Associated Papers
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
Krepelova A et al.
Clinical & Experimental Ophthalmology, 2016
Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.
Todeschini AL et al.
Human Molecular Genetics, 2011
Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.
Dipietromaria A et al.
Human Molecular Genetics, 2009
The transcription factor FOXL2 in ovarian function and dysfunction.
De Baere E et al.
Folia Histochemica Et Cytobiologica, 2009
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
Nallathambi J et al.
Human Mutation, 2008
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
Beysen D et al.
Human Molecular Genetics, 2008
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Or SF et al.
Chinese Medical Journal, 2006
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