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Refinado por: assunto: Genetic Predisposition To Disease remover assunto: Mutation 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
Material Type:
Dissertação de Mestrado 		Adicionar ao Meu Espaço

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
Identification of common genetic risk variants for autism spectrum disorder
Identification of common genetic risk variants for autism spectrum disorder
Material Type:
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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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3
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
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Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

Khera, Amit V ; Chaffin, Mark ; Aragam, Krishna G ; Haas, Mary E ; Roselli, Carolina ; Choi, Seung Hoan ; Natarajan, Pradeep ; Lander, Eric S ; Lubitz, Steven A ; Ellinor, Patrick T ; Kathiresan, Sekar

Nature genetics, 2018-09, Vol.50 (9), p.1219-1224 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
An integrated map of structural variation in 2,504 human genomes
An integrated map of structural variation in 2,504 human genomes
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An integrated map of structural variation in 2,504 human genomes

Sudmant, Peter H ; Rausch, Tobias ; Gardner, Eugene J ; Handsaker, Robert E ; Abyzov, Alexej ; Huddleston, John ; Zhang, Yan ; Ye, Kai ; Jun, Goo ; Fritz, Markus Hsi-Yang ; Konkel, Miriam K ; Malhotra, Ankit ; Stütz, Adrian M ; Shi, Xinghua ; Casale, Francesco Paolo ; Chen, Jieming ; Hormozdiari, Fereydoun ; Dayama, Gargi ; Chen, Ken ; Malig, Maika ; Chaisson, Mark J P ; Walter, Klaudia ; Meiers, Sascha ; Kashin, Seva ; Garrison, Erik ; Auton, Adam ; Lam, Hugo Y K ; Mu, Xinmeng Jasmine ; Alkan, Can ; Antaki, Danny ; Bae, Taejeong ; Cerveira, Eliza ; Chines, Peter ; Chong, Zechen ; Clarke, Laura ; Dal, Elif ; Ding, Li ; Emery, Sarah ; Fan, Xian ; Gujral, Madhusudan ; Kahveci, Fatma ; Kidd, Jeffrey M ; Kong, Yu ; Lameijer, Eric-Wubbo ; McCarthy, Shane ; Flicek, Paul ; Gibbs, Richard A ; Marth, Gabor ; Mason, Christopher E ; Menelaou, Androniki ; Muzny, Donna M ; Nelson, Bradley J ; Noor, Amina ; Parrish, Nicholas F ; Pendleton, Matthew ; Quitadamo, Andrew ; Raeder, Benjamin ; Schadt, Eric E ; Romanovitch, Mallory ; Schlattl, Andreas ; Sebra, Robert ; Shabalin, Andrey A ; Untergasser, Andreas ; Walker, Jerilyn A ; Wang, Min ; Yu, Fuli ; Zhang, Chengsheng ; Zhang, Jing ; Zheng-Bradley, Xiangqun ; Zhou, Wanding ; Zichner, Thomas ; Sebat, Jonathan ; Batzer, Mark A ; McCarroll, Steven A ; Mills, Ryan E ; Gerstein, Mark B ; Bashir, Ali ; Stegle, Oliver ; Devine, Scott E ; Lee, Charles ; Eichler, Evan E ; Korbel, Jan O

Nature (London), 2015-10, Vol.526 (7571), p.75-81 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
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Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

Majithia, Amit R. ; Flannick, Jason ; Shahinian, Peter ; Guo, Michael ; Bray, Mark-Anthony ; Fontanillas, Pierre ; Gabriel, Stacey B. ; Rosen, Evan D. ; Altshuler, David

Proceedings of the National Academy of Sciences - PNAS, 2014-09, Vol.111 (36), p.13127-13132 [Periódico revisado por pares]

United States: National Academy of Sciences

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6
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
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Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

