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Refinado por: assunto: Medical Genetics remover
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1
Genetic studies of body mass index yield new insights for obesity biology
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Artigo
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Genetic studies of body mass index yield new insights for obesity biology

Berndt, Sonja I ; Esko, Tonu ; Fall, Tove ; Gustafsson, Stefan ; Workalemahu, Tsegaselassie ; Smith, Jennifer A ; Absher, Devin ; Amin, Najaf ; Deng, Guohong ; Feitosa, Mary F ; Gong, Jian ; Pasko, Dorota ; Shungin, Dmitry ; Strawbridge, Rona J ; Zhang, Weihua ; Bellis, Claire ; Berne, Christian ; Böhringer, Stefan ; Bonnycastle, Lori L ; Boyd, Heather A ; Bruinenberg, Marcel ; Clarke, Robert ; Delgado, Graciela ; Folkersen, Lasse ; Garcia, Melissa E ; Grönberg, Henrik ; Gusto, Gaëlle ; Hassinen, Maija ; Johansson, Åsa ; Kinnunen, Leena ; Kratzer, Wolfgang ; Lichtner, Peter ; Lind, Lars ; Lorbeer, Roberto ; Mahajan, Anubha ; Menni, Cristina ; Milani, Lili ; Musk, Arthur W ; Rettig, Rainer ; Sanna, Serena ; Schumacher, Fredrick R ; Shi, Jianxin ; Swift, Amy J ; Thorand, Barbara ; Waterworth, Dawn ; Wright, Alan F ; Zhang, Qunyuan ; Choi, Murim ; Dastani, Zari ; Gådin, Jesper R ; Handsaker, Robert E ; Kubo, Michiaki ; Salem, Rany M ; Tanaka, Toshihiro ; Bakker, Stephan J L ; Bovet, Pascal ; Campbell, Harry ; Cesana, Giancarlo ; Chakravarti, Aravinda ; Chines, Peter S ; Crawford, Dana C ; den Ruijter, Hester M ; Farrall, Martin ; Ferrières, Jean ; Forrester, Terrence ; Hindorff, Lucia A ; Humphries, Steve E ; Hyppönen, Elina ; Jukema, J Wouter ; Kovacs, Peter ; Kuusisto, Johanna ; Männistö, Satu ; Morris, Andrew D ; Murray, Jeffrey C ; Oldehinkel, Albertine J ; Rioux, John D ; Samani, Nilesh J ; Sarzynski, Mark A ; Stolk, Ronald P ; Völker, Uwe ; Waeber, Gérard ; Bochud, Murielle ; Bottinger, Erwin P ; Bouchard, Claude ; Froguel, Philippe ; Groop, Leif C ; Hamsten, Anders ; Hui, Jennie ; Hunter, David J ; Kaplan, Robert C ; Schadt, Eric E ; van der Harst, Pim ; Watkins, Hugh ; Weir, David R ; Wilson, James F ; Heid, Iris M ; Stefansson, Kari ; Abecasis, Gonçalo R ; McCarthy, Mark I ; Hirschhorn, Joel N

Nature (London), 2015-02, Vol.518 (7538), p.197-206 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Thompson & Thompson genetics in medicine
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Livro
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Thompson & Thompson genetics in medicine

Robert L Nussbaum 1950 Roderick R McInnes; Huntington F Willard; Ada Hamosh; Margaret W Thompson (Margaret Wilson) 1920

Philadelphia Saunders/Elsevier c2007

Localização: FM - Fac. Medicina    (QZ50 N958t 7.ed. 2007 ex.1 )(Acessar)

3
The landscape of viral associations in human cancers
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The landscape of viral associations in human cancers

Zapatka, Marc ; Borozan, Ivan ; Brewer, Daniel S ; Iskar, Murat ; Grundhoff, Adam ; Alawi, Malik ; Desai, Nikita ; Sültmann, Holger ; Moch, Holger ; Cooper, Colin S ; Eils, Roland ; Ferretti, Vincent ; Lichter, Peter

Nature genetics, 2020-03, Vol.52 (3), p.320-330 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
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Artigo
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Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Duffy, David L ; Zhu, Gu ; Li, Xin ; Sanna, Marianna ; Iles, Mark M ; Jacobs, Leonie C ; Evans, David M ; Yazar, Seyhan ; Beesley, Jonathan ; Law, Matthew H ; Kraft, Peter ; Visconti, Alessia ; Taylor, John C ; Liu, Fan ; Wright, Margaret J ; Henders, Anjali K ; Bowdler, Lisa ; Glass, Dan ; Ikram, M Arfan ; Uitterlinden, André G ; Madden, Pamela A ; Heath, Andrew C ; Nelson, Elliot C ; Green, Adele C ; Chanock, Stephen ; Barrett, Jennifer H ; Brown, Matthew A ; Hayward, Nicholas K ; MacGregor, Stuart ; Sturm, Richard A ; Hewitt, Alex W ; Kayser, Manfred ; Hunter, David J ; Newton Bishop, Julia A ; Spector, Timothy D ; Montgomery, Grant W ; Mackey, David A ; Smith, George Davey ; Nijsten, Tamar E ; Bishop, D Timothy ; Bataille, Veronique ; Falchi, Mario ; Han, Jiali ; Martin, Nicholas G

