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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

He, Xin ; Sanders, Stephan J ; Liu, Li ; De Rubeis, Silvia ; Lim, Elaine T ; Sutcliffe, James S ; Schellenberg, Gerard D ; Gibbs, Richard A ; Daly, Mark J ; Buxbaum, Joseph D ; State, Matthew W ; Devlin, Bernie ; Roeder, Kathryn Williams, Scott M.

PLoS genetics, 2013-08, Vol.9 (8), p.e1003671-e1003671 [Periódico revisado por pares]

United States: Public Library of Science

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2
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Pinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Vorstman, Jacob A.S. ; Thompson, Ann ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T. ; Oliveira, Bárbara ; Magalhaes, Tiago R. ; Lowe, Jennifer K. ; Howe, Jennifer L. ; Gilbert, John ; Duketis, Eftichia ; Dombroski, Beth A. ; Cuccaro, Michael ; Crawford, Emily L. ; Correia, Catarina T. ; Conroy, Judith ; Conceição, Inês C. ; Chiocchetti, Andreas G. ; Casey, Jillian P. ; Cai, Guiqing ; Cabrol, Christelle ; Bacchelli, Elena ; Gallinger, Steven ; Cotterchio, Michelle ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; van Engeland, Herman ; Tryfon, Ana ; Thomson, Susanne ; Rogé, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy ; McInnes, L. Alison ; McGrew, Susan G. ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann S. ; Kolevzon, Alexander ; Jiménez González, Patricia ; Jacob, Suma ; Holt, Richard ; Guter, Stephen ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F. ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J. ; Almeida, Joana ; Wijsman, Ellen M. ; Vieland, Veronica J. ; Vicente, Astrid M. ; Schellenberg, Gerard D. ; Pericak-Vance, Margaret ; Paterson, Andrew D. ; Parr, Jeremy R. ; Oliveira, Guiomar ; Nurnberger, John I. ; Monaco, Anthony P. ; Maestrini, Elena ; Klauck, Sabine M. ; Hakonarson, Hakon ; Haines, Jonathan L. ; Geschwind, Daniel H. ; Freitag, Christine M. ; Folstein, Susan E. ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S. ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W.

American journal of human genetics, 2014-05, Vol.94 (5), p.677-694 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study
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Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Reiman, Eric M ; Arboleda-Velasquez, Joseph F ; Quiroz, Yakeel T ; Huentelman, Matthew J ; Beach, Thomas G ; Caselli, Richard J ; Chen, Yinghua ; Su, Yi ; Myers, Amanda J ; Hardy, John ; Paul Vonsattel, Jean ; Younkin, Steven G ; Bennett, David A ; De Jager, Philip L ; Larson, Eric B ; Crane, Paul K ; Keene, C Dirk ; Kamboh, M Ilyas ; Kofler, Julia K ; Duque, Linda ; Gilbert, John R ; Gwirtsman, Harry E ; Buxbaum, Joseph D ; Dickson, Dennis W ; Frosch, Matthew P ; Ghetti, Bernardino F ; Lunetta, Kathryn L ; Wang, Li-San ; Hyman, Bradley T ; Kukull, Walter A ; Foroud, Tatiana ; Haines, Jonathan L ; Mayeux, Richard P ; Pericak-Vance, Margaret A ; Schneider, Julie A ; Trojanowski, John Q ; Farrer, Lindsay A ; Schellenberg, Gerard D ; Beecham, Gary W ; Montine, Thomas J ; Jun, Gyungah R

