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Celine de Esch
Celine de Esch
Center for Genomic Medicine
在 mgh.harvard.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Zebrafish as potential model for developmental neurotoxicity testing: a mini review
C De Esch, R Slieker, A Wolterbeek, R Woutersen, D de Groot
Neurotoxicology and teratology 34 (6), 545-553, 2012
2302012
Locomotor activity assay in zebrafish larvae: influence of age, strain and ethanol
C de Esch, H van der Linde, R Slieker, R Willemsen, A Wolterbeek, ...
Neurotoxicology and teratology 34 (4), 425-433, 2012
1462012
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice
I Gantois, AS Pop, CEF de Esch, RAM Buijsen, T Pooters, ...
Behavioural brain research 239, 72-79, 2013
1052013
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant
AS Pop, J Levenga, CEF de Esch, RAM Buijsen, IM Nieuwenhuizen, T Li, ...
Psychopharmacology 231, 1227-1235, 2014
932014
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation
CEF de Esch, M Ghazvini, F Loos, N Schelling-Kazaryan, W Widagdo, ...
Stem cell reports 3 (4), 548-555, 2014
652014
Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production
H Chen, AK Victor, J Klein, KF Tacer, DJC Tai, C de Esch, A Nuttle, ...
JCI insight 5 (17), 2020
572020
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
482023
A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function
Z Okray, CEF de Esch, H Van Esch, K Devriendt, A Claeys, J Yan, ...
EMBO molecular medicine 7 (4), 423-437, 2015
482015
Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test
CEF De Esch, WE van Den Berg, RAM Buijsen, IA Jaafar, ...
Neurobiology of disease 75, 31-39, 2015
402015
Delay and impairment in brain development and function in rat offspring after maternal exposure to methylmercury
M Radonjic, NLM Cappaert, EFJ de Vries, CEF de Esch, FC Kuper, ...
toxicological sciences 133 (1), 112-124, 2013
292013
Translational endpoints in fragile X syndrome
CEF de Esch, S Zeidler, R Willemsen
Neuroscience & Biobehavioral Reviews 46, 256-269, 2014
252014
Tissue-and cell-type-specific molecular and functional signatures of 16p11. 2 reciprocal genomic disorder across mouse brain and human neuronal models
DJC Tai, P Razaz, S Erdin, D Gao, J Wang, X Nuttle, CE De Esch, ...
The American Journal of Human Genetics 109 (10), 1789-1813, 2022
212022
Positioning of leukocyte subsets in the portal and lobular compartments of hepatitis C virus‐infected liver correlates with local chemokine expression
N Nguyen, C de Esch, B Cameron, RK Kumar, A Zekry, AR Lloyd
Journal of gastroenterology and hepatology 29 (4), 860-869, 2014
192014
Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model
S Zeidler, AS Pop, IA Jaafar, H De Boer, RAM Buijsen, CEF de Esch, ...
Brain and Behavior 8 (6), e00991, 2018
172018
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
AJMH Verkerk, S Zeidler, G Breedveld, L Overbeek, D Huigh, L Koster, ...
European Journal of Human Genetics 26 (4), 552-560, 2018
162018
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
CM Seabra, T Aneichyk, S Erdin, DJC Tai, CEF De Esch, P Razaz, Y An, ...
Molecular autism 11, 1-15, 2020
142020
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies
C Liao, M Moyses-Oliveira, CEF De Esch, R Bhavsar, X Nuttle, A Li, A Yu, ...
Cell Genomics 3 (4), 2023
42023
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ...
Genetics in Medicine 26 (10), 101199, 2024
12024
Perinatal exposure to the immune-suppressant di-n-octyltin dichloride affects brain development in rats
DMG de Groot, L Linders, R Kayser, R Nederlof, C de Esch, RC Slieker, ...
Toxicology mechanisms and methods 34 (3), 283-299, 2024
2024
Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing
D Rohm, JB Black, SR McCutcheon, A Barrera, DJ Morone, X Nuttle, ...
bioRxiv, 2024
2024
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