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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.
Nat Genet. 2016.
PMID: 27694961
Free PMC article.
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Broix L, Asselin L, Silva CG, Ivanova EL, Tilly P, Gilet JG, Lebrun N, Jagline H, Muraca G, Saillour Y, Drouot N, Reilly ML, Francis F, Benmerah A, Bahi-Buisson N, Belvindrah R, Nguyen L, Godin JD, Chelly J, Hinckelmann MV.
Broix L, et al. Among authors: jagline h.
Hum Mol Genet. 2018 Jan 15;27(2):224-238. doi: 10.1093/hmg/ddx384.
Hum Mol Genet. 2018.
PMID: 29077851
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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C, Jagline H, Chelly J, Shaw M, Laumonnier F, Gecz J, Mandel JL, Piton A.
Quartier A, et al. Among authors: jagline h.
Hum Mutat. 2019 Nov;40(11):2021-2032. doi: 10.1002/humu.23836. Epub 2019 Jul 29.
Hum Mutat. 2019.
PMID: 31184401
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Dynamic expression of Notch-dependent neurogenic markers in the chick embryonic nervous system.
Ratié L, Ware M, Jagline H, David V, Dupé V.
Ratié L, et al. Among authors: jagline h.
Front Neuroanat. 2014 Dec 18;8:158. doi: 10.3389/fnana.2014.00158. eCollection 2014.
Front Neuroanat. 2014.
PMID: 25565981
Free PMC article.
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