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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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaCortese, Andrea ; Simone, Roberto ; Sullivan, Roisin ; Vandrovcova, Jana ; Tariq, Huma ; Yau, Wai Yan ; Humphrey, Jack ; Jaunmuktane, Zane ; Sivakumar, Prasanth ; Polke, James ; Ilyas, Muhammad ; Tribollet, Eloise ; Tomaselli, Pedro J ; Devigili, Grazia ; Callegari, Ilaria ; Versino, Maurizio ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Kaski, Diego ; Wood, Nick W ; Andrade, Nadja S ; Buglo, Elena ; Rebelo, Adriana ; Rossor, Alexander M ; Bronstein, Adolfo ; Fratta, Pietro ; Marques, Wilson J ; Züchner, Stephan ; Reilly, Mary M ; Houlden, HenryNature genetics, 2019-04, Vol.51 (4), p.649-658 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associationsSakornsakolpat, Phuwanat ; Prokopenko, Dmitry ; Lamontagne, Maxime ; Reeve, Nicola F ; Guyatt, Anna L ; Jackson, Victoria E ; Shrine, Nick ; Qiao, Dandi ; Bartz, Traci M ; Kim, Deog Kyeom ; Lee, Mi Kyeong ; Latourelle, Jeanne C ; Li, Xingnan ; Morrow, Jarrett D ; Obeidat, Ma'en ; Wyss, Annah B ; Bakke, Per ; Barr, R Graham ; Beaty, Terri H ; Belinsky, Steven A ; Brusselle, Guy G ; Crapo, James D ; de Jong, Kim ; DeMeo, Dawn L ; Fingerlin, Tasha E ; Gharib, Sina A ; Gulsvik, Amund ; Hall, Ian P ; Hokanson, John E ; Kim, Woo Jin ; Lomas, David A ; London, Stephanie J ; Meyers, Deborah A ; O'Connor, George T ; Rennard, Stephen I ; Schwartz, David A ; Sliwinski, Pawel ; Sparrow, David ; Strachan, David P ; Tal-Singer, Ruth ; Tesfaigzi, Yohannes ; Vestbo, Jørgen ; Vonk, Judith M ; Yim, Jae-Joon ; Zhou, Xiaobo ; Bossé, Yohan ; Manichaikul, Ani ; Lahousse, Lies ; Silverman, Edwin K ; Boezen, H Marike ; Wain, Louise V ; Tobin, Martin D ; Hobbs, Brian D ; Cho, Michael HNature genetics, 2019-03, Vol.51 (3), p.494-505 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular riskWarren, Helen R ; Evangelou, Evangelos ; Cabrera, Claudia P ; Gao, He ; Ren, Meixia ; Mifsud, Borbala ; Ntalla, Ioanna ; Surendran, Praveen ; Liu, Chunyu ; Cook, James P ; Kraja, Aldi T ; Drenos, Fotios ; Loh, Marie ; Verweij, Niek ; Marten, Jonathan ; Karaman, Ibrahim ; Lepe, Marcelo P Segura ; O'Reilly, Paul F ; Knight, Joanne ; Snieder, Harold ; Kato, Norihiro ; He, Jiang ; Tai, E Shyong ; Said, M Abdullah ; Porteous, David ; Alver, Maris ; Poulter, Neil ; Farrall, Martin ; Gansevoort, Ron T ; Padmanabhan, Sandosh ; Mägi, Reedik ; Stanton, Alice ; Connell, John ; Bakker, Stephan J L ; Metspalu, Andres ; Shields, Denis C ; Thom, Simon ; Brown, Morris ; Sever, Peter ; Esko, Tõnu ; Hayward, Caroline ; van der Harst, Pim ; Saleheen, Danish ; Chowdhury, Rajiv ; Chambers, John C ; Chasman, Daniel I ; Chakravarti, Aravinda ; Newton-Cheh, Christopher ; Lindgren, Cecilia