Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Syndrome and ZEB2[original query] |
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Human molecular genetics 2012 Dec 21 (24): 5359-72. , , Steffens Michael, Leu Costin, Ruppert Ann-Kathrin, Zara Federico, Striano Pasquale, Robbiano Angela, Capovilla Giuseppe, Tinuper Paolo, Gambardella Antonio, Bianchi Amedeo, La Neve Angela, Crichiutti Giovanni, de Kovel Carolien G F, Kasteleijn-Nolst Trenité Dorothée, de Haan Gerrit-Jan, Lindhout Dick, Gaus Verena, Schmitz Bettina, Janz Dieter, Weber Yvonne G, Becker Felicitas, Lerche Holger, Steinhoff Bernhard J, Kleefuß-Lie Ailing A, Kunz Wolfram S, Surges Rainer, Elger Christian E, Muhle Hiltrud, von Spiczak Sarah, Ostertag Philipp, Helbig Ingo, Stephani Ulrich, Møller Rikke S, Hjalgrim Helle, Dibbens Leanne M, Bellows Susannah, Oliver Karen, Mullen Saul, Scheffer Ingrid E, Berkovic Samuel F, Everett Kate V, Gardiner Mark R, Marini Carla, Guerrini Renzo, Lehesjoki Anna-Elina, Siren Auli, Guipponi Michel, Malafosse Alain, Thomas Pierre, Nabbout Rima, Baulac Stephanie, Leguern Eric, Guerrero Rosa, Serratosa Jose M, Reif Philipp S, Rosenow Felix, Mörzinger Martina, Feucht Martha, Zimprich Fritz, Kapser Claudia, Schankin Christoph J, Suls Arvid, Smets Katrin, De Jonghe Peter, Jordanova Albena, Caglayan Hande, Yapici Zuhal, Yalcin Destina A, Baykan Betul, Bebek Nerses, Ozbek Ugur, Gieger Christian, Wichmann Heinz-Erich, Balschun Tobias, Ellinghaus David, Franke Andre, Meesters Christian, Becker Tim, Wienker Thomas F, Hempelmann Anne, Schulz Herbert, Rüschendorf Franz, Leber Markus, Pauck Steffen M, Trucks Holger, Toliat Mohammad R, Nürnberg Peter, Avanzini Giuliano, Koeleman Bobby P C, Sander Thom |
| Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation research 2014 Oct 115 (10): 884-96. Glessner Joseph T, Bick Alexander G, Ito Kaoru, Homsy Jason G, Rodriguez-Murillo Laura, Fromer Menachem, Mazaika Erica, Vardarajan Badri, Italia Michael, Leipzig Jeremy, DePalma Steven R, Golhar Ryan, Sanders Stephan J, Yamrom Boris, Ronemus Michael, Iossifov Ivan, Willsey A Jeremy, State Matthew W, Kaltman Jonathan R, White Peter S, Shen Yufeng, Warburton Dorothy, Brueckner Martina, Seidman Christine, Goldmuntz Elizabeth, Gelb Bruce D, Lifton Richard, Seidman Jonathan, Hakonarson Hakon, Chung Wendy |
| Sleep disturbance in Mowat-Wilson syndrome. American journal of medical genetics. Part A 2015 Dec . Evans Elizabeth, Mowat David, Wilson Meredith, Einfeld Stewa |
| A new risk locus in the ZEB2 gene for schizophrenia in the Han Chinese population. Progress in neuro-psychopharmacology & biological psychiatry 2015 Dec . Khan Raja Amjad Waheed, Chen Jianhua, Wang Meng, Li Zhiqiang, Shen Jiawei, Wen Zujia, Song Zhijian, Li Wenjin, Xu Yifeng, Wang Lishan, Shi Yongyo |
| De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients. NPJ genomic medicine 2016 1 16033. Mak Christopher C Y, Chow Pak Cheong, Liu Anthony P Y, Chan Kelvin Y K, Chu Yoyo W Y, Mok Gary T K, Leung Gordon K C, Yeung Kit San, Chau Adolphus K T, Lowther Chelsea, Scherer Stephen W, Marshall Christian R, Bassett Anne S, Chung Brian H |
| Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of medical genetics 2020 4 57 (7): 466-474. Chevarin Martin, Duffourd Yannis, A Barnard Rebecca, Moutton Sébastien, Lecoquierre François, Daoud Fatma, Kuentz Paul, Cabret Caroline, Thevenon Julien, Gautier Elodie, Callier Patrick, St-Onge Judith, Jouan Thibaud, Lacombe Didier, Delrue Marie Ange, Goizet Cyril, Morice-Picard Fanny, Van-Gils Julien, Munnich Arnold, Lyonnet Stanislas, Cormier-Daire Valérie, Baujat Geneviève, Holder Muriel, Petit Florence, Leheup Bruno, Odent Sylvie, Jouk Pierre-Simon, Lopez Gipsy, Geneviève David, Collignon Patrick, Martin-Coignard Dominique, Jacquette Aurélia, Perrin Laurence, Putoux Audrey, Sarrazin Elisabeth, Amarof Khadija, Missotte Isabelle, Coubes Christine, Jagadeesh Sujatha, Lapi Elisabetta, Demurger Florence, Goldenberg Alice, Doco-Fenzy Martine, Mignot Cyril, Héron Delphine, Jean-Marçais Nolwenn, Masurel Alice, El Chehadeh Salima, Marle Nathalie, Huet Frédéric, Binquet Christine, Collod-Beroud Gwenaëlle, Arnaud Pauline, Hanna Nadine, Boileau Catherine, Jondeau Guillaume, Olaso Robert, Lechner Doris, Poe Charlotte, Assoum Mirna, Carmignac Virginie, Duplomb Laurence, Tran Mau-Them Frédéric, Philippe Christophe, Vitobello Antonio, Bruel Ange-Line, Boland Anne, Deleuze Jean-François, Thauvin-Robinet Christel, Rivière Jean-Baptiste, O'Roak Brian J, Faivre Lauren |
| Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent
variants. Experimental and therapeutic medicine 2020 Dec 20 (6): 263. Zou Dongfang, Wang Lin, Wen Feiqiu, Xiao Hongdou, Duan Jing, Zhang Tongda, Yin Zhenzhen, Dong Qiwen, Guo Jian, Liao Jianxia |
| Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review. Frontiers in genetics 2022 6 13 853183. Fu Youqing, Xu Wanfang, Wang Qingming, Lin Yangyang, He Peiqing, Liu Yanhui, Yuan Haimi |
| Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome. Frontiers in genetics 2022 11 13 1016677. Wu Lihua, Wang Jianhong, Wang Lei, Xu Qi, Zhou Bo, Zhang Zhen, Li Qi, Wang Hui, Han Lu, Jiang Qian, Wang L |
| Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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