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Material Type: Artigo
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Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypesFan, Chun Chieh ; Schork, Andrew J ; Brown, Timothy T ; Spencer, Barbara E ; Akshoomoff, Natacha ; Chen, Chi-Hua ; Kuperman, Joshua M ; Hagler, Jr, Donald J ; Steen, Vidar M ; Le Hellard, Stephanie ; Håberg, Asta Kristine ; Espeseth, Thomas ; Andreassen, Ole A ; Dale, Anders M ; Jernigan, Terry L ; Halgren, EricTranslational psychiatry, 2018-06, Vol.8 (1), p.114-8, Article 114 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genetic Associations Between Modifiable Risk Factors and Alzheimer DiseaseLuo, Jiao ; Thomassen, Jesper Qvist ; Bellenguez, Céline ; Grenier-Boley, Benjamin ; de Rojas, Itziar ; Castillo, Atahualpa ; Parveen, Kayenat ; Küçükali, Fahri ; Nicolas, Aude ; Peters, Oliver ; Schneider, Anja ; Dichgans, Martin ; Rujescu, Dan ; Scherbaum, Norbert ; Jürgen, Deckert ; Riedel-Heller, Steffi ; Hausner, Lucrezia ; Porcel, Laura Molina ; Düzel, Emrah ; Grimmer, Timo ; Wiltfang, Jens ; Heilmann-Heimbach, Stefanie ; Moebus, Susanne ; Tegos, Thomas ; Scarmeas, Nikolaos ; Clarimon, Jordi ; Moreno, Fermin ; Pérez-Tur, Jordi ; Bullido, María J ; Pastor, Pau ; Sánchez-Valle, Raquel ; Álvarez, Victoria ; Boada, Mercè ; García-González, Pablo ; Puerta, Raquel ; Mir, Pablo ; Real, Luis M ; Piñol-Ripoll, Gerard ; García-Alberca, Jose María ; Royo, Jose Luís ; Rodriguez-Rodriguez, Eloy ; Soininen, Hilkka ; Kuulasmaa, Teemu ; de Mendonça, Alexandre ; Mehrabian, Shima ; Hort, Jakub ; Vyhnalek, Martin ; van der Lee, Sven ; Graff, Caroline ; Papenberg, Goran ; Giedraitis, Vilmantas ; Boland, Anne ; Bacq-Daian, Delphine ; Deleuze, Jean-François ; Nicolas, Gael ; Dufouil, Carole ; Pasquier, Florence ; Hanon, Olivier ; Debette, Stéphanie ; Grünblatt, Edna ; Popp, Julius ; Benussi, Luisa ; Galimberti, Daniela ; Arosio, Beatrice ; Mecocci, Patrizia ; Solfrizzi, Vincenzo ; Parnetti, Lucilla ; Squassina, Alessio ; Tremolizzo, Lucio ; Borroni, Barbara ; Nacmias, Benedetta ; Sorbi, Sandro ; Caffarra, Paolo ; Seripa, Davide ; Rainero, Innocenzo ; Daniele, Antonio ; Masullo, Carlo ; Spalletta, Gianfranco ; Williams, Julie ; Amouyel, Philippe ; Jessen, Frank ; Kehoe, Patrick ; Tsolaki, Magda ; Rossi, Giacomina ; Sánchez-Juan, Pascual ; Sleegers, Kristel ; Ingelsson, Martin ; Andreassen, Ole A ; Hiltunen, Mikko ; Van Duijn, Cornelia ; Sims, Rebecca ; van der Flier, Wiesje ; Ruiz, Agustín ; Ramirez, Alfredo ; Lambert, Jean-Charles ; Frikke-Schmidt, RuthJAMA network open, 2023-05, Vol.6 (5), p.e2313734 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation studyTrajanoska, Katerina ; Morris, John A ; Oei, Ling ; Zheng, Hou-Feng ; Evans, David M ; Kiel, Douglas P ; Ohlsson, Claes ; Richards, J Brent ; Rivadeneira, FernandoBMJ (Online), 2018-08, Vol.362, p.k3225 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseDominguez-Valentin, Mev ; Sampson, Julian R ; Seppälä, Toni T ; ten Broeke, Sanne W ; Plazzer, John-Paul ; Nakken, Sigve ; Engel, Christoph ; Aretz, Stefan ; Jenkins, Mark A ; Sunde, Lone ; Bernstein, Inge ; Capella, Gabriel ; Balaguer, Francesc ; Thomas, Huw ; Evans, D. Gareth ; Burn, John ; Greenblatt, Marc ; Hovig, Eivind ; de Vos tot Nederveen Cappel, Wouter H ; Sijmons, Rolf H ; Bertario, Lucio ; Tibiletti, Maria Grazia ; Cavestro, Giulia Martina ; Lindblom, Annika ; Della Valle, Adriana ; López-Köstner, Francisco ; Gluck, Nathan ; Katz, Lior H ; Heinimann, Karl ; Vaccaro, Carlos A ; Büttner, Reinhard ; Görgens, Heike ; Holinski-Feder, Elke ; Morak, Monika ; Holzapfel, Stefanie ; Hüneburg, Robert ; von Knebel Doeberitz, Magnus ; Loeffler, Markus ; Rahner, Nils ; Schackert, Hans K ; Steinke-Lange, Verena ; Schmiegel, Wolff ; Vangala, Deepak ; Pylvänäinen, Kirsi ; Renkonen-Sinisalo, Laura ; Hopper, John L ; Win, Aung Ko ; Haile, Robert W ; Lindor, Noralane M ; Gallinger, Steven ; Le Marchand, Loïc ; Newcomb, Polly A ; Figueiredo, Jane C ; Thibodeau, Stephen N ; Wadt, Karin ; Therkildsen, Christina ; Okkels, Henrik ; Ketabi, Zohreh ; Moreira, Leticia ; Sánchez, Ariadna ; Serra-Burriel, Miquel ; Pineda, Marta ; Navarro, Matilde ; Blanco, Ignacio ; Green, Kate ; Lalloo, Fiona ; Crosbie, Emma J ; Hill, James ; Denton, Oliver G ; Frayling, Ian M ; Rødland, Einar Andreas ; Vasen, Hans ; Mints, Miriam ; Neffa, Florencia ; Esperon, Patricia ; Alvarez, Karin ; Kariv, Revital ; Rosner, Guy ; Pinero, Tamara Alejandra ; Gonzalez, Maria Laura ; Kalfayan, Pablo ; Tjandra, Douglas ; Winship, Ingrid M ; Macrae, Finlay ; Möslein, Gabriela ; Mecklin, Jukka-Pekka ; Nielsen, Maartje ; Møller, PålGenetics in medicine, 2020-01 [Periódico revisado por pares]Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX MutationsCasar-Borota, Olivera ; Boldt, Henning Bünsow ; Engström, Britt Edén ; Andersen, Marianne Skovsager ; Baussart, Bertrand ; Bengtsson, Daniel ; Berinder, Katarina ; Ekman, Bertil ; Feldt-Rasmussen, Ulla ; Höybye, Charlotte ; Jørgensen, Jens Otto L ; Kolnes, Anders Jensen ; Korbonits, Márta ; Rasmussen, Åse Krogh ; Lindsay, John R ; Loughrey, Paul Benjamin ; Maiter, Dominique ; Manojlovic-Gacic, Emilija ; Pahnke, Jens ; Poliani, Pietro Luigi ; Popovic, Vera ; Ragnarsson, Oskar ; Schalin-Jäntti, Camilla ; Scheie, David ; Tóth, Miklós ; Villa, Chiara ; Wirenfeldt, Martin ; Kunicki, Jacek ; Burman, PiaThe journal of clinical endocrinology and metabolism, 2021-04, Vol.106 (4), p.1183-1194 [Periódico revisado por pares]US: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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C9orf72 , age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohortsCosta, Beatrice ; Manzoni, Claudia ; Bernal-Quiros, Manuel ; Kia, Demis A ; Aguilar, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Andreassen, Ole ; Anfossi, Maria ; Bagnoli, Silvia ; Benussi, Luisa ; Binetti, Giuliano ; Blackburn, Daniel ; Boada, Mercè ; Borroni, Barbara ; Bowns, Lucy ; Bråthen, Geir ; Bruni, Amalia C ; Chiang, Huei-Hsin ; Clarimon, Jordi ; Colville, Shuna ; Conidi, Maria E ; Cope, Tom E ; Cruchaga, Carlos ; Cupidi, Chiara ; Di Battista, Maria Elena ; Diez-Fairen, Monica ; Dols-Icardo, Oriol ; Durante, Elisabetta ; Flisar, Dušan ; Frangipane, Francesca ; Galimberti, Daniela ; Gallo, Maura ; Gallucci, Maurizio ; Ghidoni, Roberta ; Graff, Caroline ; Grafman, Jordan H ; Grossman, Murray ; Hardy, John ; Holloway, Guy J T ; Huey, Edward D ; Illán-Gala, Ignacio ; Karydas, Anna ; Khoshnood, Behzad ; Kramberger, Milica G ; Kristiansen, Mark ; Lewis, Patrick A ; Madhan, Gaganjit K ; Maletta, Raffaele ; Maver, Aleš ; Menendez-Gonzalez, Manuel ; Milan, Graziella ; Miller, Bruce ; Mol, Merel O ; Momeni, Parastoo ; Moreno-Grau, Sonia ; Morris, Chris M ; Nacmias, Benedetta ; Nilsson, Christer ; Novelli, Valeria ; Öijerstedt, Linn ; Padovani, Alessandro ; Pal, Suvankar ; Panchbhaya, Yasmin ; Pastor, Pau ; Peterlin, Borut ; Piaceri, Irene ; Pickering-Brown, Stuart ; Pijnenburg, Yolande A L ; Puca, Annibale A ; Rainero, Innocenzo ; Richardson, Anna M T ; Rogelj, Boris ; Rollinson, Sara ; Rossi, Giacomina ; Rossmeier, Carola ; Rowe, James B ; Rubino, Elisa ; Ruiz, Agustín ; Sanchez-Valle, Raquel ; Sando, Sigrid B ; Santillo, Alexander F ; Saxon, Jennifer ; Scarpini, Elio ; Serpente, Maria ; Smirne, Nicoletta ; Sorbi, Sandro ; Suh, EunRan ; Tagliavini, Fabrizio ; Thompson, Jennifer C ; Trojanowski, John Q ; Van Deerlin, Vivianna M ; Van Broeckhoven, Christine ; van Rooij, Jeroen ; Van Swieten, John C ; Waldö, Maria L ; Yokoyama, Jennifer ; Escott-Price, Valentina ; Polke, James M ; Ferrari, RaffaeleNeurology, 2020-12, Vol.95 (24), p.e3288-e3302 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adultsHofer, Edith ; Roshchupkin, Gennady V ; Adams, Hieab H H ; Knol, Maria J ; Lin, Honghuang ; Li, Shuo ; Zare, Habil ; Ahmad, Shahzad ; Armstrong, Nicola J ; Satizabal, Claudia L ; Bernard, Manon ; Bis, Joshua C ; Gillespie, Nathan A ; Luciano, Michelle ; Mishra, Aniket ; Scholz, Markus ; Teumer, Alexander ; Xia, Rui ; Jian, Xueqiu ; Mosley, Thomas H ; Saba, Yasaman ; Pirpamer, Lukas ; Seiler, Stephan ; Becker, James T ; Carmichael, Owen ; Rotter, Jerome I ; Psaty, Bruce M ; Lopez, Oscar L ; Amin, Najaf ; van der Lee, Sven J ; Yang, Qiong ; Himali, Jayandra J ; Maillard, Pauline ; Beiser, Alexa S ; DeCarli, Charles ; Karama, Sherif ; Lewis, Lindsay ; Harris, Mat ; Bastin, Mark E ; Deary, Ian J ; Veronica Witte, A ; Beyer, Frauke ; Loeffler, Markus ; Mather, Karen A ; Schofield, Peter R ; Thalamuthu, Anbupalam ; Kwok, John B ; Wright, Margaret J ; Ames, David ; Trollor, Julian ; Jiang, Jiyang ; Brodaty, Henry ; Wen, Wei ; Vernooij, Meike W ; Hofman, Albert ; Uitterlinden, André G ; Niessen, Wiro J ; Wittfeld, Katharina ; Bülow, Robin ; Völker, Uwe ; Pausova, Zdenka ; Bruce Pike, G ; Maingault, Sophie ; Crivello, Fabrice ; Tzourio, Christophe ; Amouyel, Philippe ; Mazoyer, Bernard ; Neale, Michael C ; Franz, Carol E ; Lyons, Michael J ; Panizzon, Matthew S ; Andreassen, Ole A ; Dale, Anders M ; Logue, Mark ; Grasby, Katrina L ; Jahanshad, Neda ; Painter, Jodie N ; Colodro-Conde, Lucía ; Bralten, Janita ; Hibar, Derrek P ; Lind, Penelope A ; Pizzagalli, Fabrizio ; Stein, Jason L ; Thompson, Paul M ; Medland, Sarah E ; Sachdev, Perminder S ; Kremen, William S ; Wardlaw, Joanna M ; Villringer, Arno ; van Duijn, Cornelia M ; Grabe, Hans J ; Longstreth, Jr, William T ; Fornage, Myriam ; Paus, Tomas ; Debette, Stephanie ; Ikram, M Arfan ; Schmidt, Helena ; Schmidt, Reinhold ; Seshadri, SudhaNature communications, 2020-09, Vol.11 (1), p.4796-16, Article 4796 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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An exploratory study examining the relationship between performance status and systemic inflammation frameworks and cytokine profiles in patients with advanced cancerDolan, Ross D ; Laird, Barry J A ; Klepstad, Pål ; Kaasa, Stein ; Horgan, Paul G ; Paulsen, Ørnulf ; McMillan, Donald CMedicine (Baltimore), 2019-09, Vol.98 (37), p.e17019-e17019 [Periódico revisado por pares]United States: Wolters Kluwer HealthTexto completo disponível |
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Material Type: Artigo
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Cytokine release and gastrointestinal symptoms after gluten challenge in celiac diseaseGoel, Gautam ; Tye-Din, Jason A ; Qiao, Shuo-Wang ; Russell, Amy K ; Mayassi, Toufic ; Ciszewski, Cezary ; Sarna, Vikas K ; Wang, Suyue ; Goldstein, Kaela E ; Dzuris, John L ; Williams, Leslie J ; Xavier, Ramnik J ; Lundin, Knut E A ; Jabri, Bana ; Sollid, Ludvig M ; Anderson, Robert PScience advances, 2019-08, Vol.5 (8), p.eaaw7756-eaaw7756 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Ten months of temporal variation in the clinical journey of hospitalised patients with COVID-19: An observational cohortHall, Matthew D ; Baruch, Joaquín ; Carson, Gail ; Citarella, Barbara Wanjiru ; Dagens, Andrew ; Dankwa, Emmanuelle A ; Donnelly, Christl A ; Dunning, Jake ; Escher, Martina ; Kartsonaki, Christiana ; Merson, Laura ; Pritchard, Mark ; Wei, Jia ; Horby, Peter W ; Rojek, Amanda ; Olliaro, Piero LeLife, 2021-11, Vol.10 [Periódico revisado por pares]England: eLife Sciences Publications LtdTexto completo disponível |