Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …

Over the past decade, it has become increasingly obvious that epigenetic mechanisms are
an integral part of a multitude of brain functions that range from the development of the …

The Autisms, written by Mary Coleman and Christopher Gillberg, demonstrates that autism,
like mental retardation, is a clinical presentation of numerous different diseases, many with …

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability,
resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene …

OBJECTIVE: Current research suggests that the causes of autism spectrum disorders (ASD)
are multifactorial and include both genetic and environmental factors. Several lines of …

The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …

Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

Epigenetic mechanisms are not only essential for biological functions requiring stable
molecular changes such as the establishment of cell identity and tissue formation, they also …

The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS),
premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome …

Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to
fragile X syndrome (FXS) through a process that generally involves hypermethylation of the …