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Refinado por: assunto: Genes remover
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1
Determinação de mutações e polimorfismo nos genes BRCA1 e BRCA2 em pacientes com  câncer de mama com indicação para teste genético
Determinação de mutações e polimorfismo nos genes BRCA1 e BRCA2 em pacientes com  câncer de mama com indicação para teste genético
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Determinação de mutações e polimorfismo nos genes BRCA1 e BRCA2 em pacientes com  câncer de mama com indicação para teste genético

Escobar, Karina Augusto

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2011-08-08

Acesso online. A biblioteca também possui exemplares impressos.

2
Synaptic, transcriptional and chromatin genes disrupted in autism
Synaptic, transcriptional and chromatin genes disrupted in autism
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Synaptic, transcriptional and chromatin genes disrupted in autism

De Rubeis, Silvia ; He, Xin ; Goldberg, Arthur P ; Poultney, Christopher S ; Samocha, Kaitlin ; Cicek, A Erucment ; Kou, Yan ; Liu, Li ; Fromer, Menachem ; Walker, Susan ; Singh, Tarinder ; Klei, Lambertus ; Kosmicki, Jack ; Shih-Chen, Fu ; Aleksic, Branko ; Biscaldi, Monica ; Bolton, Patrick F ; Brownfeld, Jessica M ; Cai, Jinlu ; Campbell, Nicholas G ; Carracedo, Angel ; Chahrour, Maria H ; Chiocchetti, Andreas G ; Coon, Hilary ; Crawford, Emily L ; Curran, Sarah R ; Dawson, Geraldine ; Duketis, Eftichia ; Fernandez, Bridget A ; Gallagher, Louise ; Geller, Evan ; Guter, Stephen J ; Hill, R Sean ; Ionita-Laza, Juliana ; Jimenz Gonzalez, Patricia ; Kilpinen, Helena ; Klauck, Sabine M ; Kolevzon, Alexander ; Lee, Irene ; Lei, Irene ; Lei, Jing ; Lehtimäki, Terho ; Lin, Chiao-Feng ; Ma'ayan, Avi ; Marshall, Christian R ; McInnes, Alison L ; Neale, Benjamin ; Owen, Michael J ; Ozaki, Noriio ; Parellada, Mara ; Parr, Jeremy R ; Purcell, Shaun ; Puura, Kaija ; Rajagopalan, Deepthi ; Rehnström, Karola ; Reichenberg, Abraham ; Sabo, Aniko ; Sachse, Michael ; Sanders, Stephan J ; Schafer, Chad ; Schulte-Rüther, Martin ; Skuse, David ; Stevens, Christine ; Szatmari, Peter ; Tammimies, Kristiina ; Valladares, Otto ; Voran, Annette ; Li-San, Wang ; Weiss, Lauren A ; Willsey, A Jeremy ; Yu, Timothy W ; Yuen, Ryan K C ; Cook, Edwin H ; Freitag, Christine M ; Gill, Michael ; Hultman, Christina M ; Lehner, Thomas ; Palotie, Aaarno ; Schellenberg, Gerard D ; Sklar, Pamela ; State, Matthew W ; Sutcliffe, James S ; Walsh, Christiopher A ; Scherer, Stephen W ; Zwick, Michael E ; Barett, Jeffrey C ; Cutler, David J ; Roeder, Kathryn ; Devlin, Bernie ; Daly, Mark J ; Buxbaum, Joseph D

Nature (London), 2014-11, Vol.515 (7526), p.209-215 [Periódico revisado por pares]

England: Nature Publishing Group

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3
The landscape of genomic alterations across childhood cancers
The landscape of genomic alterations across childhood cancers
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The landscape of genomic alterations across childhood cancers

