175 related articles for article (PubMed ID: 21321671)
1. Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Hu S; Guo J; Wang B; Wang J; Zhou Z; Zhou G; Ding X; Ma X; Qi Y
Mol Vis; 2011 Feb; 17():436-42. PubMed ID: 21321671
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.
Chacón-Camacho OF; Salgado-Medina A; Alcaraz-Lares N; López-Moreno D; Barragán-Arévalo T; Nava-Castañeda A; Rodríguez-Uribe G; Lieberman E; Rodríguez-Cabrera L; González-Del Angel A; Borbolla AM; Fernández-Hernández L; Graue-Hernández EO; Zenteno JC
Gene; 2019 Jul; 706():62-68. PubMed ID: 31048069
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Cha SC; Jang YS; Lee JH; Kim HK; Kim SC; Kim S; Baek SH; Jung WS; Kim JR
Clin Genet; 2003 Dec; 64(6):485-90. PubMed ID: 14986827
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.
Zahanova S; Meaney B; Łabieniec B; Verdin H; De Baere E; Nowaczyk MJM
Clin Dysmorphol; 2012 Jan; 21(1):48-52. PubMed ID: 21934608
[TBL] [Abstract][Full Text] [Related]
11. Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.
Yang XW; He WB; Gong F; Li W; Li XR; Zhong CG; Lu GX; Lin G; Du J; Tan YQ
Mol Genet Genomic Med; 2018 Mar; 6(2):261-267. PubMed ID: 29378385
[TBL] [Abstract][Full Text] [Related]
12. Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.
Alao MJ; Lalèyè A; Lalya F; Hans Ch; Abramovicz M; Morice-Picard F; Arveiler B; Lacombe D; Rooryck C
Eur J Med Genet; 2012 Nov; 55(11):630-4. PubMed ID: 22906557
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Yu HC; Geiger EA; Medne L; Zackai EH; Shaikh TH
Am J Med Genet A; 2014 Apr; 164A(4):950-7. PubMed ID: 24458743
[TBL] [Abstract][Full Text] [Related]
17. [Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
Ye J; Shi X; He JJ; Zhang HN
Zhonghua Yan Ke Za Zhi; 2011 Nov; 47(11):1007-11. PubMed ID: 22336067
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [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]
[Next] [New Search]
