Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …

Fragile X syndrome (FXS) is caused by the full mutation (> 200 CGG repeats) in the Fragile
X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual …

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

Abstract Changes in the fragile X mental retardation 1 gene (FMR1) have been associated
with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X …

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) …

The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is
due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an …

BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most
biological mothers, and often multiple other family members of children with fragile X …

Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability
and it is characterized by a CGG expansion of more than 200 repeats in the FMR1 gene …

Background and objectives Fragile X Syndrome (FXS) is the most common cause of
inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene …

Background Expansion of the CGG repeat region of the FMR1 gene from less than 45
repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the …