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1 |
Material Type: Artigo
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Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputationWood, Andrew R ; Perry, John R B ; Tanaka, Toshiko ; Hernandez, Dena G ; Zheng, Hou-Feng ; Melzer, David ; Gibbs, J Raphael ; Nalls, Michael A ; Weedon, Michael N ; Spector, Tim D ; Richards, J Brent ; Bandinelli, Stefania ; Ferrucci, Luigi ; Singleton, Andrew B ; Frayling, Timothy M Arking, Dan E.PloS one, 2013-05, Vol.8 (5), p.e64343-e64343 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degenerationSpencer, Kylee L ; Olson, Lana M ; Schnetz-Boutaud, Nathalie ; Gallins, Paul ; Agarwal, Anita ; Iannaccone, Alessandro ; Kritchevsky, Stephen B ; Garcia, Melissa ; Nalls, Michael A ; Newman, Anne B ; Scott, William K ; Pericak-Vance, Margaret A ; Haines, Jonathan L Toland, AmandaPloS one, 2011-03, Vol.6 (3), p.e17784-e17784 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Genetic variability in CLU and its association with Alzheimer's diseaseGuerreiro, Rita J ; Beck, John ; Gibbs, J Raphael ; Santana, Isabel ; Rossor, Martin N ; Schott, Jonathan M ; Nalls, Michael A ; Ribeiro, Helena ; Santiago, Beatriz ; Fox, Nick C ; Oliveira, Catarina ; Collinge, John ; Mead, Simon ; Singleton, Andrew ; Hardy, John Weedon, Michael NicholasPloS one, 2010-03, Vol.5 (3), p.e9510-e9510 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisJohnson, Janel O ; Pioro, Erik P ; Boehringer, Ashley ; Chia, Ruth ; Feit, Howard ; Renton, Alan E ; Pliner, Hannah A ; Abramzon, Yevgeniya ; Marangi, Giuseppe ; Winborn, Brett J ; Gibbs, J Raphael ; Nalls, Michael A ; Morgan, Sarah ; Shoai, Maryam ; Hardy, John ; Pittman, Alan ; Orrell, Richard W ; Malaspina, Andrea ; Sidle, Katie C ; Fratta, Pietro ; Harms, Matthew B ; Baloh, Robert H ; Pestronk, Alan ; Weihl, Conrad C ; Rogaeva, Ekaterina ; Zinman, Lorne ; Drory, Vivian E ; Borghero, Giuseppe ; Mora, Gabriele ; Calvo, Andrea ; Rothstein, Jeffrey D ; Drepper, Carsten ; Sendtner, Michael ; Singleton, Andrew B ; Taylor, J Paul ; Cookson, Mark R ; Restagno, Gabriella ; Sabatelli, Mario ; Bowser, Robert ; Chiò, Adriano ; Traynor, Bryan JNature neuroscience, 2014-05, Vol.17 (5), p.664-666 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy BodiesNalls, Michael A ; Duran, Raquel ; Lopez, Grisel ; Kurzawa-Akanbi, Marzena ; McKeith, Ian G ; Chinnery, Patrick F ; Morris, Christopher M ; Theuns, Jessie ; Crosiers, David ; Cras, Patrick ; Engelborghs, Sebastiaan ; De Deyn, Peter Paul ; Van Broeckhoven, Christine ; Mann, David M. A ; Snowden, Julie ; Pickering-Brown, Stuart ; Halliwell, Nicola ; Davidson, Yvonne ; Gibbons, Linda ; Harris, Jenny ; Sheerin, Una-Marie ; Bras, Jose ; Hardy, John ; Clark, Lorraine ; Marder, Karen ; Honig, Lawrence S ; Berg, Daniela ; Maetzler, Walter ; Brockmann, Kathrin ; Gasser, Thomas ; Novellino, Fabiana ; Quattrone, Aldo ; Annesi, Grazia ; De Marco, Elvira Valeria ; Rogaeva, Ekaterina ; Masellis, Mario ; Black, Sandra E ; Bilbao, Juan M ; Foroud, Tatiana ; Ghetti, Bernardino ; Nichols, William C ; Pankratz, Nathan ; Halliday, Glenda ; Lesage, Suzanne ; Klebe, Stephan ; Durr, Alexandra ; Duyckaerts, Charles ; Brice, Alexis ; Giasson, Benoit I ; Trojanowski, John Q ; Hurtig, Howard I ; Tayebi, Nahid ; Landazabal, Claudia ; Knight, Melanie A ; Keller, Margaux ; Singleton, Andrew B ; Wolfsberg, Tyra G ; Sidransky, EllenJAMA neurology, 2013-06, Vol.70 (6), p.727-735 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines geneReich, David ; Nalls, Michael A ; Kao, W H Linda ; Akylbekova, Ermeg L ; Tandon, Arti ; Patterson, Nick ; Mullikin, James ; Hsueh, Wen-Chi ; Cheng, Ching-Yu ; Coresh, Josef ; Boerwinkle, Eric ; Li, Man ; Waliszewska, Alicja ; Neubauer, Julie ; Li, Rongling ; Leak, Tennille S ; Ekunwe, Lynette ; Files, Joe C ; Hardy, Cheryl L ; Zmuda, Joseph M ; Taylor, Herman A ; Ziv, Elad ; Harris, Tamara B ; Wilson, James G Visscher, Peter M.PLoS genetics, 2009-01, Vol.5 (1), p.e1000360-e1000360 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Genetic Ancestry in Lung-Function PredictionsKumar, Rajesh ; Seibold, Max A ; Aldrich, Melinda C ; Williams, L. Keoki ; Reiner, Alex P ; Colangelo, Laura ; Galanter, Joshua ; Gignoux, Christopher ; Hu, Donglei ; Sen, Saunak ; Choudhry, Shweta ; Peterson, Edward L ; Rodriguez-Santana, Jose ; Rodriguez-Cintron, William ; Nalls, Michael A ; Leak, Tennille S ; O'Meara, Ellen ; Meibohm, Bernd ; Kritchevsky, Stephen B ; Li, Rongling ; Harris, Tamara B ; Nickerson, Deborah A ; Fornage, Myriam ; Enright, Paul ; Ziv, Elad ; Smith, Lewis J ; Liu, Kiang ; Burchard, Esteban GonzálezThe New England journal of medicine, 2010-07, Vol.363 (4), p.321-330 [Periódico revisado por pares]Waltham, MA: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic RiskMoskvina, Valentina ; Harold, Denise ; Russo, GianCarlo ; Vedernikov, Alexey ; Sharma, Manu ; Saad, Mohamad ; Holmans, Peter ; Bras, Jose M ; Bettella, Francesco ; Keller, Margaux F ; Nicolaou, Nayia ; Simón-Sánchez, Javier ; Gibbs, J. Raphael ; Schulte, Claudia ; Durr, Alexandra ; Guerreiro, Rita ; Hernandez, Dena ; Brice, Alexis ; Stefánsson, Hreinn ; Majamaa, Kari ; Gasser, Thomas ; Heutink, Peter ; Wood, Nick ; Martinez, Maria ; Singleton, Andrew B ; Nalls, Michael A ; Hardy, John ; Owen, Michael J ; O’Donovan, Michael C ; Williams, Julie ; Morris, Huw R ; Williams, Nigel MJAMA neurology, 2013-10, Vol.70 (10), p.1268-1276 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Common Variants Within Oxidative Phosphorylation Genes Influence Risk of Ischemic Stroke and Intracerebral HemorrhageANDERSON, Christopher D ; BIFFI, Alessandro ; VISWANATHAN, Anand ; WORRALL, Bradford B ; BROTT, Thomas G ; GOLDSTEIN, Joshua N ; BROWN, Devin ; BRODERICK, Joseph P ; NORRVING, Bo ; GREENBERG, Steven M ; SILLIMAN, Scott L ; HANSEN, Björn M ; NALLS, Michael A ; TIRSCHWELL, David L ; LINDGREN, Arne ; SLOWIK, Agnieszka ; SCHMIDT, Reinhold ; SELIM, Magdy ; ROQUER, Jaume ; MONTANER, Joan ; SINGLETON, Andrew B ; KIDWELL, Chelsea S ; WOO, Daniel ; DEVAN, William J ; FURIE, Karen L ; MESCHIA, James F ; ROSAND, Jonathan ; SCHWAB, Kristin ; AYRES, Alison M ; VALANT, Valerie ; ROSS, Owen A ; ROST, Natalia S ; SAXENA, RichaStroke (1970), 2013-03, Vol.44 (3), p.612-619 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderlyTranah, Gregory J ; Nalls, Michael A ; Katzman, Shana M ; Yokoyama, Jennifer S ; Lam, Ernest T ; Zhao, Yiqiang ; Mooney, Sean ; Thomas, Fridtjof ; Newman, Anne B ; Liu, Yongmei ; Cummings, Steven R ; Harris, Tamara B ; Yaffe, KristineJournal of Alzheimer's disease, 2012-01, Vol.32 (2), p.357-372 [Periódico revisado por pares]NetherlandsTexto completo disponível |