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Items: 1 to 20 of 194

1.

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
2.

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ.

Mutagenesis. 2011 Mar;26(2):283-9. doi: 10.1093/mutage/geq086. Epub 2010 Nov 10.

PMID:
21068205
3.

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.

4.

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. Epub 2013 Feb 20.

5.

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
6.

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. Epub 2006 Jan 4.

PMID:
16394030
7.

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
8.

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
9.

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.

10.

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
11.

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
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 MJ.

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

PMID:
21934608
13.
14.

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. doi: 10.1136/bjo.2009.177972. Epub 2011 Feb 16.

PMID:
21325395
15.
16.

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.

PMID:
14986827
17.

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E.

Hum Mol Genet. 2008 Jul 1;17(13):2030-8. doi: 10.1093/hmg/ddn100. Epub 2008 Mar 27.

PMID:
18372316
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. doi: 10.1089/gtmb.2008.0121.

PMID:
19371227
19.

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
20.

Discovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles.

L'Hôte D, Georges A, Todeschini AL, Kim JH, Benayoun BA, Bae J, Veitia RA.

Hum Mol Genet. 2012 Jul 15;21(14):3264-74. doi: 10.1093/hmg/dds170. Epub 2012 Apr 27.

PMID:
22544055

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