Nature communications, 2020-02, Vol.11 (1), p.667-667, Article 667 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease
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Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Escott-Price, Valentina ; Harold, Denise ; Jones, Lesley ; Gerrish, Amy ; Vedernikov, Alexey ; DeStefano, Anita L ; Ibrahim-Verbaas, Carla A ; Bis, Joshua C ; Grenier-Boley, Benjamin ; Russo, Giancarlo ; Smith, Albert V ; Chouraki, Vincent ; Thomas, Charlene ; Zelenika, Diana ; Kamatani, Yoichiro ; Lin, Chiao-Feng ; Dunstan, Melanie L ; Vronskaya, Maria ; Ruiz, Agustin ; Bihoreau, Marie-Thérèse ; Reitz, Christiane ; Pasquier, Florence ; Hollingworth, Paul ; Hanon, Olivier ; Fitzpatrick, Annette L ; Becker, Tim ; Gudnason, Vilmundur ; Amin, Najaf ; De Jager, Philip L ; Johnston, Janet A ; Evans, Denis ; Hernández, Isabel ; Goate, Alison M ; Fiévet, Nathalie ; Kamboh, M Ilyas ; Keller, Lina ; McGuinness, Bernadette ; Wallon, David ; Love, Seth ; Gallacher, John ; George-Hyslop, Peter St ; Lleo, Alberto ; Bayer, Anthony ; Tsuang, Debby W ; Yu, Lei ; Spalletta, Gianfranco ; Proitsi, Petra ; Sorbi, Sandro ; Garcia, Florentino Sanchez ; Fox, Nick C ; Naranjo, Maria Candida Deniz ; Bosco, Paolo ; Clarke, Robert ; Brayne, Carol ; Bonuccelli, Ubaldo ; Mancuso, Michelangelo ; Moebus, Susanne ; Zompo, Maria Del ; Maier, Wolfgang ; Panza, Francesco ; Caffarra, Paolo ; Perry, William ; Mayhaus, Manuel ; Lannfelt, Lars ; Pichler, Sabrina ; Carrasquillo, Minerva M ; Alvarez, Victoria ; Valladares, Otto ; Hamilton-Nelson, Kara L ; Pastor, Pau ; Owen, Michael J ; Faber, Kelley M ; Jonsson, Palmi V ; O'Donovan, Michael C ; Cantwell, Laura B ; Blacker, Deborah ; Mead, Simon ; Mosley, Jr, Thomas H ; de Bruijn, Renee F A G ; Passmore, Peter ; Brice, Alexis ; Morgan, Kevin ; Foroud, Tatiana M ; Kukull, Walter A ; Hannequin, Didier ; Powell, John F ; Nalls, Michael A ; Ritchie, Karen ; Kauwe, John S K ; Riemenschneider, Matthias ; Boada, Mercè ; Martin, Eden R ; Rujescu, Dan ; Tzourio, Christophe ; Hofman, Albert ; Graff, Caroline ; Launer, Lenore J ; Van Broeckhoven, Christine ; van Duijn, Cornelia M ; Seshadri, Sudha Yao, Yong-Gang

PloS one, 2014-06, Vol.9 (6), p.e94661-e94661 [Periódico revisado por pares]

United States: Public Library of Science

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5
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
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common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, Patrícia B. S ; Violante, Sara ; Crawford, Emily L ; Luo, Rui ; Lionel, Anath C ; Delaby, Elsa ; Cai, Guiqing ; Sadikovic, Bekim ; Lee, Kwanghyuk ; Lo, Charlene ; Gao, Kun ; Person, Richard E ; Moss, Timothy J ; German, Jennifer R ; Huang, Ni ; Shinawi, Marwan ; Treadwell-Deering, Diane ; Szatmari, Peter ; Roberts, Wendy ; Fernandez, Bridget ; Schroer, Richard J ; Stevenson, Roger E ; Buxbaum, Joseph D ; Betancur, Catalina ; Scherer, Stephen W ; Sanders, Stephan J ; Geschwind, Daniel H ; Sutcliffe, James S ; Hurles, Matthew E ; Wanders, Ronald J. A ; Shaw, Chad A ; Leal, Suzanne M ; Cook, Edwin H. Jr ; Goin-Kochel, Robin P ; Vaz, Frédéric M ; Beaudet, Arthur L

Proceedings of the National Academy of Sciences - PNAS, 2012-05, Vol.109 (21), p.7974-7981 [Periódico revisado por pares]

United States: National Academy of Sciences

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6
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

Liu, Li ; Sabo, Aniko ; Neale, Benjamin M ; Nagaswamy, Uma ; Stevens, Christine ; Lim, Elaine ; Bodea, Corneliu A ; Muzny, Donna ; Reid, Jeffrey G ; Banks, Eric ; Coon, Hillary ; Depristo, Mark ; Dinh, Huyen ; Fennel, Tim ; Flannick, Jason ; Gabriel, Stacey ; Garimella, Kiran ; Gross, Shannon ; Hawes, Alicia ; Lewis, Lora ; Makarov, Vladimir ; Maguire, Jared ; Newsham, Irene ; Poplin, Ryan ; Ripke, Stephan ; Shakir, Khalid ; Samocha, Kaitlin E ; Wu, Yuanqing ; Boerwinkle, Eric ; Buxbaum, Joseph D ; Cook, Jr, Edwin H ; Devlin, Bernie ; Schellenberg, Gerard D ; Sutcliffe, James S ; Daly, Mark J ; Gibbs, Richard A ; Roeder, Kathryn Zeggini, Eleftheria

