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Items: 1 to 20 of 183

1.

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. doi: 10.1097/GME.0000000000000473.

PMID:
25988799
2.

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.

Corrêa FJ, Tavares AB, Pereira RW, Abrão MS.

Fertil Steril. 2010 Feb;93(3):1006.e3-6. doi: 10.1016/j.fertnstert.2009.08.034. Epub 2009 Dec 6.

PMID:
19969293
3.

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. doi: 10.1002/mgg3.366. Epub 2018 Jan 29.

4.

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. doi: 10.1111/ceo.12783. Epub 2016 Jul 1.

PMID:
27283035
5.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F.

J Endocrinol Invest. 2016 Feb;39(2):227-33. doi: 10.1007/s40618-015-0334-3. Epub 2015 Jun 23.

PMID:
26100530
6.

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 1;16:73. doi: 10.1186/s12881-015-0217-7.

7.

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 MJ.

Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1.

PMID:
21934608
8.

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. doi: 10.1016/j.ejmg.2014.08.004. Epub 2014 Sep 2.

PMID:
25192944
9.

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 20;706:62-68. doi: 10.1016/j.gene.2019.04.073. Epub 2019 Apr 29.

PMID:
31048069
10.

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. doi: 10.1089/gtmb.2009.0091.

PMID:
19929410
11.

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. doi: 10.1093/humrep/des306. Epub 2012 Aug 27.

PMID:
22926839
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. doi: 10.3892/mmr.2017.7226. Epub 2017 Aug 10.

PMID:
28849110
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 15;10(15):1591-600.

PMID:
11468277
15.

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. Epub 2012 Jan 26.

16.

A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I.

Martinez-Aguayo A, Poggi H, Cattani A, Molina M, Romeo E, Lagos M.

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):181-4. doi: 10.1515/jpem-2013-0219.

PMID:
24030029
17.

Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).

Kumar A, Babu M, Raghunath A, Venkatesh CP.

Mol Vis. 2004 Jul 9;10:445-9.

18.

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 Jul 18;13(8):1019-1028. doi: 10.7150/ijbs.19532. eCollection 2017.

19.
20.

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. doi: 10.1093/mutage/gep028. Epub 2009 Jul 10.

PMID:
19592504

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