmunt, Joaquim ; Powles, Thomas ; Malats, Núria ; Chan, Keith S. ; Kim, William Y. ; McConkey, David J. ; Black, Peter C. ; Dyrskjøt, Lars ; Höglund, Mattias ; Lerner, Seth P. ; Real, Francisco X. ; Radvanyi, François ; Aine, Mattias ; Al-Ahmadie, Hikmat ; Allory, Yves ; Bellmunt, Joaquim ; Bernard-Pierrot, Isabelle ; Black, Peter C. ; Castro, Mauro A.A. ; Chan, Keith S. ; Choi, Woonyoung ; Czerniak, Bogdan ; Dinney, Colin P. ; Dyrskjøt, Lars ; Eriksson, Pontus ; Fontugne, Jacqueline ; Gibb, Ewan A. ; Groeneveld, Clarice S. ; Hartmann, Arndt ; Hoadley, Katherine A. ; Höglund, Mattias ; Kamoun, Aurélie ; Kardos, Jordan ; Kim, Jaegil ; Kim, William Y. ; Kwiatkowski, David J. ; Lebret, Thierry ; Lerner, Seth P. ; Liedberg, Fredrik ; Malats, Núria ; McConkey, David J. ; Mo, Qianxing ; Powles, Thomas ; Radvanyi, François ; Real, Francisco X. ; de Reyniès, Aurélien ; Robertson, A. Gordon ; Siefker-Radtke, Arlene ; Sirab, Nanor ; Seiler, Roland ; Sjödahl, Gottfrid ; Taber, Ann ; Weinstein, John ; Zlotta, AlexandreEuropean urology, 2020-04, Vol.77 (4), p.420-433 [Periódico revisado por pares]Switzerland: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A reference panel of 64,976 haplotypes for genotype imputationDas, Sayantan ; Delaneau, Olivier ; Wood, Andrew R ; Teumer, Alexander ; Kang, Hyun Min ; Danecek, Petr ; Luo, Yang ; Sidore, Carlo ; Kwong, Alan ; Timpson, Nicholas ; Koskinen, Seppo ; Vrieze, Scott ; Scott, Laura J ; Zhang, He ; Mahajan, Anubha ; Veldink, Jan ; Peters, Ulrike ; Pato, Carlos ; van Duijn, Cornelia M ; Gillies, Christopher E ; Gandin, Ilaria ; Mezzavilla, Massimo ; Gilly, Arthur ; Cocca, Massimiliano ; Traglia, Michela ; Angius, Andrea ; Barrett, Jeffrey C ; Boomsma, Dorrett ; Branham, Kari ; Breen, Gerome ; Brummett, Chad M ; Busonero, Fabio ; Campbell, Harry ; Chen, Sai ; Chew, Emily ; Collins, Francis S ; Corbin, Laura J ; Smith, George Davey ; Dedoussis, George ; Dorr, Marcus ; Farmaki, Aliki-Eleni ; Ferrucci, Luigi ; Forer, Lukas ; Fraser, Ross M ; Gabriel, Stacey ; Levy, Shawn ; Groop, Leif ; Harrison, Tabitha ; Hattersley, Andrew ; Holmen, Oddgeir L ; Hveem, Kristian ; Kretzler, Matthias ; Lee, James C ; McGue, Matt ; Meitinger, Thomas ; Vincent, John B ; Nauck, Matthias ; Nickerson, Deborah ; Palotie, Aarno ; Pato, Michele ; Pirastu, Nicola ; McInnis, Melvin ; Richards, J Brent ; Sala, Cinzia ; Salomaa, Veikko ; Schlessinger, David ; Schoenherr, Sebastian ; Slagboom, P Eline ; Small, Kerrin ; Spector, Timothy ; Tuke, Marcus ; Tuomilehto, Jaakko ; Van den Berg, Leonard H ; Van Rheenen, Wouter ; Volker, Uwe ; Wijmenga, Cisca ; Toniolo, Daniela ; Zeggini, Eleftheria ; Gasparini, Paolo ; Sampson, Matthew G ; Wilson, James F ; Frayling, Timothy ; de Bakker, Paul I W ; Swertz, Morris A ; McCarroll, Steven ; Kooperberg, Charles ; Dekker, Annelot ; Altshuler, David ; Willer, Cristen ; Iacono, William ; Ripatti, Samuli ; Soranzo, Nicole ; Walter, Klaudia ; Swaroop, Anand ; Cucca, Francesco ; Anderson, Carl A ; Myers, Richard M ; Boehnke, Michael ; McCarthy, Mark I ; Durbin, RichardNature genetics, 2016-10, Vol.48 (10), p.1279-1283 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Livro
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Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and CounselingLiehr, ThomasSan Diego: Elsevier Science 2013Texto completo disponível |
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Material Type: Artigo
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Epigenetics in Human Obesity and Type 2 DiabetesLing, Charlotte ; Rönn, TinaCell metabolism, 2019-05, Vol.29 (5), p.1028-1044 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |