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Results: 1 to 20 of 118

Similar articles for PubMed (Select 20232352)

1.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E.

Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233.

PMID:
20232352
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.

3.

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
4.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E.

Am J Hum Genet. 2005 Aug;77(2):205-18. Epub 2005 Jun 16.

5.

FOXL2 mutations and genomic rearrangements in BPES.

Beysen D, De Paepe A, De Baere E.

Hum Mutat. 2009 Feb;30(2):158-69. doi: 10.1002/humu.20807. Review.

PMID:
18726931
6.

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L.

Am J Hum Genet. 2003 Feb;72(2):478-87. Epub 2003 Jan 14.

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.

8.

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
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.

10.

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
11.

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E.

Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819.

PMID:
18642388
12.

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).

Fan JY, Wang YF, Han B, Ji YR, Song HD, Fan XQ.

Transl Res. 2011 Jan;157(1):48-52. doi: 10.1016/j.trsl.2010.08.005. Epub 2010 Sep 8.

PMID:
21146150
13.

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
14.

[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. Chinese.

PMID:
21055199
16.

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. doi: 10.1515/CCLM.2010.100.

PMID:
20184535
17.

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
18.

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
19.

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.

20.

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.

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