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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individualsSurendran, Praveen ; Feofanova, Elena V ; Lahrouchi, Najim ; Mifsud, Borbala ; Kraja, Aldi T ; Hellwege, Jacklyn N ; Thorleifsson, Gudmar ; Liu, Dajiang J ; Cabrera, Claudia P ; Bielak, Lawrence F ; Bis, Joshua C ; Nielsen, Sune Fallgaard ; Fauman, Eric B ; Fava, Cristiano ; Ferreira, Teresa ; Foley, Christopher N ; Franceschini, Nora ; Giannakopoulou, Olga ; Gudbjartsson, Daniel F ; Guo, Xiuqing ; Harris, Sarah E ; Kontto, Jukka ; Larson, Martin G ; Li-Gao, Ruifang ; Malerba, Giovanni ; Mei, Hao ; Mook-Kanamori, Dennis O ; Müller-Nurasyid, Martina ; Rauramaa, Rainer ; Smith, Albert V ; Thériault, Sébastien ; Trompet, Stella ; Veronesi, Giovanni ; Weiss, Stefan ; Willems, Sara M ; Zhang, Weihua ; Zhao, Wei ; Zhao, Wei ; Evangelou, Evangelos ; Bonnycastle, Lori L ; Burgess, Stephen ; Connell, John ; Farmaki, Aliki-Eleni ; Grarup, Niels ; Hallmans, Göran ; Have, Christian T ; Karpe, Fredrik ; Koistinen, Heikki A ; Lee, I-Te ; Lee, Wen-Jane ; Linneberg, Allan ; Rasheed, Asif ; Rasmussen, Katrine L ; Renström, Frida ; Rettig, Rainer ; Rossouw, Jacques ; Schreiner, Pamela J ; Sever, Peter S ; Sun, Yan V ; Esko, Tõnu ; Vergnaud, Anne-Claire ; Wilson, Peter W F ; Witte, Daniel R ; Almgren, Peter ; Barnes, Michael R ; Bottinger, Erwin P ; Chowdhury, Rajiv ; Correa, Adolfo ; Dedoussis, George ; Di Angelantonio, Emanuele ; Ferrières, Jean ; Fornage, Myriam ; Franks, Stephen ; Frossard, Philippe ; Gaunt, Tom R ; Ingelsson, Erik ; Lind, Lars ; Loos, Ruth J F ; Majumder, Abdulla Al Shafi ; Packard, Chris J ; Palmas, Walter ; Prentice, Andrew M ; Relton, Caroline L ; Rolandsson, Olov ; Smith, Blair H ; Soranzo, Nicole ; Spector, Timothy D ; Taylor, Kent D ; Timpson, Nicholas J ; Völker, Uwe ; Wareham, Nicholas J ; Langenberg, Claudia ; Tomaszewski, Maciej ; Caulfield, Mark J ; Hung, Adriana M ; Morris, Andrew P ; Morrison, Alanna C ; Psaty, Bruce M ; Levy, Daniel ; Munroe, Patricia BNature genetics, 2020-12, Vol.52 (12), p.1314-1332 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Runx1 is a central regulator of osteogenesis for bone homeostasis by orchestrating BMP and WNT signaling pathwaysTang, Chen-Yi ; Wu, Mengrui ; Zhao, Dongfeng ; Edwards, Diep ; McVicar, Abigail ; Luo, Yuan ; Zhu, Guochun ; Wang, Yongjun ; Zhou, Hou-De ; Chen, Wei ; Li, Yi-Ping LONG, FANXINPLoS genetics, 2021-01, Vol.17 (1), p.e1009233-e1009233 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Interplay of somatic alterations and immune infiltration modulates response to PD-1 blockade in advanced clear cell renal cell carcinomaBraun, David A ; Hou, Yue ; Bakouny, Ziad ; Ficial, Miriam ; Sant' Angelo, Miriam ; Forman, Juliet ; Ross-Macdonald, Petra ; Berger, Ashton C ; Jegede, Opeyemi A ; Elagina, Liudmilla ; Steinharter, John ; Sun, Maxine ; Wind-Rotolo, Megan ; Pignon, Jean-Christophe ; Cherniack, Andrew D ; Lichtenstein, Lee ; Neuberg, Donna ; Catalano, Paul ; Freeman, Gordon J ; Sharpe, Arlene H ; McDermott, David F ; Van Allen, Eliezer M ; Signoretti, Sabina ; Wu, Catherine J ; Shukla, Sachet A ; Choueiri, Toni KNature medicine, 2020-06, Vol.26 (6), p.909-918 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaChassaing, N. ; Causse, A. ; Vigouroux, A. ; Delahaye, A. ; Alessandri, J.