Associated Papers
Report of two patients in whom comparisons of the somatic mutation profile were useful for the diagnosis of metastatic tumors.
Furukawa K et al.
Surgical Case Reports, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
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
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C et al.
Genes, 2021
The Emerging Role of FOXL2 in Regulating the Transcriptional Activation Function of Estrogen Receptor β: An Insight Into Ovarian Folliculogenesis.
Hirano M et al.
Reproductive Sciences (thousand Oaks, Calif.), 2017
Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.
Kim JH et al.
The Journal of Reproduction and Development, 2014
[Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
Ye J et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2011
Mutant Forkhead L2 (FOXL2) proteins associated with premature ovarian failure (POF) dimerize with wild-type FOXL2, leading to altered regulation of genes associated with granulosa cell differentiation.
Kuo FT et al.
Endocrinology, 2011
Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2.
Bentsi-Barnes IK et al.
Fertility and Sterility, 2010
Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.
Dipietromaria A et al.
Human Molecular Genetics, 2009
FOXL2 mutations and genomic rearrangements in BPES.
Beysen D et al.
Human Mutation, 2009
The transcription factor FOXL2 in ovarian function and dysfunction.
De Baere E et al.
Folia Histochemica Et Cytobiologica, 2009
[Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome].
Lin LX et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007
[The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].
Tang SJ et al.
Zhonghua Zheng Xing Wai Ke Za Zhi = Zhonghua Zhengxing Waike Zazhi = Chinese Journal of Plastic Surgery, 2007
[Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
Qi YH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2006
Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Tang S et al.
Mutagenesis, 2006
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.
Li WX et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
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
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.
Kosaki K et al.
Ophthalmic Genetics, 2002
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Crisponi L et al.
Nature Genetics, 2001