148 related articles for article (PubMed ID: 19371227)
1. 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]
2. 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; Lei H; Dong H; Zhang L; Qin Q; Gao J; Zou Y; Yan X
Mutagenesis; 2009 Sep; 24(5):447-53. PubMed ID: 19592504
[TBL] [Abstract][Full Text] [Related]
3. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E; Dixon MJ; Small KW; Jabs EW; Leroy BP; Devriendt K; Gillerot Y; Mortier G; Meire F; Van Maldergem L; Courtens W; Hjalgrim H; Huang S; Liebaers I; Van Regemorter N; Touraine P; Praphanphoj V; Verloes A; Udar N; Yellore V; Chalukya M; Yelchits S; De Paepe A; Kuttenn F; Fellous M; Veitia R; Messiaen L
Hum Mol Genet; 2001 Jul; 10(15):1591-600. PubMed ID: 11468277
[TBL] [Abstract][Full Text] [Related]
4. FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang J; Liu J; Zhang Q
Mol Vis; 2007 Jan; 13():108-13. PubMed ID: 17277738
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.
Li H; Gu Y
Genet Test Mol Biomarkers; 2018 Oct; 22(10):585-592. PubMed ID: 30234390
[TBL] [Abstract][Full Text] [Related]
7. Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
Zhou L; Wang J; Wang T
BMC Med Genet; 2018 Jul; 19(1):121. PubMed ID: 30029625
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Chai P; Li F; Fan J; Jia R; Zhang H; Fan X
Int J Biol Sci; 2017; 13(8):1019-1028. PubMed ID: 28924383
[No Abstract] [Full Text] [Related]
11. [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]
12. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.
Haghighi A; Verdin H; Haghighi-Kakhki H; Piri N; Gohari NS; De Baere E
Mol Vis; 2012; 18():211-8. PubMed ID: 22312189
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Fan JY; Han B; Qiao J; Liu BL; Ji YR; Ge SF; Song HD; Fan XQ
Mutagenesis; 2011 Mar; 26(2):283-9. PubMed ID: 21068205
[TBL] [Abstract][Full Text] [Related]
15. Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome.
Jiang H; Huang X; Su Z; Rao L; Wu S; Zhang T; Li K; Quan Q; Zhang K
Mol Vis; 2013; 19():418-23. PubMed ID: 23441113
[TBL] [Abstract][Full Text] [Related]
16. Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.
Shen Q; Zhao X; Ji Y; Chai P
J Craniofac Surg; 2024 Jan-Feb 01; 35(1):e52-e56. PubMed ID: 37938073
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family.
Chouchene I; Derouiche K; Chaabouni A; Cherif L; Amouri A; Largueche L; Abdelhak S; El Matri L
Genet Test Mol Biomarkers; 2010 Feb; 14(1):145-8. PubMed ID: 19929410
[TBL] [Abstract][Full Text] [Related]
18. A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Hu J; Ke H; Luo W; Yang Y; Liu H; Li G; Qin Y; Ma J; Zhao S
J Assist Reprod Genet; 2020 Jan; 37(1):223-229. PubMed ID: 31823134
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.
Li WX; Wang XK; Sun Y; Wang YL; Lin LX; Tang SJ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):372-5. PubMed ID: 16086270
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.
Yang L; Li T; Xing Y
Mol Med Rep; 2017 Oct; 16(4):5529-5532. PubMed ID: 28849110
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
