Associated Papers
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Lin ZB et al.
Bmc Ophthalmology, 2023
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
Zhou L et al.
Bmc Medical Genetics, 2018
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.
Duarte AF et al.
Ophthalmology, 2017
FOXL2 impairment in human disease.
Verdin H et al.
Hormone Research in Paediatrics, 2012
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.
Haghighi A et al.
Molecular Vision, 2012
Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.
Dipietromaria A et al.
Human Molecular Genetics, 2009
FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.
Xu Y et al.
Mutagenesis, 2009
Association of reproductive performance with SNPs of FOXL2 gene by SSCP in Japanese flounder (Paralichthys olivaceus).
Shi B et al.
Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology, 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
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang J et al.
Molecular Vision, 2007
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