Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

Premature ovarian failure (POF) causing hypergonadotrophic hypogonadism occurs in 1%
of women. In majority of cases the underlying cause is not identified. The known causes …

The preliminary results of an international collaborative study examining premature
menopause in fragile X carriers are presented. A total of 760 women from fragile X families …

We have screened 132 women with premature ovarian failure for fragile X (FRAXA)
premutations. Three out of 23 (13%) pedigrees with the familial premature ovarian failure …

Up to 28% of female fragile X premutation carriers develop premature ovarian failure. To test
the hypothesis that fragile X premutation carriers with ovulatory menstrual cycles exhibit …

Fragile X syndrome generally arises as a consequence of a large expansion of a CGG
trinucleotide repeat element that is located in the GC‐rich promoter region of the fragile X …

Most individuals with the fragile X premutation are clinically unaffected; however, some
show clinical manifestations, including learning difficulties, emotional problems, or even …

Premature ovarian failure is defined as cessation of ovarian function under the age of 40
years and affects approximately 1% of women in the general population. The aetiology of …

A total of 106 women affected by premature ovarian failure (POF) were evaluated for fragile
X (FRAXA) premutation. The POF patients were classified as having a familial condition (33 …

This review presents the genetic disorders associated with premature ovarian failure (POF),
obtained by Medline, the Cochrane Library and hand searches of pertinent references of …