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Refinado por: assunto: Genetic Predisposition To Disease remover
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1
Rastreamento de variantes de significado desconhecido (VUS) no gene RET em indivíduos-controle e em pacientes com carcinoma medular de tireoide
Rastreamento de variantes de significado desconhecido (VUS) no gene RET em indivíduos-controle e em pacientes com carcinoma medular de tireoide
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Rastreamento de variantes de significado desconhecido (VUS) no gene RET em indivíduos-controle e em pacientes com carcinoma medular de tireoide

Hatanaka, Roxanne

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2015-12-03

Acesso online. A biblioteca também possui exemplares impressos.

2
Os polimorfismos de um único nucleotídeo rs713041 no GPX4 e rs17883901 no GCLC modulam a susceptibilidade à retinopatia diabética em pacientes com diabetes mellitus tipo 1
Os polimorfismos de um único nucleotídeo rs713041 no GPX4 e rs17883901 no GCLC modulam a susceptibilidade à retinopatia diabética em pacientes com diabetes mellitus tipo 1
Material Type:
Tese de Doutorado 		Adicionar ao Meu Espaço

Os polimorfismos de um único nucleotídeo rs713041 no GPX4 e rs17883901 no GCLC modulam a susceptibilidade à retinopatia diabética em pacientes com diabetes mellitus tipo 1

Perez, Ricardo Vessoni

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2017-10-05

Acesso online

3
Identification of common genetic risk variants for autism spectrum disorder
Identification of common genetic risk variants for autism spectrum disorder
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Identification of common genetic risk variants for autism spectrum disorder

Grove, Jakob ; Ripke, Stephan ; Als, Thomas D ; Mattheisen, Manuel ; Walters, Raymond K ; Won, Hyejung ; Pallesen, Jonatan ; Agerbo, Esben ; Andreassen, Ole A ; Anney, Richard ; Awashti, Swapnil ; Belliveau, Rich ; Bettella, Francesco ; Buxbaum, Joseph D ; Bybjerg-Grauholm, Jonas ; Bækvad-Hansen, Marie ; Cerrato, Felecia ; Chambert, Kimberly ; Christensen, Jane H ; Churchhouse, Claire ; Dellenvall, Karin ; Demontis, Ditte ; De Rubeis, Silvia ; Devlin, Bernie ; Djurovic, Srdjan ; Dumont, Ashley L ; Goldstein, Jacqueline I ; Hansen, Christine S ; Hauberg, Mads Engel ; Hollegaard, Mads V ; Hope, Sigrun ; Howrigan, Daniel P ; Huang, Hailiang ; Hultman, Christina M ; Klei, Lambertus ; Maller, Julian ; Martin, Joanna ; Martin, Alicia R ; Moran, Jennifer L ; Nyegaard, Mette ; Nærland, Terje ; Palmer, Duncan S ; Palotie, Aarno ; Pedersen, Carsten Bøcker ; Pedersen, Marianne Giørtz ; dPoterba, Timothy ; Poulsen, Jesper Buchhave ; Pourcain, Beate St ; Qvist, Per ; Rehnström, Karola ; Reichenberg, Abraham ; Reichert, Jennifer ; Robinson, Elise B ; Roeder, Kathryn ; Roussos, Panos ; Saemundsen, Evald ; Sandin, Sven ; Satterstrom, F Kyle ; Davey Smith, George ; Stefansson, Hreinn ; Steinberg, Stacy ; Stevens, Christine R ; Sullivan, Patrick F ; Turley, Patrick ; Walters, G Bragi ; Xu, Xinyi ; Stefansson, Kari ; Geschwind, Daniel H ; Nordentoft, Merete ; Hougaard, David M ; Werge, Thomas ; Mors, Ole ; Mortensen, Preben Bo ; Neale, Benjamin M ; Daly, Mark J ; Børglum, Anders D