Gröbner, Susanne N ; Worst, Barbara C ; Weischenfeldt, Joachim ; Buchhalter, Ivo ; Kleinheinz, Kortine ; Rudneva, Vasilisa A ; Johann, Pascal D ; Balasubramanian, Gnana Prakash ; Segura-Wang, Maia ; Brabetz, Sebastian ; Bender, Sebastian ; Hutter, Barbara ; Sturm, Dominik ; Pfaff, Elke ; Hübschmann, Daniel ; Zipprich, Gideon ; Heinold, Michael ; Eils, Jürgen ; Lawerenz, Christian ; Erkek, Serap ; Lambo, Sander ; Waszak, Sebastian ; Blattmann, Claudia ; Borkhardt, Arndt ; Kuhlen, Michaela ; Eggert, Angelika ; Fulda, Simone ; Gessler, Manfred ; Wegert, Jenny ; Kappler, Roland ; Baumhoer, Daniel ; Burdach, Stefan ; Kirschner-Schwabe, Renate ; Kontny, Udo ; Kulozik, Andreas E ; Lohmann, Dietmar ; Hettmer, Simone ; Eckert, Cornelia ; Bielack, Stefan ; Nathrath, Michaela ; Niemeyer, Charlotte ; Richter, Günther H ; Schulte, Johannes ; Siebert, Reiner ; Westermann, Frank ; Molenaar, Jan J ; Vassal, Gilles ; Witt, Hendrik ; Burkhardt, Birgit ; Kratz, Christian P ; Witt, Olaf ; van Tilburg, Cornelis M ; Kramm, Christof M ; Fleischhack, Gudrun ; Dirksen, Uta ; Rutkowski, Stefan ; Frühwald, Michael ; von Hoff, Katja ; Wolf, Stephan ; Klingebiel, Thomas ; Koscielniak, Ewa ; Landgraf, Pablo ; Koster, Jan ; Resnick, Adam C ; Zhang, Jinghui ; Liu, Yanling ; Zhou, Xin ; Waanders, Angela J ; Zwijnenburg, Danny A ; Raman, Pichai ; Brors, Benedikt ; Weber, Ursula D ; Northcott, Paul A ; Pajtler, Kristian W ; Kool, Marcel ; Piro, Rosario M ; Korbel, Jan O ; Schlesner, Matthias ; Eils, Roland ; Jones, David T W ; Lichter, Peter ; Chavez, Lukas ; Zapatka, Marc ; Pfister, Stefan M

Nature (London), 2018-03, Vol.555 (7696), p.321-327 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Rheinbay, Esther ; Nielsen, Morten Muhlig ; Abascal, Federico ; Wala, Jeremiah A ; Shapira, Ofer ; Tiao, Grace ; Hornshøj, Henrik ; Hess, Julian M ; Juul, Randi Istrup ; Lin, Ziao ; Feuerbach, Lars ; Sabarinathan, Radhakrishnan ; Madsen, Tobias ; Kim, Jaegil ; Mularoni, Loris ; Shuai, Shimin ; Lanzós, Andrés ; Herrmann, Carl ; Maruvka, Yosef E ; Shen, Ciyue ; Amin, Samirkumar B ; Bandopadhayay, Pratiti ; Bertl, Johanna ; Boroevich, Keith A ; Busanovich, John ; Carlevaro-Fita, Joana ; Chakravarty, Dimple ; Chan, Calvin Wing Yiu ; Craft, David ; Dhingra, Priyanka ; Diamanti, Klev ; Fonseca, Nuno A ; Gonzalez-Perez, Abel ; Guo, Qianyun ; Hamilton, Mark P ; Haradhvala, Nicholas J ; Hong, Chen ; Isaev, Keren ; Johnson, Todd A ; Juul, Malene ; Kahles, Andre ; Kahraman, Abdullah ; Kim, Youngwook ; Komorowski, Jan ; Kumar, Kiran ; Kumar, Sushant ; Lee, Donghoon ; Lehmann, Kjong-Van ; Li, Yilong ; Liu, Eric Minwei ; Lochovsky, Lucas ; Park, Keunchil ; Pich, Oriol ; Roberts, Nicola D ; Saksena, Gordon ; Schumacher, Steven E ; Sidiropoulos, Nikos ; Sieverling, Lina ; Sinnott-Armstrong, Nasa ; Stewart, Chip ; Tamborero, David ; Tubio, Jose M C ; Umer, Husen M ; Uusküla-Reimand, Liis ; Wadelius, Claes ; Wadi, Lina ; Yao, Xiaotong ; Zhang, Cheng-Zhong ; Zhang, Jing ; Haber, James E ; Hobolth, Asger ; Imielinski, Marcin ; Kellis, Manolis ; Lawrence, Michael S ; von Mering, Christian ; Nakagawa, Hidewaki ; Raphael, Benjamin J ; Rubin, Mark A ; Sander, Chris ; Stein, Lincoln D ; Stuart, Joshua M ; Tsunoda, Tatsuhiko ; Wheeler, David A ; Johnson, Rory ; Reimand, Jüri ; Gerstein, Mark ; Khurana, Ekta ; Campbell, Peter J ; López-Bigas, Núria ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Martincorena, Iñigo ; Pedersen, Jakob Skou ; Getz, Gad

