… One single de novo base pair deletion in exon 5 and an inherited two base pair substitution
in exon 2 resulting in a loss of protein production have been described."' AC to T point …

The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male
and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a …

… In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys
and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal …

The fragile X syndrome is caused by an expanded CGG repeat (> 200 units, full mutation) at
the 5' end of the FMR1 gene, which is associated with methylation of a CpG island upstream …

A special subphenotype of the fragile X syndrome is reported which is characterised by
extreme obesity with a full, round face, small, broad hands/feet, and regional skin …

… Second, cataloging and interpreting deleterious variations at ciliopathy loci and other DE
genes identified in this study might inform on the observed variability in clinical expressivity of …

… Periventricular nodular heterotopia and other less common neuroimaging abnormalities in
Koolen-de Vries syndrome. Periventricular nodular heterotopia is shown in (A–C) (cases 14, …

The chromosome region 22q11.2 has long been recognized to be susceptible to genomic
rearrangement. More recently, this genomic instability has been shown to extend distally (…

… How to cite this article: Faas BHW, de Leeuw N, Mieloo H, Bruinenberg J, de Vries BBA. …
described in detail by de Vries et al. [2005]) was performed, with all clone data based on version …

The fragile X syndrome is an X linked, semidominant mental retardation disorder caused by
the amplification of a CGG repeat in the 5' UTR of the FMR1 gene. Nineteen fragile X …