Nature communications, 2018-11, Vol.9 (1), p.4774-10, Article 4774 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
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Artigo
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Surendran, 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 B

Nature genetics, 2020-12, Vol.52 (12), p.1314-1332 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
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Artigo
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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Abdel-Rahman, Mohamed H ; Pilarski, Robert ; Cebulla, Colleen M ; Massengill, James B ; Christopher, Benjamin N ; Boru, Getachew ; Hovland, Peter ; Davidorf, Frederick H

Journal of medical genetics, 2011-12, Vol.48 (12), p.856-859 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Rare and low-frequency coding variants alter human adult height
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Artigo
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Rare and low-frequency coding variants alter human adult height

Marouli, Eirini ; Lo, Ken Sin ; Kjaer, Troels R ; Rüeger, Sina ; Young, Kristin L ; Esko, Tõnu ; Karaderi, Tugce ; Aben, Katja K ; Adair, Linda S ; Alam, Dewan S ; Albrecht, Eva ; Auer, Paul L ; Bonnycastle, Lori L ; Bots, Michiel L ; Brandslund, Ivan ; Butterworth, Adam S ; Chambers, John C ; Chen, Yii-Der Ida ; Chowdhury, Rajiv ; Christensen, Cramer ; Chu, Audrey Y ; Cook, James P ; Cox, Amanda J ; Demerath, Ellen W ; Drenos, Fotios ; Ebeling, Tapani ; Ferrario, Marco M ; Fornage, Myriam ; Galesloot, Tessel E ; Gasparini, Paolo ; Giri, Ayush ; Hayward, Caroline ; Hocking, Lynne J ; Ikram, M Arfan ; Jensen, Gorm B ; Jiang, Xuejuan ; Kee, Frank ; Kitajima, Hidetoshi ; Komulainen, Pirjo ; Kontto, Jukka ; Kuivaniemi, Helena ; Laakso, Markku ; Lange, Leslie A ; Lewis, Cora E ; Lind, Lars ; Liu, Yeheng ; Luan, Jian'an ; Lubitz, Steven A ; Männistö, Satu ; Marten, Jonathan ; Mitchell, Paul ; Nauck, Matthias ; Neville, Matt ; Nielsen, Sune F ; Nordestgaard, Børge G ; Ntalla, Ioanna ; Owen, Katharine R ; Padmanabhan, Sandosh ; Palmer, Colin N A ; Patel, Aniruddh P ; Perry, James A ; Perry, John R B ; Polasek, Ozren ; Reiner, Alex P ; Renström, Frida ; Rioux, John D ; Rudan, Igor ; Sapkota, Yadav ; Schreiner, Pamela J ; Scott, Robert A ; Shah, Svati ; Sim, Xueling ; Smith, Albert Vernon ; Southam, Lorraine ; Spector, Timothy D ; Thorsteinsdottir, Unnur ; Tuomilehto, Jaakko ; Tybjaerg-Hansen, Anne ; Uitterlinden, André G ; Ulivi, Sheila ; van Schoor, Natasja M ; van Setten, Jessica ; Vermeulen, Sita H ; Vestergaard, Henrik ; Vogt, Thomas F ; Vozzi, Diego ; Wang, Carol A ; Wang, Shuai ; Wang, Yiqin ; Wareham, Nicholas J ; Wu, Ying ; Zhan, Xiaowei ; Zheng, He ; Zhou, Wei ; Boehnke, Michael ; Borecki, Ingrid B ; Kutalik, Zoltán ; Frayling, Timothy M ; Hirschhorn, Joel N ; Deloukas, Panos

Nature (London), 2017-02, Vol.542 (7640), p.186-190 [Periódico revisado por pares]

England: Nature Publishing Group

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8
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, 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 G

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Genetic insights into biological mechanisms governing human ovarian ageing
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Artigo
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Genetic insights into biological mechanisms governing human ovarian ageing