M ; Levy, Daniel ; Kooner, Jaspal S ; Keavney, Bernard ; Tomaszewski, Maciej ; Samani, Nilesh J ; Howson, Joanna M M ; Tobin, Martin D ; Munroe, Patricia B ; Ehret, Georg B ; Wain, Louise VNature genetics, 2017-03, Vol.49 (3), p.403-415 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targetsWain, Louise V ; Shrine, Nick ; Artigas, María Soler ; Erzurumluoglu, A Mesut ; Noyvert, Boris ; Bossini-Castillo, Lara ; Obeidat, Ma'en ; Henry, Amanda P ; Portelli, Michael A ; Hall, Robert J ; Billington, Charlotte K ; Rimington, Tracy L ; Fenech, Anthony G ; John, Catherine ; Blake, Tineka ; Jackson, Victoria E ; Allen, Richard J ; Prins, Bram P ; Campbell, Archie ; Porteous, David J ; Jarvelin, Marjo-Riitta ; Wielscher, Matthias ; James, Alan L ; Hui, Jennie ; Wareham, Nicholas J ; Zhao, Jing Hua ; Wilson, James F ; Joshi, Peter K ; Stubbe, Beate ; Rawal, Rajesh ; Schulz, Holger ; Imboden, Medea ; Probst-Hensch, Nicole M ; Gieger, Christian ; Harris, Sarah E ; Marten, Jonathan ; Rudan, Igor ; Enroth, Stefan ; Gyllensten, Ulf ; Polasek, Ozren ; Surakka, Ida ; Hayward, Caroline ; Lehtimäki, Terho ; Raitakari, Olli T ; Evans, David M ; Henderson, A John ; Pennell, Craig E ; Wang, Carol A ; Sly, Peter D ; Wan, Emily S ; Busch, Robert ; Hobbs, Brian D ; Litonjua, Augusto A ; Sparrow, David W ; Gulsvik, Amund ; Bakke, Per S ; Crapo, James D ; Beaty, Terri H ; Hansel, Nadia N ; Mathias, Rasika A ; Ruczinski, Ingo ; Barnes, Kathleen C ; Bossé, Yohan ; van den Berge, Maarten ; Brandsma, Corry-Anke ; Paré, Peter D ; Sin, Don D ; Nickle, David C ; Hao, Ke ; Gottesman, Omri ; Dewey, Frederick E ; Bruse, Shannon E ; Carey, David J ; Kirchner, H Lester ; Jonsson, Stefan ; Thorleifsson, Gudmar ; Jonsdottir, Ingileif ; Gislason, Thorarinn ; Stefansson, Kari ; Schurmann, Claudia ; Nadkarni, Girish ; Bottinger, Erwin P ; Loos, Ruth J F ; Walters, Robin G ; Chen, Zhengming ; Millwood, Iona Y ; Vaucher, Julien ; Kurmi, Om P ; Li, Liming ; Hansell, Anna L ; Brightling, Chris ; Zeggini, Eleftheria ; Cho, Michael H ; Silverman, Edwin K ; Sayers, Ian ; Trynka, Gosia ; Morris, Andrew P ; Strachan, David P ; Hall, Ian P ; Tobin, Martin DNature genetics, 2017-03, Vol.49 (3), p.416-425 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancerAminkeng, Folefac ; Bhavsar, Amit P ; Visscher, Henk ; Rassekh, Shahrad R ; Li, Yuling ; Lee, Jong W ; Brunham, Liam R ; Caron, Huib N ; van Dalen, Elvira C ; Kremer, Leontien C ; van der Pal, Helena J ; Amstutz, Ursula ; Rieder, Michael J ; Bernstein, Daniel ; Carleton, Bruce C ; Hayden, Michael R ; Ross, Colin J DNature genetics, 2015-09, Vol.47 (9), p.1079-1084 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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6 |
Material Type: Artigo
