Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   HUMAN REPRODUCTION

Impact of FOXL2 mutations on signaling in ovarian granulosa cell tumors

(2016) Dilys T.H. Leung et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

SIRT1 signalling protects mouse oocytes against oxidative stress and is deregulated during aging

(2014) Giovanna Di Emidio et al.   HUMAN REPRODUCTION

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

FOXL2: a central transcription factor of the ovary

(2013) Adrien Georges et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Mutation spectrum of Fork-Head Transcriptional Factor Gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients

(2011) I. Kaur et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems

(2009) Aurélie Dipietromaria et al.   HUMAN MOLECULAR GENETICS

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

(2009) G. Meduri et al.   HUMAN REPRODUCTION

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

(2008) Bérénice A. Benayoun et al.   HUMAN MOLECULAR GENETICS