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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Seizures and DYRK1A[original query]
DYRK1A mutations in two unrelated patients.
European journal of medical genetics 2015 Mar 58 (3): 168-74.
Ruaud Lyse, Mignot Cyril, Guët Agnès, Ohl Christelle, Nava Caroline, Héron Delphine, Keren Boris, Depienne Christel, Benoit Valérie, Maystadt Isabelle, Lederer Damien, Amsallem Daniel, Piard Juliet
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
Molecular psychiatry 2015 Feb .
van Bon B W M, Coe B P, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen M H, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford H C, Scheffer I, Gecz J, de Vries B B A, Eichler E
DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures.
Neurobiology of disease 2017 12 110 180-191.
Raveau Matthieu, Shimohata Atsushi, Amano Kenji, Miyamoto Hiroyuki, Yamakawa Kazuhi
[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 5 39 (5): 530-533.
Zhuo Zhihong, Wang Yao, Fu Tianjiao, Fang Xiao, Xu Xiaoli, Wang Yue, Kong Huimin, Wang Huai
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