Nature (London), 2020-02, Vol.578 (7793), p.102-111 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Whole genomes redefine the mutational landscape of pancreatic cancer
Whole genomes redefine the mutational landscape of pancreatic cancer
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Whole genomes redefine the mutational landscape of pancreatic cancer

Waddell, Nicola ; Pajic, Marina ; Patch, Ann-Marie ; Chang, David K ; Kassahn, Karin S ; Bailey, Peter ; Johns, Amber L ; Miller, David ; Nones, Katia ; Quek, Kelly ; Quinn, Michael C J ; Robertson, Alan J ; Fadlullah, Muhammad Z H ; Bruxner, Tim J C ; Christ, Angelika N ; Harliwong, Ivon ; Idrisoglu, Senel ; Manning, Suzanne ; Nourse, Craig ; Nourbakhsh, Ehsan ; Wani, Shivangi ; Wilson, Peter J ; Markham, Emma ; Cloonan, Nicole ; Anderson, Matthew J ; Fink, J Lynn ; Holmes, Oliver ; Kazakoff, Stephen H ; Leonard, Conrad ; Newell, Felicity ; Poudel, Barsha ; Song, Sarah ; Taylor, Darrin ; Waddell, Nick ; Wood, Scott ; Xu, Qinying ; Wu, Jianmin ; Pinese, Mark ; Cowley, Mark J ; Lee, Hong C ; Jones, Marc D ; Nagrial, Adnan M ; Humphris, Jeremy ; Chantrill, Lorraine A ; Chin, Venessa ; Steinmann, Angela M ; Mawson, Amanda ; Humphrey, Emily S ; Colvin, Emily K ; Chou, Angela ; Scarlett, Christopher J ; Pinho, Andreia V ; Giry-Laterriere, Marc ; Rooman, Ilse ; Samra, Jaswinder S ; Kench, James G ; Pettitt, Jessica A ; Merrett, Neil D ; Toon, Christopher ; Epari, Krishna ; Nguyen, Nam Q ; Barbour, Andrew ; Zeps, Nikolajs ; Jamieson, Nigel B ; Graham, Janet S ; Niclou, Simone P ; Bjerkvig, Rolf ; Grützmann, Robert ; Aust, Daniela ; Hruban, Ralph H ; Maitra, Anirban ; Iacobuzio-Donahue, Christine A ; Wolfgang, Christopher L ; Morgan, Richard A ; Lawlor, Rita T ; Corbo, Vincenzo ; Bassi, Claudio ; Falconi, Massimo ; Zamboni, Giuseppe ; Tortora, Giampaolo ; Tempero, Margaret A ; Gill, Anthony J ; Eshleman, James R ; Pilarsky, Christian ; Scarpa, Aldo ; Musgrove, Elizabeth A ; Pearson, John V ; Biankin, Andrew V ; Grimmond, Sean M

