List of works by Sylvain Briault

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

scientific article published on 9 July 2009

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

scientific article

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

scientific article

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

scientific article

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

scientific article

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

scientific article

Pre- and postnatal exposure to low dose glufosinate ammonium induces autism-like phenotypes in mice

scientific article

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

scientific article

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

scientific article

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

scientific article (publication date: 17 October 2012)

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

scientific article

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

scientific article

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