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Träfflista för sökning "WFRF:(Leboyer Marion) srt2:(2000-2004);pers:(Coleman Mary)"

Sökning: WFRF:(Leboyer Marion) > (2000-2004) > Coleman Mary

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1.
  • Jamain, Stephane, et al. (författare)
  • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
  • 2003
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 34:1, s. 27-29
  • Tidskriftsartikel (refereegranskat)abstract
    • Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
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2.
  • Philippe, Anne, et al. (författare)
  • Analysis of ten candidate genes in autism by association and linkage
  • 2002
  • Ingår i: American Journal of Medical Genetics. - : Wiley. - 0148-7299. ; 114:2, s. 125-128
  • Tidskriftsartikel (refereegranskat)abstract
    • We studied the possible involvement of ten candidate genes in autism: proenkephalin, prodynorphin, and proprotein convertase subtilisin/kexin type 2 (opioid metabolism); tyrosine hydroxylase, dopamine receptors D2 and D5, monoamine oxidases A and B (monoaminergic system); brain-derived neurotrophic factor, and neural cell adhesion molecule (involved in neurodevelopment). Thirty-eight families with two affected siblings and one family with two affected half-siblings, recruited by the Paris Autism Research International Sibpair Study (PARIS), were tested using the transmission disequilibrium test and two-point affected sib-pair linkage analysis. We found no evidence for association or linkage with intragenic or linked markers. Our family sample has good power for detecting a linkage disequilibrium of 0.80. Thus, these genes are unlikely to play a major role in the families studied, but further studies in a much larger sample would be needed to highlight weaker genetic effects.
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