Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Syndrome and MEF2C[original query] |
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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human mutation 2010 Jun 31 (6): 722-33. Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani |
ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 2017 Dec . Myers Kenneth A, Nasioulas Steven, Boys Amber, McMahon Jacinta M, Slater Howard, Lockhart Paul, Sart Desirée du, Scheffer Ingrid |
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation. Cardiovascular genetics 2017 Oct 10 (5): . Guo Tingwei, Repetto Gabriela M, McDonald McGinn Donna M, Chung Jonathan H, Nomaru Hiroko, Campbell Christopher L, Blonska Anna, Bassett Anne S, Chow Eva W C, Mlynarski Elisabeth E, Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E, Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E, Digilio M Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E, Piotrowicz Ma?gorzata, Hawu?a Wanda, Roberts Amy E, Tassone Flora, Simon Tony J, van Duin Esther D A, van Amelsvoort Thérèse A, Kates Wendy R, Zackai Elaine, Johnston H Richard, Cutler David J, Agopian A J, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Emanuel Beverly S, Morrow Bernice E, |
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. BMC medical genetics 2018 11 19 (1): 191. Wang Jiaping, Zhang Qingping, Chen Yan, Yu Shujie, Wu Xiru, Bao Xinhua, Wen Yongx |
[Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 38 (11): 1127-1131. Xu Xin, Li Hongying, Zhang Li, Lu Fen, Tang Ji |
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