Genetics of primary ovarian insufficiency: new developments and opportunities

Y Qin, X Jiao, JL Simpson… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

Ovarian aging: mechanisms and clinical consequences

FJ Broekmans, MR Soules, BC Fauser - Endocrine reviews, 2009 - academic.oup.com
Menopause is the final step in the process referred to as ovarian ageing. The age related
decrease in follicle numbers dictates the onset of cycle irregularity and the final cessation of …

Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum

EJ Tucker, SR Grover, A Bachelot, P Touraine… - Endocrine …, 2016 - academic.oup.com
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance

D Schmidt, CE Ovitt, K Anlag, S Fehsenfeld, L Gredsted… - 2004 - journals.biologists.com
Human Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) type I is an
autosomal dominant disorder associated with premature ovarian failure (POF) caused by …

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

L Crisponi, M Deiana, A Loi, F Chiappe, M Uda… - Nature …, 2001 - nature.com
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid
abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid …

Premature ovarian failure

D Goswami, GS Conway - Human reproduction update, 2005 - academic.oup.com
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 …

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

M Uda, C Ottolenghi, L Crisponi… - Human molecular …, 2004 - academic.oup.com
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women,
as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis–ptosis …

Genetic dissection of mammalian fertility pathways

MM Matzuk, DJ Lamb - Nature Medicine, 2002 - nature.com
The world's population is increasing at an alarming rate and is projected to reach nine billion
by 2050. Despite this, 15% of couples world-wide remain childless because of infertility. Few …

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

E Di Pasquale, P Beck-Peccoz, L Persani - The American Journal of …, 2004 - cell.com
Hypergonadotropic ovarian failure is a common cause of female infertility. It is a
heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis …

Premature ovarian failure

P Beck-Peccoz, L Persani - Orphanet journal of rare diseases, 2006 - Springer
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent
menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of …