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Items: 1 to 20 of 117

1.

Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.

Moumné L, Fellous M, Veitia RA.

Hum Mol Genet. 2005 Dec 1;14(23):3557-64. Epub 2005 Oct 11.

PMID:
16219626
2.

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
3.

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
4.

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.

Caburet S, Demarez A, Moumné L, Fellous M, De Baere E, Veitia RA.

J Med Genet. 2004 Dec;41(12):932-6.

5.

The mutations and potential targets of the forkhead transcription factor FOXL2.

Moumné L, Batista F, Benayoun BA, Nallathambi J, Fellous M, Sundaresan P, Veitia RA.

Mol Cell Endocrinol. 2008 Jan 30;282(1-2):2-11. Epub 2007 Nov 19. Review.

PMID:
18155828
6.

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development.

Moumné L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, Veitia RA.

Hum Mol Genet. 2008 Apr 1;17(7):1010-9. Epub 2007 Dec 24.

PMID:
18158309
7.

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
8.

A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Li WX, Wang XK, Sun Y, Wang YL, Lin LX, Tang SJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):372-5.

PMID:
16086270
9.

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
10.

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA.

Hum Genet. 2007 Mar;121(1):107-12. Epub 2006 Nov 7.

PMID:
17089161
11.
12.

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A, Benayoun BA, Todeschini AL, Rivals I, Bazin C, Veitia RA.

Hum Mol Genet. 2009 Sep 1;18(17):3324-33. doi: 10.1093/hmg/ddp273. Epub 2009 Jun 10.

PMID:
19515849
13.

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
14.

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
15.

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.

Watkins WJ, Harris SE, Craven MJ, Vincent AL, Winship IM, Gersak K, Shelling AN.

Mol Hum Reprod. 2006 Mar;12(3):145-9. Epub 2006 Feb 15.

PMID:
16481406
16.

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. Review.

PMID:
16208278
17.

A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.

Qian X, Shu A, Qin W, Xing Q, Gao J, Yang J, Feng G, He L.

Mutat Res. 2004 Oct 4;554(1-2):19-22.

PMID:
15450400
18.

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.

Méduri G, Bachelot A, Duflos C, Bständig B, Poirot C, Genestie C, Veitia R, De Baere E, Touraine P.

Hum Reprod. 2010 Jan;25(1):235-43. doi: 10.1093/humrep/dep355. Epub 2009 Oct 9.

PMID:
19819892
19.

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E.

Hum Mutat. 2004 Sep;24(3):189-93.

PMID:
15300845
20.

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saâd A, Sultan C, Fellous M, Veitia RA.

J Med Genet. 2009 Jul;46(7):455-7. doi: 10.1136/jmg.2008.065086. Epub 2009 May 7.

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