Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

Primary ovarian insufficiency (POI) is an uncommon yet devastating occurrence that results
from a premature depletion of the ovarian pool of primordial follicles. Our understanding of …

Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of
infertility. It is often considered to be a monogenic disorder, with pathogenic variants in~ 100 …

Mammalian mitochondrial ribosomes translate 13 proteins encoded by mitochondrial genes,
all of which play roles in the mitochondrial respiratory chain. After a long period of …

BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

Puberty is the period of transition from childhood to adulthood characterized by the
attainment of adult height and body composition, accrual of bone strength and the …

Premature ovarian insufficiency (POI) is a complex clinical syndrome with life-changing
physiological and psychological consequence in young women of reproductive age …

Various pathogenic factors can lead to oogenesis failure and seriously affect both female
reproductive health and fertility. Genetic factors play an important role in folliculogenesis and …

Background The loss of ovarian function in women, referred to as premature ovarian
insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically …

BACKGROUND As in other domains of medicine, high-throughput sequencing methods
have led to the identification of an ever-increasing number of gene variants in the fields of …