Pardiñas, Antonio F ; Holmans, Peter ; Pocklington, Andrew J ; Escott-Price, Valentina ; Ripke, Stephan ; Carrera, Noa ; Legge, Sophie E ; Bishop, Sophie ; Cameron, Darren ; Hamshere, Marian L ; Han, Jun ; Hubbard, Leon ; Lynham, Amy ; Mantripragada, Kiran ; Rees, Elliott ; MacCabe, James H ; McCarroll, Steven A ; Baune, Bernhard T ; Breen, Gerome ; Byrne, Enda M ; Dannlowski, Udo ; Eley, Thalia C ; Hayward, Caroline ; Martin, Nicholas G ; McIntosh, Andrew M ; Plomin, Robert ; Porteous, David J ; Wray, Naomi R ; Caballero, Armando ; Geschwind, Daniel H ; Huckins, Laura M ; Ruderfer, Douglas M ; Santiago, Enrique ; Sklar, Pamela ; Stahl, Eli A ; Won, Hyejung ; Agerbo, Esben ; Als, Thomas D ; Andreassen, Ole A ; Bækvad-Hansen, Marie ; Mortensen, Preben Bo ; Pedersen, Carsten Bøcker ; Børglum, Anders D ; Bybjerg-Grauholm, Jonas ; Djurovic, Srdjan ; Durmishi, Naser ; Pedersen, Marianne Giørtz ; Golimbet, Vera ; Grove, Jakob ; Hougaard, David M ; Mattheisen, Manuel ; Molden, Espen ; Mors, Ole ; Nordentoft, Merete ; Pejovic-Milovancevic, Milica ; Sigurdsson, Engilbert ; Silagadze, Teimuraz ; Hansen, Christine Søholm ; Stefansson, Kari ; Stefansson, Hreinn ; Steinberg, Stacy ; Tosato, Sarah ; Werge, Thomas ; Collier, David A ; Rujescu, Dan ; Kirov, George ; Owen, Michael J ; O'Donovan, Michael C ; Walters, James T R

Nature genetics, 2018-03, Vol.50 (3), p.381-389 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Most genetic risk for autism resides with common variation
Most genetic risk for autism resides with common variation
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Most genetic risk for autism resides with common variation

Gaugler, Trent ; Klei, Lambertus ; Sanders, Stephan J ; Bodea, Corneliu A ; Goldberg, Arthur P ; Lee, Ann B ; Mahajan, Milind ; Manaa, Dina ; Pawitan, Yudi ; Reichert, Jennifer ; Ripke, Stephan ; Sandin, Sven ; Sklar, Pamela ; Svantesson, Oscar ; Reichenberg, Abraham ; Hultman, Christina M ; Devlin, Bernie ; Roeder, Kathryn ; Buxbaum, Joseph D

Nature genetics, 2014-08, Vol.46 (8), p.881-885 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Excess of rare, inherited truncating mutations in autism
Excess of rare, inherited truncating mutations in autism
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Excess of rare, inherited truncating mutations in autism

Krumm, Niklas ; Turner, Tychele N ; Baker, Carl ; Vives, Laura ; Mohajeri, Kiana ; Witherspoon, Kali ; Raja, Archana ; Coe, Bradley P ; Stessman, Holly A ; He, Zong-Xiao ; Leal, Suzanne M ; Bernier, Raphael ; Eichler, Evan E

Nature genetics, 2015-06, Vol.47 (6), p.582-588 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
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Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Porcu, Eleonora ; Rüeger, Sina ; Lepik, Kaido ; Santoni, Federico A ; Reymond, Alexandre ; Kutalik, Zoltán

Nature communications, 2019-07, Vol.10 (1), p.3300-12, Article 3300 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Dorschner, Michael O. ; Amendola, Laura M. ; Turner, Emily H. ; Robertson, Peggy D. ; Shirts, Brian H. ; Gallego, Carlos J. ; Bennett, Robin L. ; Jones, Kelly L. ; Tokita, Mari J. ; Bennett, James T. ; Kim, Jerry H. ; Rosenthal, Elisabeth A. ; Kim, Daniel S. ; Tabor, Holly K. ; Bamshad, Michael J. ; Motulsky, Arno G. ; Scott, C. Ronald ; Pritchard, Colin C. ; Walsh, Tom ; Burke, Wylie ; Raskind, Wendy H. ; Byers, Peter ; Hisama, Fuki M. ; Nickerson, Deborah A. ; Jarvik, Gail P.

American journal of human genetics, 2013-10, Vol.93 (4), p.631-640 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Toledo, S
  2. Hatanaka, R

Neste Assunto:

  1. Genetic Predisposition To Disease
  2. Mutation
  3. Genetic Predisposition To Disease
  4. Mutation
  5. Humans

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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