PLoS genetics, 2013-04, Vol.9 (4), p.e1003443-e1003443 [Periódico revisado por pares]

United States: Public Library of Science

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7
Two novel loci, COBL and SLC10A2 , for Alzheimer's disease in African Americans
Two novel loci, COBL and SLC10A2 , for Alzheimer's disease in African Americans
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Two novel loci, COBL and SLC10A2 , for Alzheimer's disease in African Americans

Mez, Jesse ; Chung, Jaeyoon ; Jun, Gyungah ; Kriegel, Joshua ; Bourlas, Alexandra P ; Sherva, Richard ; Logue, Mark W ; Barnes, Lisa L ; Bennett, David A ; Buxbaum, Joseph D ; Byrd, Goldie S ; Crane, Paul K ; Ertekin-Taner, Nilüfer ; Evans, Denis ; Fallin, M. Daniele ; Foroud, Tatiana ; Goate, Alison ; Graff-Radford, Neill R ; Hall, Kathleen S ; Kamboh, M. Ilyas ; Kukull, Walter A ; Larson, Eric B ; Manly, Jennifer J ; Haines, Jonathan L ; Mayeux, Richard ; Pericak-Vance, Margaret A ; Schellenberg, Gerard D ; Lunetta, Kathryn L ; Farrer, Lindsay A

Alzheimer's & dementia, 2017-02, Vol.13 (2), p.119-129 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

The Psychiatric Genomics Consortium, The Autism Spectrum Disorders Working Group Of ; Anney, Richard J L ; Ripke, Stephan ; Anttila, Verneri ; Grove, Jakob ; Holmans, Peter ; Huang, Hailiang ; Klei, Lambertus ; Lee, Phil H ; Medland, Sarah E ; Neale, Benjamin ; Robinson, Elise ; Weiss, Lauren A ; Zwaigenbaum, Lonnie ; Yu, Timothy W ; Wittemeyer, Kerstin ; Willsey, a Jeremy ; Wijsman, Ellen M ; Werge, Thomas ; Wassink, Thomas H ; Waltes, Regina ; Walsh, Christopher A ; Wallace, Simon ; Vorstman, Jacob a S ; Vieland, Veronica J ; Vicente, Astrid M ; Vanengeland, Herman ; Tsang, Kathryn ; Thompson, Ann P ; Szatmari, Peter ; Svantesson, Oscar ; Steinberg, Stacy ; Stefansson, Kari ; Stefansson, Hreinn ; State, Matthew W ; Soorya, Latha ; Silagadze, Teimuraz ; Scherer, Stephen W ; Schellenberg, Gerard D ; Sandin, Sven ; Sanders, Stephan J ; Saemundsen, Evald ; Rouleau, Guy A ; Rogé, Bernadette ; Roeder, Kathryn ; Roberts, Wendy ; Reichert, Jennifer ; Reichenberg, Abraham ; Rehnström, Karola ; Regan, Regina ; Poustka, Fritz ; Poultney, Christopher S ; Piven, Joseph ; Pinto, Dalila ; Pericak-Vance, Margaret A ; Pejovic-Milovancevic, Milica ; Pedersen, Marianne Giørtz ; Pedersen, Carsten Bøcker ; Paterson, Andrew D ; Parr, Jeremy R ; Pagnamenta, Alistair T ; Oliveira, Guiomar ; Nurnberger, John I ; Nordentoft, Merete ; Murtha, Michael T ; Mouga, Susana ; Mortensen, Preben Bo ; Mors, Ole ; Morrow, Eric M ; Moreno-De-Luca, Daniel ; Monaco, Anthony P ; Minshew, Nancy ; Merikangas, Alison ; Mcmahon, William M ; Mcgrew, Susan G ; Mattheisen, Manuel ; Martsenkovsky, Igor ; Martin, Donna M ; Mane, Shrikant M ; Magnusson, Pall ; Magalhaes, Tiago ; Maestrini, Elena ; Lowe, Jennifer K ; Lord, Catherine ; Levitt, Pat ; Martin, Christa Lese ; Ledbetter, David H ; Leboyer, Marion ; Lecouteur, Ann S ; Ladd-Acosta, Christine ; Kolevzon, Alexander ; Klauck, Sabine M ; Jacob, Suma ; Iliadou, Bozenna ; Hultman, Christina M ; Hougaard, David M ; Hertz-Picciotto, Irva ; Hendren, Robert ; Hansen, Christine Søholm ; Haines, Jonathan L

