The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients

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

Forkhead transcription factors: key players in health and disease

(2011) Bérénice A. Benayoun et al.   TRENDS IN GENETICS

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

(2010) J.-Y. Fan et al.   MUTAGENESIS

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)

(2010) Jia-Yan Fan et al.   Translational Research

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

(2009) P Laissue et al.   JOURNAL OF MEDICAL GENETICS

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

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

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

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients

(2008) Jeyabalan Nallathambi et al.   HUMAN MUTATION

FOXL2mutations and genomic rearrangements in BPES

(2008) Diane Beysen et al.   HUMAN MUTATION