S. Jacquemont

Discipline

Psychologie (9) Anthropologie biologique (2) Economies et finances (1)

Type de document

Articles (32) Recensions (3)

Co-auteur

Date

Source

Mot-clé

Number (19) Deletion (16) Human beings (16) Carriers (14) adulte (13) Autism (13) adulte (13) puits (12) Phenotype (12) Brain (11) cerveau (11) maladie (11) risque (10) effet (10) Risk (10) adolescent (10) ADN (9) maladie (9) Weights and measures (9) DNA (9) gène (8) enfant (8) jeune (8) Variations (8) Chromosomes (8) Older people (8) Regions (8) association (7) analyse (7) Social groups (7)

Documents écrit par S. Jacquemont (32) | parle de S. Jacquemont (0)

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
I.E. Sønderby et al.
Effects of eight neuropsychiatric copy number variants on human brain structure.
C. Modenato et al. (20 juil. 2021)
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
I.E. Sønderby et al. (22 mars 2021)
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
I.E. Sønderby et al.
Psychiatric disorders in children with 16p11.2 deletion and duplication.
M. Niarchou et al. (16 janv. 2019)
In-vivo probabilistic atlas of human thalamic nuclei based on diffusion- weighted magnetic resonance imaging.
E. Najdenovska et al. (27 nov. 2018)
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
R. Hagerman et al. (19 nov. 2018)
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
S. Jacquemont et al. (1 nov. 2018)
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
S. Martin-Brevet et al. (15 août 2018)
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
S. Jacquemont et al. (15 juin 2018)
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
A. Macé et al. (29 sept. 2017)
Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties.
G. Battistella et al.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
M.N. Loviglio et al. (2017)
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
L. Hippolyte et al. (15 juil. 2016)
Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.
S. Brasa et al. (2016)
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D. et al. (2016)
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
A.M. Maillard et al.
Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism.
L. Mottron et al. (2015)
Copy number variations and cognitive phenotypes in unselected populations
K. Männik et al. (2015)
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
E.M. Reinthaler et al. (2014)
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.
A. Valsesia et al. (2013)
The challenges of clinical trials in fragile X syndrome
S. Jacquemont et al. (2013)
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
R.G. Walters et al. (2013)
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
C. Golzio et al. (2012)
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
F. Zufferey et al. (2012)

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