Claude Marineau
Overview
Explore the profile of Claude Marineau including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
1005
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Recent Articles
1.
Hamdan F, Gauthier J, Araki Y, Lin D, Yoshizawa Y, Higashi K, et al.
Am J Hum Genet
. 2011 Mar;
88(3):306-16.
PMID: 21376300
Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In...
2.
Awadalla P, Gauthier J, Myers R, Casals F, Hamdan F, Griffing A, et al.
Am J Hum Genet
. 2010 Aug;
87(3):316-24.
PMID: 20797689
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the rate of de novo deleterious mutations and the strength of selection against de novo mutations...
3.
Gauthier J, Champagne N, Lafreniere R, Xiong L, Spiegelman D, Brustein E, et al.
Proc Natl Acad Sci U S A
. 2010 Apr;
107(17):7863-8.
PMID: 20385823
Schizophrenia likely results from poorly understood genetic and environmental factors. We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents. Two...
4.
Hamdan F, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, et al.
Ann Neurol
. 2009 Jun;
65(6):748-53.
PMID: 19557857
We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental...
5.
Hamdan F, Gauthier J, Pellerin S, Dobrzeniecka S, Marineau C, Fombonne E, et al.
Arch Neurol
. 2009 May;
66(5):675-6.
PMID: 19433673
No abstract available.
6.
Hamdan F, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, et al.
N Engl J Med
. 2009 Feb;
360(6):599-605.
PMID: 19196676
Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1,...
7.
Piton A, Michaud J, Peng H, Aradhya S, Gauthier J, Mottron L, et al.
Hum Mol Genet
. 2008 Sep;
17(24):3965-74.
PMID: 18801879
In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation...
8.
Gauthier J, Spiegelman D, Piton A, Lafreniere R, Laurent S, St-Onge J, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2008 Jul;
150B(3):421-4.
PMID: 18615476
A number of studies have confirmed that genetic factors play an important role in autism spectrum disorder (ASD). More recently de novo mutations in the SHANK3 gene, a synaptic scaffolding...