1.Oley C, Baraitser M: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). Journal of medical genetics 1988, 25(1):47–51.
2.Beaconsfield M, Walker JW, Collin JR: Visual development in the blepharophimosis syndrome. The British journal of ophthalmology 1991, 75(12):746–748.
3.Bertho S, Pasquier J, Pan Q, Le Trionnaire G, Bobe J, Postlethwait JH, Pailhoux E, Schartl M, Herpin A, Guiguen Y: Foxl2 and Its Relatives Are Evolutionary Conserved Players in Gonadal Sex Differentiation. Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016, 10(3):111–129.
4.Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S et al: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001, 27(2):159–166.
5.Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ: Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Mutagenesis 2011, 26(2):283–289.
6.Gulati R, Verdin H, Halanaik D, Bhat BV, De Baere E: Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). European journal of medical genetics 2014, 57(10):576–578.
7.Sacchi S, Marinaro F, Xella S, Marsella T, Tagliasacchi D, La Marca A: The anti-Mullerian hormone (AMH) induces forkhead box L2 (FOXL2) expression in primary culture of human granulosa cells in vitro. Journal of assisted reproduction and genetics 2017, 34(9):1131–1136.
8.Kaur I, Hussain A, Naik MN, Murthy R, Honavar SG: Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. The British journal of ophthalmology 2011, 95(6):881–886.
9.Shah SP, Kobel M, Senz J, Morin RD, Clarke BA, Wiegand KC, Leung G, Zayed A, Mehl E, Kalloger SE et al: Mutation of FOXL2 in granulosa-cell tumors of the ovary. The New England journal of medicine 2009, 360(26):2719–2729.
10.Moumne L, Batista F, Benayoun BA, Nallathambi J, Fellous M, Sundaresan P, Veitia RA: The mutations and potential targets of the forkhead transcription factor FOXL2. Molecular and cellular endocrinology 2008, 282(1–2):2–11.
11.Kuo FT, Bentsi-Barnes IK, Barlow GM, Pisarska MD: 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. Endocrinology 2011, 152(10):3917–3929.
12.Lu W, Zheng X, Liu S, Ding M, Xie J, Yao X, Zhang L, Hu B: SNP rs1511412 in FOXL2 gene as a risk factor for keloid by meta analysis. International journal of clinical and experimental medicine 2015, 8(2):2766–2771.
13.Men Y, Fan Y, Shen Y, Lu L, Kallen AN: The Steroidogenic Acute Regulatory Protein (StAR) Is Regulated by the H19/let–7 Axis. Endocrinology 2017, 158(2):402–409.
14.Moumne L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, Veitia RA: Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development. Human molecular genetics 2008, 17(7):1010–1019.
15.Han Y, Wang T, Sun S, Zhai Z, Tang S: Cloning of the promoter region of a human gene, FOXL2, and its regulation by STAT3. Molecular medicine reports 2017, 16(3):2856–2862.
16.Chai P, Li F, Fan J, Jia R, Zhang H, Fan X: Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. International journal of biological sciences 2017, 13(8):1019–1028.
17.Zhou L, Wang J, Wang T: Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. BMC medical genetics 2018, 19(1):121.
18.Verdin H, De Baere E: FOXL2 impairment in human disease. Hormone research in paediatrics 2012, 77(1):2–11.
19.Rosen ER, Kushner DM, Mahajan AM, King CR: Cancer overturned: Endometrioma mimicking granulosa cell tumor and the importance of FOXL2 analysis. Gynecologic oncology reports 2019, 27:8–10.
20.Nakashima M, Chung S, Takahashi A, Kamatani N, Kawaguchi T, Tsunoda T, Hosono N, Kubo M, Nakamura Y, Zembutsu H: A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. Nat Genet 2010, 42(9):768–771.
21.Georges A, Auguste A, Bessiere L, Vanet A, Todeschini AL, Veitia RA: FOXL2: a central transcription factor of the ovary. Journal of molecular endocrinology 2014, 52(1):R17–33.
22.Yang Y, Yang C, Zhu Y, Chen H, Zhao R, He X, Tao L, Wang P, Zhou L, Zhao L et al: Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation. Genomics 2014, 104(3):170–176.
23.Benayoun BA, Georges AB, L’Hote D, Andersson N, Dipietromaria A, Todeschini AL, Caburet S, Bazin C, Anttonen M, Veitia RA: Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase. Human molecular genetics 2011, 20(9):1673–1686.
24.Beysen D, De Paepe A, De Baere E: FOXL2 mutations and genomic rearrangements in BPES. Human mutation 2009, 30(2):158–169.
25.De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP et al: FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. American journal of human genetics 2003, 72(2):478–487.
26.Lin B, Zeng B, Zhao J, Xu T, Wang Y, Hu B, Li F, Zhao Q, Liu R, Liu J et al: Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome. Current molecular medicine 2018, 18(3):152–159.
27.Bellessort B, Bachelot A, Heude E, Alfama G, Fontaine A, Le Cardinal M, Treier M, Levi G: Role of Foxl2 in uterine maturation and function. Human molecular genetics 2015, 24(11):3092–3103.