Associated Papers
The Genetics and Biology of FOXL2.
Tucker EJ
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.
Meng T et al.
Frontiers in Endocrinology, 2022
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
FOXL2: at the crossroads of female sex determination and ovarian function.
Benayoun BA et al.
Advances in Experimental Medicine and Biology, 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
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E et al.
American Journal of Human Genetics, 2003
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