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Page 1
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.
Front Neurosci. 2023 Apr 17;17:1154446. doi: 10.3389/fnins.2023.1154446. eCollection 2023.
Front Neurosci. 2023.
PMID: 37144098
Free PMC article.
Review.
Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.
Boitnott A, Garcia-Forn M, Ung DC, Niblo K, Mendonca D, Park Y, Flores M, Maxwell S, Ellegood J, Qiu LR, Grice DE, Lerch JP, Rasin MR, Buxbaum JD, Drapeau E, De Rubeis S.
Boitnott A, et al. Among authors: ung dc.
Biol Psychiatry. 2021 Dec 1;90(11):742-755. doi: 10.1016/j.biopsych.2021.05.027. Epub 2021 Jun 7.
Biol Psychiatry. 2021.
PMID: 34344536
Free PMC article.
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F.
Ung DC, et al.
Mol Psychiatry. 2018 May;23(5):1356-1367. doi: 10.1038/mp.2017.39. Epub 2017 Apr 18.
Mol Psychiatry. 2018.
PMID: 28416808
Free PMC article.
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J, Marouillat S, Dixneuf M, Thépault RA, Ung DC, Chatron N, Gérard B, Ghoumid J, Lesca G, Till M, Smol T, Couque N, Ruaud L, Chune V, Grotto S, Verloes A, Vuillaume ML, Toutain A, Raynaud M, Laumonnier F.
Halewa J, et al. Among authors: ung dc.
Hum Mutat. 2021 Jul;42(7):848-861. doi: 10.1002/humu.24208. Epub 2021 May 3.
Hum Mutat. 2021.
PMID: 33856728
Free PMC article.
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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Ung DC, Pietrancosta N, Badillo EB, Raux B, Tapken D, Zlatanovic A, Doridant A, Pode-Shakked B, Raas-Rothschild A, Elpeleg O, Abu-Libdeh B, Hamed N, Papon MA, Marouillat S, Thépault RA, Stevanin G, Elegheert J, Letellier M, Hollmann M, Lambolez B, Tricoire L, Toutain A, Hepp R, Laumonnier F.
Ung DC, et al.
Mol Psychiatry. 2024 Feb 28. doi: 10.1038/s41380-024-02469-w. Online ahead of print.
Mol Psychiatry. 2024.
PMID: 38418578
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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Jeanne M, Vuillaume ML, Ung DC, Vancollie VE, Wagner C, Collins SC, Vonwill S, Haye D, Chelloug N, Pfundt R, Kummeling J, Moizard MP, Marouillat S, Kleefstra T, Yalcin B, Laumonnier F, Toutain A.
Jeanne M, et al. Among authors: ung dc.
Hum Genet. 2021 Jun;140(6):885-896. doi: 10.1007/s00439-020-02252-1. Epub 2021 Jan 8.
Hum Genet. 2021.
PMID: 33417013
Free article.
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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.
Vuillaume ML, Cogné B, Jeanne M, Boland A, Ung DC, Quinquis D, Besnard T, Deleuze JF, Redon R, Bézieau S, Laumonnier F, Toutain A.
Vuillaume ML, et al. Among authors: ung dc.
Clin Chim Acta. 2018 Oct;485:218-223. doi: 10.1016/j.cca.2018.06.048. Epub 2018 Jun 30.
Clin Chim Acta. 2018.
PMID: 29969624
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