Sebastien Jacquemont
Sebastien Jacquemont
CHU Sainte Justine Research Center, University of Montreal
Preverjeni e-poštni naslov na umontreal.ca - Domača stran
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
S Jacquemont, RJ Hagerman, M Leehey, J Grigsby, L Zhang, ...
The American Journal of Human Genetics 72 (4), 869-878, 2003
Penetrance of the fragile X–associated tremor/ataxia syndrome in a premutation carrier population
S Jacquemont, RJ Hagerman, MA Leehey, DA Hall, RA Levine, ...
Jama 291 (4), 460-469, 2004
A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders
S Jacquemont, BP Coe, M Hersch, MH Duyzend, N Krumm, S Bergmann, ...
The American Journal of Human Genetics 94 (3), 415-425, 2014
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
RG Walters, S Jacquemont, A Valsesia, AJ de Smith, D Martinet, ...
Nature 463 (7281), 671-675, 2010
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
CM Greco, RJ Hagerman, F Tassone, AE Chudley, MR Del Bigio, ...
Brain 125 (8), 1760-1771, 2002
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
C Golzio, J Willer, ME Talkowski, EC Oh, Y Taniguchi, S Jacquemont, ...
Nature 485 (7398), 363-367, 2012
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
JA Brunberg, S Jacquemont, RJ Hagerman, EM Berry-Kravis, J Grigsby, ...
American Journal of Neuroradiology 23 (10), 1757-1766, 2002
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
S Jacquemont, A Curie, V Des Portes, MG Torrioli, E Berry-Kravis, ...
Science translational medicine 3 (64), 64ra1-64ra1, 2011
Fragile-X–associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
RJ Hagerman, BR Leavitt, F Farzin, S Jacquemont, CM Greco, ...
The American Journal of Human Genetics 74 (5), 1051-1056, 2004
Fragile X‐associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
E Berry‐Kravis, L Abrams, SM Coffey, DA Hall, C Greco, LW Gane, ...
Movement disorders: official journal of the Movement Disorder Society 22 (14 …, 2007
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders
F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ...
Journal of medical genetics 49 (10), 660-668, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ...
Nature genetics 44 (3), 338-342, 2012
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
S Jacquemont, RJ Hagerman, PJ Hagerman, MA Leehey
The Lancet Neurology 6 (1), 45-55, 2007
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
EM Berry-Kravis, L Lindemann, AE Jønch, G Apostol, MF Bear, ...
Nature reviews Drug discovery 17 (4), 280-299, 2018
The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome
J Wirojanan, S Jacquemont, R Diaz, S Bacalman, TF Anders, ...
Journal of Clinical Sleep Medicine 5 (2), 145-150, 2009
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
E Berry-Kravis, V Des Portes, R Hagerman, S Jacquemont, P Charles, ...
Science translational medicine 8 (321), 321ra5-321ra5, 2016
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, ...
Journal of Medical Genetics 42 (2), 121-128, 2005
Defining the effect of the 16p11. 2 duplication on cognition, behavior, and medical comorbidities
D D’Angelo, S Lebon, Q Chen, S Martin-Brevet, LAG Snyder, L Hippolyte, ...
JAMA psychiatry 73 (1), 20-30, 2016
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome
N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ...
European journal of medical genetics 52 (2-3), 94-100, 2009
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