FRAXA Syndrome

OBJECTIVE The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early… (More)

Studies of the relationship between the fragile X (FRAXA) mutation and autism have been controversial. Although there are… (More)

This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental… (More)

We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen… (More)

Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF… (More)

Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether FRAXA or FRAXE can account for… (More)

Dizygotic (DZ) twinning appears to run in families and the underlying trait, multiple ovulation, appears to be genetically… (More)

Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full… (More)

Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was… (More)

The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic… (More)