257 related articles for article (PubMed ID: 31048069)
21. 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]
22. 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]
23. Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P; Verebi C; Hervé B; Perol S; Chakhtoura Z; Courtillot C; Bachelot A; Karila D; Renard C; Grouthier V; de la Croix SM; Bernard V; Fouveaut C; de la Perrière AB; Jonard-Catteau S; Touraine P; Plu-Bureau G; Dupont JM; Christin-Maitre S; Bienvenu T
Clin Genet; 2024 Jul; 106(1):102-108. PubMed ID: 38558253
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Genomic Disruption of
Niu BB; Tang N; Xu Q; Chai PW
Chin Med J (Engl); 2018 Oct; 131(19):2380-2383. PubMed ID: 30246734
[No Abstract] [Full Text] [Related]
27. 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]
28. 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]
29. Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.
Duarte AF; Akaishi PM; de Molfetta GA; Chodraui-Filho S; Cintra M; Toscano A; Silva WA; Cruz AA
Ophthalmology; 2017 Mar; 124(3):399-406. PubMed ID: 27914838
[TBL] [Abstract][Full Text] [Related]
30. [Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome].
Yang X; Li W; Du J; Yuan S; He W; Zhang Q; Zhong C; Lu G; Tan Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):342-346. PubMed ID: 28604951
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
De Baere E; Copelli S; Caburet S; Laissue P; Beysen D; Christin-Maitre S; Bouchard P; Veitia R; Fellous M
Pediatr Endocrinol Rev; 2005 Jun; 2(4):653-60. PubMed ID: 16208278
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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]
38. A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.
Settas N; Anapliotou M; Kanavakis E; Fryssira H; Sofocleous C; Dacou-Voutetakis C; Chrousos GP; Voutetakis A
Menopause; 2015 Nov; 22(11):1264-8. PubMed ID: 25988799
[TBL] [Abstract][Full Text] [Related]
39. Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.
Heude É; Bellessort B; Fontaine A; Hamazaki M; Treier AC; Treier M; Levi G; Narboux-Nême N
Hum Mol Genet; 2015 Mar; 24(6):1670-81. PubMed ID: 25416281
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