Molecular autism, 2017-05, Vol.8 (1), p.21-21, Article 21 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Convergent genetic and expression data implicate immunity in Alzheimer's disease
Convergent genetic and expression data implicate immunity in Alzheimer's disease
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Convergent genetic and expression data implicate immunity in Alzheimer's disease

Jones, Lesley ; Wang, Li-San ; Choi, Seung-Hoan ; Vedernikov, Alexey ; Escott-Price, Valentina ; Richards, Alexander ; Naj, Adam C. ; Sims, Rebecca ; Gerrish, Amy ; Jun, Gyungah ; Beecham, Gary W. ; Grenier-Boley, Benjamin ; Smith, Albert V. ; Chouraki, Vincent ; Thomas, Charlene ; Zelenika, Diana ; Vardarajan, Badri N. ; Kamatani, Yoichiro ; Bihoreau, Marie-Thérèse ; Reitz, Christiane ; Pasquier, Florence ; Hanon, Olivier ; Buxbaum, Joseph D. ; Campion, Dominique ; Crane, Paul K. ; Gudnason, Vilmundur ; Cruchaga, Carlos ; Craig, David ; Berr, Claudine ; Lopez, Oscar L. ; De Jager, Philip L. ; Deramecourt, Vincent ; Evans, Denis ; Tárraga, Lluís ; Sleegers, Kristel ; Gill, Michael ; Emilsson, Valur ; Keller, Lina ; Barberger-Gateau, Pascale ; McGuinness, Bernadette ; Larson, Eric B. ; Myers, Amanda J. ; Dufouil, Carole ; Todd, Stephen ; Love, Seth ; Kehoe, Pat ; Rogaeva, Ekaterina ; Gallacher, John ; Tsuang, Debby W. ; Yu, Lei ; Sorbi, Sandro ; Fox, Nick ; Hardy, John ; Deniz Naranjo, Maria Candida ; Clarke, Robert ; Mancuso, Michelangelo ; Mecocci, Patrizia ; del Zompo, Maria ; Maier, Wolfgang ; Pilotto, Alberto ; Bullido, Maria ; Caffarra, Paolo ; Gilbert, John R. ; Mayhaus, Manuel ; Lannfelt, Lars ; Pichler, Sabrina ; Ingelsson, Martin ; Beekly, Duane ; Valladares, Otto ; Coto, Eliecer ; Hamilton-Nelson, Kara L. ; Owen, Michael J. ; Faber, Kelley M. ; O'Donovan, Michael C. ; Soininen, Hilkka ; Mead, Simon ; de Bruijn, Renee F.A.G. ; Rotter, Jerome I. ; Brice, Alexis ; Morgan, Kevin ; Foroud, Tatiana M. ; Hannequin, Didier ; Powell, John F. ; Nalls, Michael A. ; Ritchie, Karen ; Riemenschneider, Matthias ; Boada, Mercè ; Hiltunen, Mikko ; Pastor, Pau ; Mayeux, Richard ; Graff, Caroline ; Psaty, Bruce M. ; Haines, Jonathan L. ; Lathrop, Mark ; Pericak-Vance, Margaret A. ; Launer, Lenore J. ; Farrer, Lindsay A. ; van Duijn, Cornelia M. ; Williams, Julie ; Holmans, Peter A.

Alzheimer's & dementia, 2015-06, Vol.11 (6), p.658-671 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90
Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90
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Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90

Heath, Laura ; Earls, John C ; Magis, Andrew T ; Kornilov, Sergey A ; Lovejoy, Jennifer C ; Funk, Cory C ; Rappaport, Noa ; Logsdon, Benjamin A ; Mangravite, Lara M ; Kunkle, Brian W ; Martin, Eden R ; Naj, Adam C ; Ertekin-Taner, Nilüfer ; Golde, Todd E ; Hood, Leroy ; Price, Nathan D

Scientific reports, 2022-04, Vol.12 (1), p.6117-6117, Article 6117 [Periódico revisado por pares]

England: Nature Publishing Group

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