Characterization of endocrine features and genotype–phenotypes correlations in blepharophimosis–ptosis–epicanthus inversus syndrome type 1

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

(2012) Kamilla Schlade-Bartusiak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FOXL2 Impairment in Human Disease

(2012) Hannah Verdin et al.   Hormone Research in Paediatrics

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations

(2011) Anne-Laure Todeschini et al.   HUMAN MOLECULAR GENETICS

Mutation analysis ofFOXL2gene in Chinese patients with premature ovarian failure

(2010) Feng Ni et al.   GYNECOLOGICAL ENDOCRINOLOGY

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

A Novel Role for the Forkhead Transcription Factor FOXL2 in Activin A-Regulated Follicle-Stimulating Hormone β Subunit Transcription

(2009) Pankaj Lamba et al.   MOLECULAR ENDOCRINOLOGY

Primary Ovarian Insufficiency

(2009) Lawrence M. Nelson   NEW ENGLAND JOURNAL OF MEDICINE

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

(2008) Diane Beysen et al.   HUMAN MOLECULAR GENETICS

Identification of 34 novel and 56 knownFOXL2mutations in patients with blepharophimosis syndrome

(2008) Diane Beysen et al.   HUMAN MUTATION

FoxL2 and Smad3 Coordinately Regulate Follistatin Gene Transcription

(2008) Amy L. Blount et al.   JOURNAL OF BIOLOGICAL CHEMISTRY