X-Linked intellectual disability (XLID) accounts for 5%–10% of intellectual disability in males.
Over 150 syndromes, the most common of which is the fragile X syndrome, have been …

A Consensus Conference utilizing available literature and expert opinion sponsored by the
American College of Medical Genetics in October 1995 evaluated the rational approach to …

Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in
which affected patients do not have any distinctive clinical or biochemical features in …

Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an
essential role in the recycling of Rab GTPases required for vesicular transport through the …

We demonstrate here the importance of interleukin signalling pathways in cognitive function
and the normal physiology of the CNS. Thorough investigation of an MRX critical region in …

Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located
on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including …

X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely
to be highly heterogeneous 1, 2, 3. They can be categorized into syndromic (MRXS) and …

X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability
with an estimated prevalence of∼ 1/1000 males. Most XLMR conditions are inherited as X …

Here we report the cloning of two cDNAs, Snf2h and Snf2l, encoding the murine members of
the Imitation Switch (ISWI) family of chromatin remodeling proteins. To gain insight into their …

To date over 150 X linked mental retardation (XLMR) conditions have been documented.
We describe a five generation South African family with XLMR, comprising 16 affected males …