Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Bolshakova, Nadia"'
Akademický článek
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Autor:
Buxbaum, Joseph D.1 joseph.buxbaum@mssm.edu, Bolshakova, Nadia2 bolshakn@tcd.ie, Brownfeld, Jessica M.1 jessica.brownfeld@mssm.edu, Anney, Richard J. L.2 anneyr@tcd.ie, Bender, Patrick3, Bernier, Raphael4 rab2@uw.edu, Cook, Edwin H.5 ecook@psych.uic.edu, Coon, Hilary6 hilary.coon@utah.edu, Cuccaro, Michael7 mcuccaro@med.miami.edu, Freitag8, Christine M.8 c.freitag@em.uni-frankfurt.de, Hallmayer, Joachim9 joachimh@stanford.edu, Geschwind, Daniel10 dhg@mednet.ucla.edu, Klauck, Sabine M.11 s.klauck@dkfz-heidelberg.de, Nurnberger, John I.12 jnurnber@iupui.edu, Oliveira, Guiomar13,14 guiomar@hpc.chc.min-saude.pt, Pinto, Dalila1 dalila.pinto@mssm.edu, Poustka, Fritz8 poustka@em.uni-frankfurt.de, Scherer, Stephen W.15 stephen.scherer@sickkids.ca, Shih, Andy16 ashih@autismspeaks.org, Sutcliffe, James S.17,18 james.s.sutcliffe@vanderbilt.edu
Publikováno v:
Molecular Autism. 2014, Vol. 5 Issue 1, p1-19. 19p.
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Wang, Zhuozhi, Vorstman, Jacob AS, Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T, Oliveira, Bárbara, Marshall, Christian R, Magalhaes, Tiago R, Lowe, Jennifer K, Howe, Jennifer L, Griswold, Anthony J, Gilbert, John, Duketis, Eftichia, Dombroski, Beth A, De Jonge, Maretha V, Cuccaro, Michael, Crawford, Emily L, Correia, Catarina T, Conroy, Judith, Conceição, Inês C, Chiocchetti, Andreas G, Casey, Jillian P, Cai, Guiqing, Cabrol, Christelle, Bolshakova, Nadia, Bacchelli, Elena, Anney, Richard, Gallinger, Steven, Cotterchio, Michelle, Casey, Graham, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, Wallace, Simon, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Soorya, Latha, 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, Fernandez, Bridget A, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F, Bölte, Sven, Bernier, Raphael, Baird, Gillian, Bailey, Anthony J, Anagnostou, Evdokia, 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
Publikováno v:
American journal of human genetics, vol 94, iss 5
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::41ef0c71be8a4388da39ddef51ba6b9c
https://escholarship.org/uc/item/2pf286f3
https://escholarship.org/uc/item/2pf286f3
Autor:
Hadley, Dexter, Wu, Zhi Liang, Kao, Charlly, Kini, Akshata, Mohamed-Hadley, Alisha, Thomas, Kelly, Vazquez, Lyam, Qiu, Haijun, Mentch, Frank, Pellegrino, Renata, Kim, Cecilia, Connolly, John, Pinto, Dalila, Merikangas, Alison, Klei, Lambertus, Vorstman, Jacob, Thompson, Ann, Regan, Regina, Pagnamenta, Alistair, Oliveira, Barbara, Magalhaes, Tiago, Gilbert, John, Duketis, Eftichia, De Jonge, Maretha, Cuccaro, Michael, Correia, Catarina, Conroy, Judith, Conceição, Inês, Chiocchetti, Andreas, Casey, Jillian, Bolshakova, Nadia, Bacchelli, Elena, Anney, Richard, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wallace, Simon, Van Engeland, Herman, Soorya, Latha, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, Mcgrew, Susan, Lord, Catherine, Leboyer, Marion, Le Couteur, Ann, Kolevzon, Alexander, Jacob, Suma, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Fernandez, Bridget, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick, Bölte, Sven, Bernier, Raphael, Baird, Gillian, Bailey, Anthony, Anagnostou, Evdokia, Almeida, Joana, Wijsman, Ellen, Vieland, Veronica, Vicente, Astrid, Schellenberg, Gerard, Pericak-Vance, Margaret, Paterson, Andrew, Parr, Jeremy, Oliveira, Guiomar, Nurnberger, John, Monaco, Anthony, Maestrini, Elena, Klauck, Sabine, Haines, Jonathan, Geschwind, Daniel, Freitag, Christine, Folstein, Susan, Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James, Hallmayer, Joachim, Gill, Michael, Cook, Edwin, Buxbaum, Joseph, Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen, Glessner, Joseph, Hakonarson, Hakon
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2014, 5, pp.4074. ⟨10.1038/ncomms5074⟩
Nature Communications, 2014, 5, pp.4074. ⟨10.1038/ncomms5074⟩
Nature Communications, Nature Publishing Group, 2014, 5, pp.4074. ⟨10.1038/ncomms5074⟩
Nature Communications, 2014, 5, pp.4074. ⟨10.1038/ncomms5074⟩
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed6aa28c70a78591e663b8f2fda87dc7
https://www.hal.inserm.fr/inserm-01009668/document
https://www.hal.inserm.fr/inserm-01009668/document
Autor:
Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J
Publikováno v:
Human molecular genetics, vol 21, iss 21
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive pic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7a8821b5fe3a9bd319c1f760c35e4ae0
https://escholarship.org/uc/item/7452m9z1
https://escholarship.org/uc/item/7452m9z1
Autor:
Casey, Jillian P, Magalhaes, Tiago, Conroy, Judith M, Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C, Abrahams, Brett S, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Foley, Suzanne, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Lamb, Janine A, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lord, Catherine, Lund, Sabata C, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L, Sequeira, Ana F, Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P, Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, Jacob AS, Wallace, Simon, Wang, Kai, Wassink, Thomas H, White, Kathy
Publikováno v:
Human genetics, vol 131, iss 4
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4f5bfd612c4f125cdff14f5ad678254a
https://escholarship.org/uc/item/3k8329tm
https://escholarship.org/uc/item/3k8329tm
Autor:
Shah, Naisha, Bolshakova, Nadia, Foley, Suzanne, Cali, Phil, Anney, Richard, Dawson, Geraldine, Conroy, Judith M., Estes, Annette, Duketis, Eftichia, Casey, Jillian P., Bourgeron, Thomas, Coutanche, Marc, Battaglia, Agatino, Bacchelli, Elena, Folstein, Susan E., Delorme, Richard, Farrar, Penny, Correia, Catarina, Fernandez, Bridget A., Abrahams, Brett S., de Jonge, Maretha, Baird, Gillian, Almeida, Joana, Regan, Regina, Magalhaes, Tiago, Bolton, Patrick F., Bailey, Anthony J., Shields, Denis C., Duque, Frederico, Brennan, Sean, Corsello, Christina, Berney, Tom
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5f016554c7285a2cd4d65a66d1b83e9
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive pic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::b17c4e43c4743d7833a531793acab4f1
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3154362
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3154362