Individual common variants exert weak effects on the risk for autism spectrum disorderspi

Autor: Anney, Richard Klei, Lambertus Pinto, Dalila Almeida, Joana and Bacchelli, Elena Baird, Gillian Bolshakova, Nadia and Boelte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Casey, Jillian Conroy, Judith and Correia, Catarina Corsello, Christina Crawford, Emily L. de Jonge, Maretha Delorme, Richard Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. and Folstein, Susan E. Fombonne, Eric Gilbert, John and Gillberg, Christopher Glessner, Joseph T. Green, Andrew and Green, Jonathan Guter, Stephen J. Heron, Elizabeth A. Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa and Igliozzi, Roberta Jacob, Suma Kenny, Graham P. Kim, Cecilia and Kolevzon, Alexander Kustanovich, Vlad Lajonchere, Clara M. and 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. and Magalhaes, Tiago R. Mantoulan, Carine McDougle, Christopher J. and Melhem, Nadine M. Merikangas, Alison Minshew, Nancy J. and Mirza, Ghazala K. Munson, Jeff Noakes, Carolyn Nygren, Gudrun Papanikolaou, Katerina Pagnamenta, Alistair T. and Parrini, Barbara Paton, Tara Pickles, Andrew Posey, David J. and Poustka, Fritz Ragoussis, Jiannis Regan, Regina Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. and Schlitt, Sabine Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Ines Stoppioni, Vera Sykes, Nuala Tancredi, Raffaella Thompson, Ann P. Thomson, Susanne Tryfon, Ana and Tsiantis, John Van Engeland, Herman Vincent, John B. and Volkmar, Fred Vorstman, J. A. S. Wallace, Simon Wing, Kirsty and Wittemeyer, Kerstin Wood, Shawn Zurawiecki, Danielle and Zwaigenbaum, Lonnie Bailey, Anthony J. Battaglia, Agatino and Cantor, Rita M. Coon, Hilary Cuccaro, Michael L. Dawson, Geraldine Ennis, Sean Freitag, Christine M. Geschwind, Daniel H. Haines, Jonathan L. Klauck, Sabine M. McMahon, William M. Maestrini, Elena Miller, Judith Monaco, Anthony P. Nelson, Stanley F. Nurnberger, Jr., John I. Oliveira, Guiomar Parr, Jeremy R. Pericak-Vance, Margaret A. Piven, Joseph Schellenberg, Gerard D. Scherer, StephenW. Vicente, Astrid M. Wassink, Thomas H. Wijsman, Ellen M. Betancur, Catalina Buxbaum, Joseph D. Cook, Edwin H. Gallagher, Louise and Gill, Michael Hallmayer, Joachim Paterson, Andrew D. and Sutcliffe, James S. Szatmari, Peter Vieland, Veronica J. and Hakonarson, Hakon Devlin, Bernie

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

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Autor: Noor, Abdul, Whibley, Annabel, Marshall, Christian, Gianakopoulos, Peter, Piton, Amelie, Carson, Andrew, Orlic-Milacic, Marija, Lionel, Anath, Sato, Daisuke, Pinto, Dalila, Drmic, Irene, Noakes, Carolyn, Senman, Lili, Zhang, Xiaoyun, Mo, Rong, Gauthier, Julie, Crosbie, Jennifer, Pagnamenta, Alistair, Munson, Jeffrey, Estes, Annette, Fiebig, Andreas, Franke, Andre, Schreiber, Stefan, Stewart, Alexandre, Roberts, Robert, McPherson, Ruth, Guter, Stephen, Cook, Edwin, Dawson, Geraldine, Schellenberg, Gerard, Battaglia, Agatino, Maestrini, Elena, Betancur, Catalina, Jeng, Linda, Hutchison, Terry, Rajcan-Separovic, Evica, Chudley, Albert, Lewis, Suzanne, Liu, Xudong, Holden, Jeanette, Fernandez, Bridget, Zwaigenbaum, Lonnie, Bryson, Susan, Roberts, Wendy, Szatmari, Peter, Gallagher, Louise, Stratton, Michael, Gecz, Jozef, Brady, Angela, Schwartz, Charles, Schachar, Russell, Monaco, Anthony, Rouleau, Guy, Hui, Chi-Chung, Lucy Raymond, F., Scherer, Stephen, Vincent, John

Publikováno v: Science Translational Medicine
Science Translational Medicine, American Association for the Advancement of Science, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
Science Translational Medicine, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩

International audience; Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we repor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60a79bc2ef5b247b1d5ff8ed0549fac
https://www.hal.inserm.fr/inserm-03135307

Disruption at the PTCHD1Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Autor: Noor, Abdul, Whibley, Annabel, Marshall, Christian R., Gianakopoulos, Peter J., Piton, Amelie, Carson, Andrew R., Orlic-Milacic, Marija, Lionel, Anath C., Sato, Daisuke, Pinto, Dalila, Drmic, Irene, Noakes, Carolyn, Senman, Lili, Zhang, Xiaoyun, Mo, Rong, Gauthier, Julie, Crosbie, Jennifer, Pagnamenta, Alistair T., Munson, Jeffrey, Estes, Annette M., Fiebig, Andreas, Franke, Andre, Schreiber, Stefan, Stewart, Alexandre F. R., Roberts, Robert, McPherson, Ruth, Guter, Stephen J., Cook, Edwin H., Dawson, Geraldine, Schellenberg, Gerard D., Battaglia, Agatino, Maestrini, Elena, Jeng, Linda, Hutchison, Terry, Rajcan-Separovic, Evica, Chudley, Albert E., Lewis, Suzanne M. E., Liu, Xudong, Holden, Jeanette J., Fernandez, Bridget, Zwaigenbaum, Lonnie, Bryson, Susan E., Roberts, Wendy, Szatmari, Peter, Gallagher, Louise, Stratton, Michael R., Gecz, Jozef, Brady, Angela F., Schwartz, Charles E., Schachar, Russell J., Monaco, Anthony P., Rouleau, Guy A., Hui, Chi-chung, Lucy Raymond, F., Scherer, Stephen W., Vincent, John B.

Publikováno v: Science Translational Medicine; September 2010, Vol. 2 Issue: 49 p49ra68-49ra68, 1p

A genome-wide scan for common alleles affecting risk for autism.

Autor: Anney R; Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland., Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J

Publikováno v: Human molecular genetics [Hum Mol Genet] 2010 Oct 15; Vol. 19 (20), pp. 4072-82. Date of Electronic Publication: 2010 Jul 27.