Nature (London), 2015-02, Vol.518 (7540), p.495-501 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Evaluating drug targets through human loss-of-function genetic variation
Evaluating drug targets through human loss-of-function genetic variation
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Evaluating drug targets through human loss-of-function genetic variation

Minikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C ; Cummings, Beryl B ; Whiffin, Nicola ; Rhodes, Daniel ; Alföldi, Jessica ; Trembath, Richard C ; van Heel, David A ; Daly, Mark J ; Schreiber, Stuart L ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
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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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8
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma
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Landscape of somatic mutations and clonal evolution in mantle cell lymphoma

Beà, Sílvia ; Valdés-Mas, Rafael ; Navarro, Alba ; Salaverria, Itziar ; Martín-Garcia, David ; Jares, Pedro ; Giné, Eva ; Pinyol, Magda ; Royo, Cristina ; Nadeu, Ferran ; Conde, Laura ; Juan, Manel ; Clot, Guillem ; Vizán, Pedro ; Di Croce, Luciano ; Puente, Diana A. ; López-Guerra, Mónica ; Moros, Alexandra ; Roue, Gael ; Aymerich, Marta ; Villamor, Neus ; Colomo, Lluís ; Martínez, Antonio ; Valera, Alexandra ; Martín-Subero, José I. ; Amador, Virginia ; Hernández, Luis ; Rozman, Maria ; Enjuanes, Anna ; Forcada, Pilar ; Muntañola, Ana ; Hartmann, Elena M. ; Calasanz, María J. ; Rosenwald, Andreas ; Ott, German ; Hernández-Rivas, Jesús M. ; Klapper, Wolfram ; Siebert, Reiner ; Wiestner, Adrian ; Wilson, Wyndham H. ; Colomer, Dolors ; López-Guillermo, Armando ; López-Otín, Carlos ; Puente, Xose S. ; Campo, Elías

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (45), p.18250-18255 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Mutations of optineurin in amyotrophic lateral sclerosis
Mutations of optineurin in amyotrophic lateral sclerosis
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Mutations of optineurin in amyotrophic lateral sclerosis

Kawakami, Hideshi ; Kawata, Akihiro ; Maruyama, Hirofumi ; Nodera, Hiroyuki ; Komure, Osamu ; Abe, Koji ; Ito, Hidefumi ; Hirano, Asao ; Kinoshita, Yoshimi ; Kato, Hidemasa ; Hagiwara, Koichi ; Watanabe, Yasuhito ; Ogasawara, Kazumasa ; Hirai, Takeshi ; Takumi, Toru ; Kato, Takeo ; Morimoto, Nobutoshi ; Morino, Hiroyuki ; Kamada, Masaki ; Kobatake, Keitaro ; Suzuki, Naoki ; Aoki, Masashi ; Izumi, Yuishin ; Matsuura, Shinya ; Kaji, Ryuji ; Suzuki, Hidenori ; Kusaka, Hirofumi

Nature (London), 2010-05, Vol.465 (7295), p.223-226 [Periódico revisado por pares]

London: Nature Publishing Group

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10
Divergence of duplicate genes in exon–intron structure
Divergence of duplicate genes in exon–intron structure
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Divergence of duplicate genes in exon–intron structure

Xu, Guixia ; Guo, Chunce ; Shan, Hongyan ; Kong, Hongzhi

Proceedings of the National Academy of Sciences - PNAS, 2012-01, Vol.109 (4), p.1187-1192 [Periódico revisado por pares]

United States: National Academy of Sciences

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Deste Autor:

  1. Federico, M
  2. Escobar, K

Neste Assunto:

  1. Genes
  2. Genes
  3. Science & Technology
  4. Mutation
  5. Life Sciences & Biomedicine

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

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