Premature ovarian failure (POF) usually happens former to the age of 40 and affects the
female physiological state premenopausal period. In this condition, ovaries stop working …

Premature ovarian failure (POF) is a kind of gynecological disease that causes amenorrhea,
infertility, menopause and urogenital symptoms. Currently hormone replacement therapy …

The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55–200
repeats) to a full mutation allele (> 200 repeats) and is the most frequent cause of inherited X …

Dynamic mutations by microsatellite instability are the molecular basis of a growing number
of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human …

Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1)
gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated …

Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due
to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5′-UTR …

The FMR1 5′ regulation gene region harbors a CGG trinucleotide repeat expansion (CGG‐
TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions …

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1
gene (Xq27. 3): an expansion above 200 repeats of a CGG triplet located in the 5′ UTR of …

FMR1 premutation carriers (55-199 CGG repeats), and potentially women with high normal
(35-44) or low normal (< 28) CGG repeats, are at risk of premature ovarian aging. The …

Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable
allele from his full mutation mosaic mother (29, 160,> 200 CGG repeats) reduced to a normal …