Joëlle Boué

TL;DR: expression of the fragile X syndrome appears to result from a two-step mutation as well as a highly localized methylation, and can easily be detected regardless of sex or phenotypic expression.

TL;DR: This work has devised a method of identifying carriers of these mutations by direct DNA analysis and distinguished clearly in a single test between the normal genotype, the premutation, and the full mutation.

TL;DR: During the last two decades, the important progress that has been made in the control of human reproduction, in medical care during pregnancy and the neonatal period, and more recently in in vitro fertilization has focused interest on the understanding of the causes of the high mortality rate.

TL;DR: The results validate the analysis of chorionic villi for direct prenatal diagnosis of the fragile X syndrome and indicate that somatic heterogeneity of the full mutation is established during the very early stages of embryogenesis.

TL;DR: A novel missense mutation in exon 2 of PAK3 gene (R67C) is identified that is predicted to play a major role in the GTPases binding and stimulation of Pak activity in MRX47 males.