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Bayesian refinement of association signals for 14 loci in 3 common diseasesMaller, Julian B ; McVean, Gilean ; Byrnes, Jake ; Vukcevic, Damjan ; Palin, Kimmo ; Su, Zhan ; Howson, Joanna M M ; Auton, Adam ; Myers, Simon ; Morris, Andrew ; Pirinen, Matti ; Brown, Matthew A ; Burton, Paul R ; Caulfield, Mark J ; Compston, Alastair ; Farrall, Martin ; Hall, Alistair S ; Hattersley, Andrew T ; Hill, Adrian V S ; Mathew, Christopher G ; Pembrey, Marcus ; Satsangi, Jack ; Stratton, Michael R ; Worthington, Jane ; Craddock, Nick ; Hurles, Matthew ; Ouwehand, Willem ; Parkes, Miles ; Rahman, Nazneen ; Duncanson, Audrey ; Todd, John A ; Kwiatkowski, Dominic P ; Samani, Nilesh J ; Gough, Stephen C L ; McCarthy, Mark I ; Deloukas, Panagiotis ; Donnelly, PeterNature genetics, 2012-12, Vol.44 (12), p.1294-1301 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaCortese, Andrea ; Simone, Roberto ; Sullivan, Roisin ; Vandrovcova, Jana ; Tariq, Huma ; Yau, Wai Yan ; Humphrey, Jack ; Jaunmuktane, Zane ; Sivakumar, Prasanth ; Polke, James ; Ilyas, Muhammad ; Tribollet, Eloise ; Tomaselli, Pedro J ; Devigili, Grazia ; Callegari, Ilaria ; Versino, Maurizio ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Kaski, Diego ; Wood, Nick W ; Andrade, Nadja S ; Buglo, Elena ; Rebelo, Adriana ; Rossor, Alexander M ; Bronstein, Adolfo ; Fratta, Pietro ; Marques, Wilson J ; Züchner, Stephan ; Reilly, Mary M ; Houlden, HenryNature genetics, 2019-05, Vol.51 (5), p.920-920 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohortsAULCHENKO, Yurii S ; RIPATTI, Samuli ; MARTIN, Nicholas G ; PEDERSEN, Nancy L ; OHM KYVIK, Kirsten ; KAPRIO, Jaakko ; HOFMAN, Albert ; PREMIER, Nelson B ; JARVELIN, Marjo-Riitta ; GYLLENSTEN, Ulf ; CAMPBELL, Harry ; RUDAN, Igor ; LINDQVIST, Ida ; JOHANSSON, Asa ; MARRONI, Fabio ; HAYWARD, Caroline ; VITART, Veronique ; JONASSON, Inger ; PATTARO, Cristian ; WRIGHT, Alan ; HASTIE, Nick ; PICHLER, Irene ; HICKS, Andrew A ; BOOMSMA, Dorret ; FALCHI, Mario ; WILLEMSEN, Gonneke ; HOTTENGA, Jouke-Jan ; DE GEUS, Eco J. C ; MONTGOMERY, Grant W ; WHITFIELD, John ; MAGNUSSON, Patrik ; SAHARINEN, Juha ; PEROLA, Markus ; SILANDER, Kaisa ; HEID, Iris M ; ISAACS, Aaron ; SIJBRANDS, Eric J. G ; UITTERLINDEN, Andre G ; WITTEMAN, Jacqueline C. M ; OOSTRA, Ben A ; ELLIOTT, Paul ; RUOKONEN, Aimo ; SABATTI, Chiara ; GIEGER, Christian ; MEITINGER, Thomas ; PRAMSTALLER, Peter P ; KRONENBERG, Florian ; DÖRING, Angela ; WICHMANN, H-Erich ; SMIT, Johannes H ; MCCARTHY, Mark I ; VAN DUIJN, Cornelia M ; PELTONEN, Leena ; PENNINX, Brenda W. J. H ; JANSSENS, A. Cecile J. W ; WILSON, James F ; SPECTOR, TimNature genetics, 2009-01, Vol.41 (1), p.47-55 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Leveraging population admixture to characterize the heritability