Nature genetics, 2019-03, Vol.51 (3), p.431-444 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Mahajan, Anubha ; Petty, Lauren E ; Chiou, Joshua ; Miguel-Escalada, Irene ; Nakatochi, Masahiro ; Huerta-Chagoya, Alicia ; Bielak, Lawrence F ; Hai, Yang ; Kals, Mart ; Grarup, Niels ; Wuttke, Matthias ; Nousome, Darryl ; Long, Jirong ; Ahmad, Meraj ; Jensen, Richard A ; An, Ping ; Cade, Brian E ; Abaitua, Fernando ; Akiyama, Masato ; Bertoni, Alain ; Bian, Zheng ; Brummett, Chad M ; Chee, Miao-Li ; Das, Swapan K ; Du, Shufa ; Duan, Qing ; Eckardt, Kai-Uwe ; Fischer, Krista ; Floyd, James S ; Genter, Pauline ; González-Villalpando, Maria Elena ; Gordon-Larsen, Penny ; Gorkin, David ; Herder, Christian ; Hung, Yi-Jen ; Hwu, Chii-Min ; Ikram, Mohammad Arfan ; Ingelsson, Martin ; Islam, Md Tariqul ; Isono, Masato ; Kamatani, Yoichiro ; Katsuya, Tomohiro ; Khor, Chiea-Chuen ; Kohara, Katsuhiko ; Kriebel, Jennifer ; Kuusisto, Johanna ; Läll, Kristi ; Leong, Aaron ; Luan, Jian'an ; Lv, Jun ; Lyssenko, Valeriya ; Meitinger, Thomas ; Morris, Andrew D ; Nadkarni, Girish N ; Nayak, Uma ; Ntalla, Ioanna ; Peters, Annette ; Preissl, Sebastian ; Rasmussen-Torvik, Laura J ; Roden, Michael ; Sabanayagam, Charumathi ; Schönherr, Sebastian ; Shahriar, Mohammad ; Shi, Jinxiu ; Stančáková, Alena ; Strauch, Konstantin ; Thorleifsson, Gudmar ; Thorsteinsdottir, Unnur ; Tsai, Fuu-Jen ; Tusie-Luna, Teresa ; Udler, Miriam S ; Valladares-Salgado, Adan ; Yajnik, Chittaranjan S ; Yoon, Kyungheon ; Igase, Michiya ; Hanis, Craig L ; Ingelsson, Erik ; Zeggini, Eleftheria ; Rich, Stephen S ; Kooperberg, Charles ; Engert, James C ; Wilson, James G ; Kardia, Sharon L R ; Groop, Leif ; Bharadwaj, Dwaipayan ; Sale, Michèle M ; Cruz, Miguel ; Tai, E-Shyong ; Kato, Norihiro ; Laakso, Markku ; Köttgen, Anna ; Loos, Ruth J F ; Saleheen, Danish ; Hansen, Torben ; Kadowaki, Takashi ; Walters, Robin G ; Stefansson, Kari ; Meigs, James B ; Gloyn, Anna L ; Chambers, John C

Nature genetics, 2022-05, Vol.54 (5), p.560-572 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
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Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

Yu, Dongmei ; Sul, Jae Hoon ; Tsetsos, Fotis ; Nawaz, Muhammad S ; Huang, Alden Y ; Zelaya, Ivette ; Illmann, Cornelia ; Osiecki, Lisa ; Darrow, Sabrina M ; Hirschtritt, Matthew E ; Greenberg, Erica ; Muller-Vahl, Kirsten R ; Stuhrmann, Manfred ; Dion, Yves ; Rouleau, Guy ; Aschauer, Harald ; Stamenkovic, Mara ; Schlögelhofer, Monika ; Sandor, Paul ; Barr, Cathy L ; Grados, Marco ; Singer, Harvey S ; Nöthen, Markus M ; Hebebrand, Johannes ; Hinney, Anke ; King, Robert A ; Fernandez, Thomas V ; Barta, Csaba ; Tarnok, Zsanett ; Nagy, Peter ; Depienne, Christel ; Worbe, Yulia ; Hartmann, Andreas ; Budman, Cathy L ; Rizzo, Renata ; Lyon, Gholson J ; McMahon, William M ; Batterson, James R ; Cath, Danielle C ; Malaty, Irene A ; Okun, Michael S ; Berlin, Cheston ; Woods, Douglas W ; Lee, Paul C ; Jankovic, Joseph ; Robertson, Mary M ; Gilbert, Donald L ; Brown, Lawrence W ; Coffey, Barbara J ; Dietrich, Andrea ; Hoekstra, Pieter J ; Kuperman, Samuel ; Zinner, Samuel H ; Luðvigsson, Pétur ; Sæmundsen, Evald ; Thorarensen, Ólafur ; Atzmon, Gil ; Barzilai, Nir ; Wagner, Michael ; Moessner, Rainald ; Ophoff, Roel ; Pato, Carlos N ; Pato, Michele T ; Knowles, James A ; Roffman, Joshua L ; Smoller, Jordan W ; Buckner, Randy L ; Willsey, A. Jeremy ; Tischfield, Jay A ; Heiman, Gary A ; Stefansson, Hreinn ; Stefansson, Kári ; Posthuma, Danielle ; Cox, Nancy J ; Pauls, David L ; Freimer, Nelson B ; Neale, Benjamin M ; Davis, Lea K ; Paschou, Peristera ; Coppola, Giovanni ; Mathews, Carol A ; Scharf, Jeremiah M

The American journal of psychiatry, 2019-03, Vol.176 (3), p.217-227 [Periódico revisado por pares]

United States: American Psychiatric Association

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6
A genome-wide scan for common alleles affecting risk for autism
A genome-wide scan for common alleles affecting risk for autism
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A genome-wide scan for common alleles affecting risk for autism

Pinto, Dalila ; Regan, Regina ; Magalhaes, Tiago R. ; Abrahams, Brett S. ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Brennan, Sean ; Carson, Andrew R. ; Casallo, Guillermo ; Chu, Su H. ; Cochrane, Lynne ; Dawson, Geraldine ; de Jonge, Maretha ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Fernandez, Bridget A. ; Fombonne, Eric ; Freitag, Christine M. ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Heron, Elizabeth A. ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Kim, Cecilia ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Leboyer, Marion ; Leventhal, Bennett L. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Marshall, Christian R. ; McConachie, Helen ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roge, Bernadette ; Bierut, Laura J. ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Stoppioni, Vera ; Tancredi, Raffaella ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Van Engeland, Herman ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Paterson, Andrew D. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Wijsman, Ellen M. ; Devlin, Bernie ; Hallmayer, Joachim

Human molecular genetics, 2010-10, Vol.19 (20), p.4072-4082 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial)
Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial)
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Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial)

Kullo, Iftikhar J ; Jouni, Hayan ; Austin, Erin E ; Brown, Sherry-Ann ; Kruisselbrink, Teresa M ; Isseh, Iyad N ; Haddad, Raad A ; Marroush, Tariq S ; Shameer, Khader ; Olson, Janet E ; Broeckel, Ulrich ; Green, Robert C ; Schaid, Daniel J ; Montori, Victor M ; Bailey, Kent R

Circulation (New York, N.Y.), 2016-03, Vol.133 (12), p.1181-1188 [Periódico revisado por pares]

United States: by the American College of Cardiology Foundation and the American Heart Association, Inc

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8
Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic
Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic
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Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic

Bowden, Jack ; Del Greco M, Fabiola ; Minelli, Cosetta ; Davey Smith, George ; Sheehan, Nuala A ; Thompson, John R

International journal of epidemiology, 2016-12, Vol.45 (6), p.1961-1974 [Periódico revisado por pares]

England: Oxford University Press

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9
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
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SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

