163 related articles for article (PubMed ID: 33882191)
1. "Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis.
Landau Prat D; Nguyen BJ; Strong A; Katowitz WR; Katowitz JA
Clin Exp Ophthalmol; 2021 Jul; 49(5):448-453. PubMed ID: 33882191
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. [Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].
Zhou ZM; Liang DS; Quan Y; Xue JJ; Li HY; Xia XB; Wu LQ
Zhonghua Yan Ke Za Zhi; 2010 Jun; 46(6):532-6. PubMed ID: 21055199
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Gulati R; Verdin H; Halanaik D; Bhat BV; De Baere E
Eur J Med Genet; 2014 Oct; 57(10):576-8. PubMed ID: 25192944
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
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. 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]
15. 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]
16. Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Castets S; Roucher-Boulez F; Saveanu A; Mallet-Motak D; Chabre O; Amati-Bonneau P; Bonneau D; Girardin C; Morel Y; Villanueva C; Brue T; Reynaud R; Nicolino M
Horm Res Paediatr; 2020; 93(1):30-39. PubMed ID: 32454486
[TBL] [Abstract][Full Text] [Related]
17. Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome.
Lin B; Zeng B; Zhao J; Xu T; Wang Y; Hu B; Li F; Zhao Q; Liu R; Liu J; Chen JM; Huang D; Wang Y
Curr Mol Med; 2018; 18(3):152-159. PubMed ID: 30198434
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [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]
[Next] [New Search]