-L. ; Boespflug-Tanguy, O. ; Boute-Benejean, O. ; Dollfus, H. ; Duban-Bedu, B. ; Gilbert-Dussardier, B. ; Giuliano, F. ; Gonzales, M. ; Holder-Espinasse, M. ; Isidor, B. ; Jacquemont, M.-L. ; Lacombe, D. ; Martin-Coignard, D. ; Mathieu-Dramard, M. ; Odent, S. ; Picone, O. ; Pinson, L. ; Quelin, C. ; Sigaudy, S. ; Toutain, A. ; Thauvin-Robinet, C. ; Kaplan, Josseline ; Calvas, PatrickClinical genetics, 2014-10, Vol.86 (4), p.326-334 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous ThromboembolismHelgadottir, Anna, MD, PhD ; Gretarsdottir, Solveig, PhD ; Thorleifsson, Gudmar, PhD ; Holm, Hilma, MD ; Patel, Riyaz S., MD ; Gudnason, Thorarinn, MD, PhD ; Jones, Gregory T., PhD ; van Rij, Andre M., MD ; Eapen, Danny J., MD ; Baas, Annette F., PhD ; Tregouet, David-Alexandre, PhD ; Morange, Pierre-Emmanuel, MD ; Emmerich, Joseph, MD, PhD ; Lindblad, Bengt, MD, PhD ; Gottsäter, Anders, MD, PhD ; Kiemeny, Lambertus A., PhD ; Lindholt, Jes S., MD, PhD ; Sakalihasan, Natzi, MD, PhD ; Ferrell, Robert E., PhD ; Carey, David J., PhD ; Elmore, James R., MD ; Tsao, Philip S., PhD ; Grarup, Niels, MD, PhD ; Jørgensen, Torben, MD, DMSci ; Witte, Daniel R., MD, PhD ; Hansen, Torben, MD, PhD ; Pedersen, Oluf, MD, DMSci ; Pola, Roberto, MD, PhD ; Gaetani, Eleonora, MD ; Magnadottir, Hulda B., MD ; Wijmenga, Cisca, PhD ; Tromp, Gerard, PhD ; Ronkainen, Antti, MD, PhD ; Ruigrok, Ynte M., MD ; Blankensteijn, Jan D ; Mueller, Thomas, MD ; Wells, Philip S., MD ; Corral, Javier, PhD ; Soria, Jose Manuel, PhD ; Souto, Juan Carlos, MD, PhD ; Peden, John F., PhD ; Jalilzadeh, Shapour, MD, PhD ; Mayosi, Bongani M., DPhil ; Keavney, Bernard, MD ; Strawbridge, Rona J., PhD ; Sabater-Lleal, Maria, PhD ; Gertow, Karl, PhD ; Baldassarre, Damiano, PhD ; Nyyssönen, Kristiina, PhD ; Rauramaa, Rainer, MD, PhD ; Smit, Andries J., MD, PhD ; Mannarino, Elmo, MD ; Giral, Philippe, MD ; Tremoli, Elena, PhD ; de Faire, Ulf, MD, PhD ; Humphries, Steve E., PhD ; Hamsten, Anders, MD, PhD ; Haraldsdottir, Vilhelmina, MD ; Olafsson, Isleifur, MD, PhD ; Magnusson, Magnus K., MD ; Samani, Nilesh J., MD ; Levey, Allan I., MD, PhD ; Markus, Hugh S., MD ; Kostulas, Konstantinos, MD, PhD ; Dichgans, Martin, MD ; Berger, Klaus, MD ; Kuhlenbäumer, Gregor, MD ; Ringelstein, E. Bernd, MD ; Stoll, Monika, PhD ; Seedorf, Udo, PhD ; Rothwell, Peter M., MD, PhD ; Powell, Janet T., MD ; Kuivaniemi, Helena, MD, PhD ; Onundarson, Pall T., MD ; Valdimarsson, Einar, MD ; Matthiasson, Stefan E., MD, PhD ; Gudbjartsson, Daniel F., PhD ; Thorgeirsson, Guðmundur, MD, PhD ; Quyyumi, Arshed A., MD ; Watkins, Hugh, MD, PhD ; Farrall, Martin, MD ; Thorsteinsdottir, Unnur, PhD ; Stefansson, Kari, MD, PhDJournal of the American College of Cardiology, 2012-08, Vol.60 (8), p.722-729 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell CarcinomaZhang, Ling ; Zhou, Yong ; Cheng, Caixia ; Cui, Heyang ; Cheng, Le ; Kong, Pengzhou ; Wang, Jiaqian ; Li, Yin ; Chen, Wenliang ; Song, Bin ; Wang, Fang ; Jia, Zhiwu ; Li, Lin ; Li, Yaoping ; Yang, Bin ; Liu, Jing ; Shi, Ruyi ; Bi, Yanghui ; Zhang, Yanyan ; Wang, Juan ; Zhao, Zhenxiang ; Hu, Xiaoling ; Yang, Jie ; Li, Hongyi ; Gao, Zhibo ; Chen, Gang ; Huang, Xuanlin ; Yang, Xukui ; Wan, Shengqing ; Chen, Chao ; Li, Bin ; Tan, Yongkai ; Chen, Longyun ; He, Minghui ; Xie, Sha ; Li, Xiangchun ; Zhuang, Xuehan ; Wang, Mengyao ; Xia, Zhi ; Luo, Longhai ; Ma, Jie ; Dong, Bing ; Zhao, Jiuzhou ; Song, Yongmei ; Ou, Yunwei ; Li, Enming ; Xu, Liyan ; Wang, Jinfen ; Xi, Yanfeng ; Li, Guodong ; Xu, Enwei ; Liang, Jianfang ; Yang, Xiaofeng ; Guo, Jiansheng ; Chen, Xing ; Zhang, Yanbo ; Li, Qingshan ; Liu, Lixin ; Li, Yingrui ; Zhang, Xiuqing ; Yang, Huanming ; Lin, Dongxin ; Cheng, Xiaolong ; Guo, Yongjun ; Wang, Jun ; Zhan, Qimin ; Cui, YongpingAmerican journal of human genetics, 2015-04, Vol.96 (4), p.597-611 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel DiseaseBrant, Steven R ; Okou, David T ; Simpson, Claire L ; Cutler, David J ; Haritunians, Talin ; Bradfield, Jonathan P ; Chopra, Pankaj ; Prince, Jarod ; Begum, Ferdouse ; Kumar, Archana ; Huang, Chengrui ; Venkateswaran, Suresh ; Datta, Lisa W ; Wei, Zhi ; Thomas, Kelly ; Herrinton, Lisa J ; Klapproth, Jan-Micheal A ; Quiros, Antonio J ; Seminerio, Jenifer ; Liu, Zhenqiu ; Alexander, Jonathan S ; Baldassano, Robert N ; Dudley-Brown, Sharon ; Cross, Raymond K ; Dassopoulos, Themistocles ; Denson, Lee A ; Dhere, Tanvi A ; Dryden, Gerald W ; Hanson, John S ; Hou, Jason K ; Hussain, Sunny Z ; Hyams, Jeffrey S ; Isaacs, Kim L ; Kader, Howard ; Kappelman, Michael D ; Katz, Jeffry ; Kellermayer, Richard ; Kirschner, Barbara S ; Kuemmerle, John F ; Kwon, John H ; Lazarev, Mark ; Li, Ellen ; Mack, David ; Mannon, Peter ; Moulton, Dedrick E ; Newberry, Rodney D ; Osuntokun, Bankole O ; Patel, Ashish S ; Saeed, Shehzad A ; Targan, Stephan R ; Valentine, John F ; Wang, Ming-Hsi ; Zonca, Martin ; Rioux, John D ; Duerr, Richard H ; Silverberg, Mark S ; Cho, Judy H ; Hakonarson, Hakon ; Zwick, Michael E ; McGovern, Dermot P.B ; Kugathasan, SubraGastroenterology (New York, N.Y. 1943), 2017-01, Vol.152 (1), p.206-217.e2 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Biology and evolution of poorly differentiated neuroendocrine tumorsRickman, David S ; Beltran, Himisha ; Demichelis, Francesca ; Rubin, Mark ANature medicine, 2017-06, Vol.23 (6), p.1-673 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Highly effective SNP-based association mapping and management of recessive defects in livestockCharlier, Carole ; Coppieters, Wouter ; Rollin, Frédéric ; Desmecht, Daniel ; Agerholm, Jorgen S ; Cambisano, Nadine ; Carta, Eloisa ; Dardano, Sabrina ; Dive, Marc ; Fasquelle, Corinne ; Frennet, Jean-Claude ; Hanset, Roger ; Hubin, Xavier ; Jorgensen, Claus ; Karim, Latifa ; Kent, Matthew ; Harvey, Kirsten ; Pearce, Brian R ; Simon, Patricia ; Tamma, Nico ; Nie, Haisheng ; Vandeputte, Sébastien ; Lien, Sigbjorn ; Longeri, Maria ; Fredholm, Merete ; Harvey, Robert J ; Georges, MichelNature genetics, 2008-04, Vol.40 (4), p.449-54 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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The Hippo Signaling Network and Its Biological FunctionsMisra, Jyoti R ; Irvine, Kenneth DAnnual review of genetics, 2018-11, Vol.52 (1), p.65-87 [Periódico revisado por pares]United States: Annual ReviewsTexto completo disponível |