133 related articles for article (PubMed ID: 37938073)
1. 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]
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. 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]
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. 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]
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. 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]
8. 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]
9. 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]
10. 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]
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 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]
13. 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]
14. [Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome].
Cheng H; Wang T; Wang G; Wang J; Shen L; Han M; Yang S; Shi Y; Wang W; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):515-517. PubMed ID: 30098246
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report.
Grzechocińska B; Warzecha D; Wypchło M; Ploski R; Wielgoś M
BMC Med Genet; 2019 Jul; 20(1):132. PubMed ID: 31366388
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A Novel Forkhead Box L2 Missense Mutation, c.1068G>C, in a Chinese Family With Blepharophimosis/Ptosis/ Epicanthus Inversus Syndrome.
Wang S; Ge S; Zhuang A
J Craniofac Surg; 2022 May; 33(3):e238-e240. PubMed ID: 34374675
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. 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]
[Next] [New Search]