D’Antonio, Matteo ; Chwialkowska, Karolina ; Tenesa, Albert ; D’Mellow, Kenton ; Aprile von Hohenstaufen, Kathrin ; Eltoukhy, Madonna M. ; Yassen, Amr M. ; Moahmed, Hanteera S. ; Tobin, Martin D. ; Guyatt, Anna L. ; Hollox, Edward J. ; Sharififard, Bahareh ; Abdollahi, Hamed ; Puthanakit, Thanyawee ; Suchartlikitwong, Pintip ; Sodsai, Pimpayao ; Alaamery, Manal ; Aljawini, Nora ; Albesher, Nour ; Alahmadey, Ziab Z. ; Suliman, Bandar A. ; Al-Afghani, Hani ; Massadeh, Salam ; Muiño, Elena ; Coto, Eliecer ; Albaiceta, Guillermo M. ; Dietl, Beatriz ; Martí-Fàbregas, Joan ; Villalonga, Joan Montaner ; Menéndez-Valladares, Paloma ; Glessner, Joseph R. ; Forgetta, Vincenzo ; Ghosh, Biswarup ; Guiot, Julien ; Guntz, Julien ; Beguin, Yves ; Claassen, Sabine ; Malaise, Olivier ; Daya, Michelle ; Chavan, Sameer ; Laisk, Triin ; Alavere, Helene ; Metsalu, Kristjan ; Peterson, Pärt ; Cortés, Beatriz ; Torrents, David ; Fallerini, Chiara ; Doddato, Gabriella ; Bruttini, Mirella ; Pinto, Anna Maria ; Bruno, Raffaele ; Picchiotti, Nicola ; Mantovani, Stefania ; Bargagli, Elena ; D’Alessandro, Miriana ; Franchi, Federico ; Cantarini, Luca ; Tacconi, Danilo ; Desanctis, Elena ; Antinori, Andrea ; Vergori, Alessandra ; Baratti, Stefano ; Menatti, Elisabetta ; Trotta, Tullio ; Martinelli, Enrico ; Bachetti, Tiziana ; Ceri, Stefano ; Parati, Gianfranco ; Ravaglia, Sabrina ; Catena, Emanuele ; Pessina, Gloria ; Tumbarello, Mario ; Guarnaccia, Alessandra ; Boughton, Andrew P. ; Annis, Aubrey ; Carey, Dave J. ; Gass, Matthew C. ; Abecasis, Goncalo R. ; Butterworth, Adam S. ; Nivard, Michel (M.G.) ; de geus, Eco (E.J.C.) ; Verma, Anurag ; Ritchie, Marylyn D. ; Verma, Shefali S. ; Lucas, Anastasia ; Karczewski, Konrad J. ; Walters, Raymond K. ; Palmer, Duncan S. ; Sarma, Gopal ; Crook, Derrick W. ; Koelling, Nils ; Moutsianas, Loukas ; Rhodes, Daniel ; Ball, Catherine A. ; Baltzell, Asher Haug ; Gaddis, Michael ; Noto, Keith ; Tang, Lara ; Nadkarni, Girish N. ; Choi, Sam

Cell reports (Cambridge), 2021-11, Vol.37 (7), p.110020-110020, Article 110020 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Improving the visualization, interpretation and analysis of two-sample summary data Mendelian randomization via the Radial plot and Radial regression
Improving the visualization, interpretation and analysis of two-sample summary data Mendelian randomization via the Radial plot and Radial regression
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Improving the visualization, interpretation and analysis of two-sample summary data Mendelian randomization via the Radial plot and Radial regression

Bowden, Jack ; Spiller, Wesley ; Del Greco M, Fabiola ; Sheehan, Nuala ; Thompson, John ; Minelli, Cosetta ; Davey Smith, George

International journal of epidemiology, 2018-08, Vol.47 (4), p.1264-1278 [Periódico revisado por pares]

England: Oxford University Press

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