186 related articles for article (PubMed ID: 32454486)
21. Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.
Kim JH; Bae J
J Reprod Dev; 2014 Mar; 60(1):14-20. PubMed ID: 24240106
[TBL] [Abstract][Full Text] [Related]
22. A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.
Corrêa FJ; Tavares AB; Pereira RW; Abrão MS
Fertil Steril; 2010 Feb; 93(3):1006.e3-6. PubMed ID: 19969293
[TBL] [Abstract][Full Text] [Related]
23. A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F; Chai P; Fan J; Wang X; Lu W; Li J; Ge S; Jia R; Zhang H; Fan X
Cell Physiol Biochem; 2018; 45(1):203-211. PubMed ID: 29339661
[TBL] [Abstract][Full Text] [Related]
24. Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With
Meng T; Zhang W; Zhang R; Li J; Gao Y; Qin Y; Jiao X
Front Endocrinol (Lausanne); 2022; 13():829153. PubMed ID: 35574016
[TBL] [Abstract][Full Text] [Related]
25. Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
Xue M; Zheng J; Zhou Q; Hejtmancik JF; Wang Y; Li S
BMC Med Genet; 2015 Sep; 16():73. PubMed ID: 26323275
[TBL] [Abstract][Full Text] [Related]
26. [Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
Qi YH; Li Y; Lin H; Jia HY; Su H; Gu JZ; Huang SZ; Liu YP
Zhonghua Yan Ke Za Zhi; 2006 May; 42(5):409-14. PubMed ID: 16762234
[TBL] [Abstract][Full Text] [Related]
27. The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.
Fan J; Zhou Y; Huang X; Zhang L; Yao Y; Song X; Chen J; Hu J; Ge S; Song H; Fan X
Hum Reprod; 2012 Nov; 27(11):3347-57. PubMed ID: 22926839
[TBL] [Abstract][Full Text] [Related]
28. Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Li D; Zeng W; Tao J; Li S; Liang C; Chen X; Mu W; Wang X; Qin Y; Jie Y; Wei W
Genet Test Mol Biomarkers; 2009 Apr; 13(2):257-68. PubMed ID: 19371227
[TBL] [Abstract][Full Text] [Related]
29. 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; Chen ZJ; Yang H; Ding XR; Li J; Pan AP; Sun HS; Yu AY; Chen SH
BMC Ophthalmol; 2023 Nov; 23(1):446. PubMed ID: 37932670
[TBL] [Abstract][Full Text] [Related]
30. Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Tang S; Wang X; Lin L; Sun Y; Wang Y; Yu H
Mutagenesis; 2006 Jan; 21(1):35-9. PubMed ID: 16394030
[TBL] [Abstract][Full Text] [Related]
31. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.
Fokstuen S; Antonarakis SE; Blouin JL
Am J Med Genet A; 2003 Mar; 117A(2):143-6. PubMed ID: 12567411
[TBL] [Abstract][Full Text] [Related]
32. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.
Raile K; Stobbe H; Tröbs RB; Kiess W; Pfäffle R
Eur J Endocrinol; 2005 Sep; 153(3):353-8. PubMed ID: 16131596
[TBL] [Abstract][Full Text] [Related]
33. Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.
Kaur I; Hussain A; Naik MN; Murthy R; Honavar SG
Br J Ophthalmol; 2011 Jun; 95(6):881-6. PubMed ID: 21325395
[TBL] [Abstract][Full Text] [Related]
34. [The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].
Tang SJ; Wang XK; Wang YL; Lin LX; Sun Y
Zhonghua Zheng Xing Wai Ke Za Zhi; 2007 Jan; 23(1):48-50. PubMed ID: 17393695
[TBL] [Abstract][Full Text] [Related]
35. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
Dollfus H; Stoetzel C; Riehm S; Lahlou Boukoffa W; Bediard Boulaneb F; Quillet R; Abu-Eid M; Speeg-Schatz C; Francfort JJ; Flament J; Veillon F; Perrin-Schmitt F
Clin Genet; 2003 Feb; 63(2):117-20. PubMed ID: 12630957
[TBL] [Abstract][Full Text] [Related]
36. FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
Lin WD; Chou IC; Lee NC; Wang CH; Hwu WL; Lin SP; Chao MC; Tsai Y; Tsai FJ
Clin Chem Lab Med; 2010 Apr; 48(4):485-8. PubMed ID: 20184535
[TBL] [Abstract][Full Text] [Related]
37. The human FOXL2 mutation database.
Beysen D; Vandesompele J; Messiaen L; De Paepe A; De Baere E
Hum Mutat; 2004 Sep; 24(3):189-93. PubMed ID: 15300845
[TBL] [Abstract][Full Text] [Related]
38. Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.
Bunyan DJ; Thomas NS
Eur J Med Genet; 2019 Jul; 62(7):103668. PubMed ID: 31077882
[TBL] [Abstract][Full Text] [Related]
39. Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
Krepelova A; Simandlova M; Vlckova M; Kuthan P; Vincent AL; Liskova P
Clin Exp Ophthalmol; 2016 Dec; 44(9):757-762. PubMed ID: 27283035
[TBL] [Abstract][Full Text] [Related]
40. FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
Fan JY; Wang YF; Han B; Ji YR; Song HD; Fan XQ
Transl Res; 2011 Jan; 157(1):48-52. PubMed ID: 21146150
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