of complex traitsZaitlen, Noah ; Pasaniuc, Bogdan ; Sankararaman, Sriram ; Bhatia, Gaurav ; Zhang, Jianqi ; Gusev, Alexander ; Young, Taylor ; Tandon, Arti ; Pollack, Samuela ; Vilhjálmsson, Bjarni J ; Assimes, Themistocles L ; Berndt, Sonja I ; Blot, William J ; Chanock, Stephen ; Franceschini, Nora ; Goodman, Phyllis G ; He, Jing ; Hennis, Anselm J M ; Hsing, Ann ; Ingles, Sue A ; Isaacs, William ; Kittles, Rick A ; Klein, Eric A ; Lange, Leslie A ; Nemesure, Barbara ; Patterson, Nick ; Reich, David ; Rybicki, Benjamin A ; Stanford, Janet L ; Stevens, Victoria L ; Strom, Sara S ; Whitsel, Eric A ; Witte, John S ; Xu, Jianfeng ; Haiman, Christopher ; Wilson, James G ; Kooperberg, Charles ; Stram, Daniel ; Reiner, Alex P ; Tang, Hua ; Price, Alkes LNature genetics, 2014-12, Vol.46 (12), p.1356-1362 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestriesShrine, Nick ; Guyatt, Anna L ; Erzurumluoglu, A Mesut ; Jackson, Victoria E ; Melbourne, Carl A ; Batini, Chiara ; Fawcett, Katherine A ; Song, Kijoung ; Sakornsakolpat, Phuwanat ; Li, Xingnan ; Boxall, Ruth ; Reeve, Nicola F ; Obeidat, Ma'en ; Zhao, Jing Hua ; Wielscher, Matthias ; Weiss, Stefan ; Kentistou, Katherine A ; Cook, James P ; Sun, Benjamin B ; Zhou, Jian ; Hui, Jennie ; Karrasch, Stefan ; Imboden, Medea ; Harris, Sarah E ; Marten, Jonathan ; Enroth, Stefan ; Kerr, Shona M ; Surakka, Ida ; Vitart, Veronique ; Lehtimäki, Terho ; Allen, Richard J ; Bakke, Per S ; Beaty, Terri H ; Bleecker, Eugene R ; Bossé, Yohan ; Brandsma, Corry-Anke ; Chen, Zhengming ; Crapo, James D ; Danesh, John ; DeMeo, Dawn L ; Dudbridge, Frank ; Gieger, Christian ; Gulsvik, Amund ; Hansell, Anna L ; Hao, Ke ; Hoffman, Joshua D ; Hokanson, John E ; Homuth, Georg ; Joshi, Peter K ; Joubert, Philippe ; Langenberg, Claudia ; Li, Xuan ; Li, Liming ; Lin, Kuang ; Lind, Lars ; Locantore, Nicholas ; Murray, Alison ; Nickle, David C ; Packer, Richard ; Parker, Margaret M ; Paynton, Megan L ; Porteous, David J ; Prokopenko, Dmitry ; Qiao, Dandi ; Rawal, Rajesh ; Runz, Heiko ; Sayers, Ian ; Sin, Don D ; Smith, Blair H ; Artigas, María Soler ; Sparrow, David ; Tal-Singer, Ruth ; Timmers, Paul R H J ; Van den Berge, Maarten ; Whittaker, John C ; Woodruff, Prescott G ; Troyanskaya, Olga G ; Kähönen, Mika ; Polašek, Ozren ; Gyllensten, Ulf ; Rudan, Igor ; Deary, Ian J ; Probst-Hensch, Nicole M ; James, Alan L ; Wilson, James F ; Stubbe, Beate ; Zeggini, Eleftheria ; Jarvelin, Marjo-Riitta ; Silverman, Edwin K ; Hayward, Caroline ; Morris, Andrew P ; Butterworth, Adam S ; Scott, Robert A ; Walters, Robin G ; Meyers, Deborah A ; Cho, Michael H ; Strachan, David P ; Hall, Ian P ; Tobin, Martin D ; Wain, Louise VNature genetics, 2019-06, Vol.51 (6), p.1067-1067 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |