Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Syndrome and CHD2[original query] |
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| Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American journal of human genetics 2014 May 94 (5): 677-94. Pinto Dalila, Delaby Elsa, Merico Daniele, Barbosa Mafalda, Merikangas Alison, Klei Lambertus, Thiruvahindrapuram Bhooma, Xu Xiao, Ziman Robert, Wang Zhuozhi, Vorstman Jacob A S, 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, 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 |
| CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain : a journal of neurology 2015 May 138 (Pt 5): 1198-207. Galizia Elizabeth C, Myers Candace T, Leu Costin, de Kovel Carolien G F, Afrikanova Tatiana, Cordero-Maldonado Maria Lorena, Martins Teresa G, Jacmin Maxime, Drury Suzanne, Krishna Chinthapalli V, Muhle Hiltrud, Pendziwiat Manuela, Sander Thomas, Ruppert Ann-Kathrin, Møller Rikke S, Thiele Holger, Krause Roland, Schubert Julian, Lehesjoki Anna-Elina, Nürnberg Peter, Lerche Holger, , Palotie Aarno, Coppola Antonietta, Striano Salvatore, Gaudio Luigi Del, Boustred Christopher, Schneider Amy L, Lench Nicholas, Jocic-Jakubi Bosanka, Covanis Athanasios, Capovilla Giuseppe, Veggiotti Pierangelo, Piccioli Marta, Parisi Pasquale, Cantonetti Laura, Sadleir Lynette G, Mullen Saul A, Berkovic Samuel F, Stephani Ulrich, Helbig Ingo, Crawford Alexander D, Esguerra Camila V, Kasteleijn-Nolst Trenité Dorothee G A, Koeleman Bobby P C, Mefford Heather C, Scheffer Ingrid E, Sisodiya Sanjay |
| Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
| Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. Epilepsia open 2019 3 4 (1): 63-72. Tsang Mandy Ho-Yin, Leung Gordon Ka-Chun, Ho Alvin Chi-Chung, Yeung Kit-San, Mak Christopher Chun-Yu, Pei Steven Lim-Cho, Yu Mullin Ho-Chung, Kan Anita Sik-Yau, Chan Kelvin Yuen-Kwong, Kwong Karen Ling, Lee So-Lun, Yung Ada Wing-Yan, Fung Cheuk-Wing, Chung Brian Hon-Y |
| CHD2-related epilepsy: novel mutations and new phenotypes. Developmental medicine and child neurology 2019 11 62 (5): 647-653. Chen Jiaoyang, Zhang Jing, Liu Aijie, Zhang Liping, Li Hua, Zeng Qi, Yang Zhixian, Yang Xiaoling, Wu Xiru, Zhang Yueh |
| Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
| Clinical features and underlying etiology of children with Lennox-Gastaut syndrome. Journal of neurology 2024 7 . Zongpu Zhou, Xianru Jiao, Pan Gong, Yue Niu, Zhao Xu, Genfu Zhang, Yuehua Zhang, Jiong Qin, Zhixian Ya |
- Page last reviewed:Feb 1, 2024
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