Hussain, Jazib ; Claringbould, Annique ; Bakker, Olivier B ; Walters, Robin G ; Terao, Chikashi ; Onland-Moret, N Charlotte ; Olsen, Kristina W ; Arnold, Alice M ; Bandinelli, Stefania ; Bergmann, Sven ; Bochud, Murielle ; Boerwinkle, Eric ; Bowker, Nicholas ; Broer, Linda ; Buring, Julie E ; Campbell, Archie ; Corre, Tanguy ; Couch, Fergus J ; Cross, Simon S ; Cucca, Francesco ; Smith, George Davey ; de Mutsert, Renée ; Dwek, Miriam ; Eriksson, Mikael ; Esko, Tõnu ; Fasching, Peter A ; Faul, Jessica D ; García-Closas, Montserrat ; Grallert, Harald ; Gudbjartsson, Daniel F ; Guénel, Pascal ; Håkansson, Niclas ; Hayward, Caroline ; Heiss, Gerardo ; Høffding, Miya K ; Hottenga, Jouke J ; Hu, Frank ; Hunter, David ; Kardia, Sharon L R ; Kartsonaki, Christiana ; Karlsson, Robert ; Kraft, Peter ; Kurian, Allison W ; Langenberg, Claudia ; Laven, Joop S E ; Lawlor, Deborah A ; Li, Jingmei ; Lindstrom, Sara ; Lindstrom, Tricia ; Linet, Martha ; Luan, Jian'an ; Mägi, Reedik ; Mangino, Massimo ; Mbarek, Hamdi ; Medland, Sarah E ; Meitinger, Thomas ; Metspalu, Andres ; Newman, Anne ; Nyholt, Dale R ; Olshan, Andrew F ; Olsson, Håkan ; Perjakova, Natalia ; Porcu, Eleonora ; Rahman, Iffat ; Rennert, Hedy S ; Rosendaal, Frits R ; Rossouw, Jacques ; Rudan, Igor ; Rueedi, Rico ; Saloustros, Emmanouil ; Sandler, Dale P ; Schmidt, Marjanka K ; Schraut, Katharina E ; Shekari, Saleh ; Smith, Jennifer A ; Southey, Melissa C ; Spector, Tim D ; Styrkarsdottir, Unnur ; Teumer, Alexander ; Toniolo, Daniela ; Traglia, Michela ; Uitterlinden, André G ; Ulivi, Sheila ; Vachon, Celine M ; Völker, Uwe ; Völzke, Henry ; Wareham, Nicholas J ; Wilcox, Amber N ; van Dijk, Ko Willems ; Wilson, James F ; Wolffenbuttel, Bruce H R ; Wolk, Alicja ; Wood, Andrew R ; Burgess, Stephen ; Daniel, Jeremy A ; Easton, Douglas F ; Namekawa, Satoshi H ; Solc, Petr ; Murabito, Joanne M ; Perry, John R B

Nature (London), 2021-08, Vol.596 (7872), p.393-397 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
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Artigo
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Jin, Sheng Chih ; Lewis, Sara A ; Bakhtiari, Somayeh ; Zeng, Xue ; Sierant, Michael C ; Shetty, Sheetal ; Nordlie, Sandra M ; Elie, Aureliane ; Corbett, Mark A ; Norton, Bethany Y ; van Eyk, Clare L ; Haider, Shozeb ; Guida, Brandon S ; Magee, Helen ; Liu, James ; Pastore, Stephen ; Vincent, John B ; Brunstrom-Hernandez, Janice ; Papavasileiou, Antigone ; Fahey, Michael C ; Berry, Jesia G ; Harper, Kelly ; Zhou, Chongchen ; Zhang, Junhui ; Li, Boyang ; Zhao, Hongyu ; Heim, Jennifer ; Webber, Dani L ; Frank, Mahalia S B ; Xia, Lei ; Xu, Yiran ; Zhu, Dengna ; Zhang, Bohao ; Sheth, Amar H ; Knight, James R ; Castaldi, Christopher ; Tikhonova, Irina R ; López-Giráldez, Francesc ; Keren, Boris ; Whalen, Sandra ; Buratti, Julien ; Doummar, Diane ; Cho, Megan ; Retterer, Kyle ; Millan, Francisca ; Wang, Yangong ; Waugh, Jeff L ; Rodan, Lance ; Cohen, Julie S ; Fatemi, Ali ; Lin, Angela E ; Phillips, John P ; Feyma, Timothy ; MacLennan, Suzanna C ; Vaughan, Spencer ; Crompton, Kylie E ; Reid, Susan M ; Reddihough, Dinah S ; Shang, Qing ; Gao, Chao ; Novak, Iona ; Badawi, Nadia ; Wilson, Yana A ; McIntyre, Sarah J ; Mane, Shrikant M ; Wang, Xiaoyang ; Amor, David J ; Zarnescu, Daniela C ; Lu, Qiongshi ; Xing, Qinghe ; Zhu, Changlian ; Bilguvar, Kaya ; Padilla-Lopez, Sergio ; Lifton, Richard P ; Gecz, Jozef ; MacLennan, Alastair H ; Kruer, Michael C

Nature genetics, 2020-10, Vol.52 (10), p.1046-1056 [Periódico revisado por pares]

United States: Nature Publishing Group

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Deste Autor:

  1. Emery, A
  2. Willard, H
  3. Thompson, M
  4. McInnes, R
  5. McKusick, V

Buscando em bases de dados remotas. Favor aguardar.