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Results: 1 to 20 of 81

1.

Foxl-2 in gonad development and pathology.

Jaubert F, Galmiche L, Lortat-Jacob S, Fournet JC, Fellous M.

Arkh Patol. 2011 Jul-Aug;73(4):10-3. Review.

PMID:
22164424
[PubMed - indexed for MEDLINE]
2.

FOXL2 impairment in human disease.

Verdin H, De Baere E.

Horm Res Paediatr. 2012;77(1):2-11. doi: 10.1159/000335236. Epub 2012 Jan 12. Review.

PMID:
22248822
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency.

Bouhali K, Dipietromaria A, Fontaine A, Caburet S, Barbieri O, Bellessort B, Fellous M, Veitia RA, Levi G.

Hum Mol Genet. 2011 Jul 1;20(13):2642-50. doi: 10.1093/hmg/ddr166. Epub 2011 Apr 19.

PMID:
21505076
[PubMed - indexed for MEDLINE]
Free Article
5.

LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity.

Pisarska MD, Kuo FT, Bentsi-Barnes IK, Khan S, Barlow GM.

Am J Physiol Endocrinol Metab. 2010 Jul;299(1):E101-9. doi: 10.1152/ajpendo.00534.2009. Epub 2010 Apr 20.

PMID:
20407010
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD).

Hersmus R, Kalfa N, de Leeuw B, Stoop H, Oosterhuis JW, de Krijger R, Wolffenbuttel KP, Drop SL, Veitia RA, Fellous M, Jaubert F, Looijenga LH.

J Pathol. 2008 May;215(1):31-8. doi: 10.1002/path.2335.

PMID:
18348162
[PubMed - indexed for MEDLINE]
8.

The FOXL2 C134W mutation is characteristic of adult granulosa cell tumors of the ovary.

Jamieson S, Butzow R, Andersson N, Alexiadis M, Unkila-Kallio L, Heikinheimo M, Fuller PJ, Anttonen M.

Mod Pathol. 2010 Nov;23(11):1477-85. doi: 10.1038/modpathol.2010.145. Epub 2010 Aug 6.

PMID:
20693978
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
Free Article
10.

Tumor risk in disorders of sex development (DSD).

Looijenga LH, Hersmus R, Oosterhuis JW, Cools M, Drop SL, Wolffenbuttel KP.

Best Pract Res Clin Endocrinol Metab. 2007 Sep;21(3):480-95. Review.

PMID:
17875493
[PubMed - indexed for MEDLINE]
11.

Neoplastic potential of germ cells in relation to disturbances of gonadal organogenesis and changes in karyotype.

Słowikowska-Hilczer J, Romer TE, Kula K.

J Androl. 2003 Mar-Apr;24(2):270-8.

PMID:
12634315
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
Free Article
18.

Mutational analysis (c.402C>G) of the FOXL2 gene and immunohistochemical expression of the FOXL2 protein in testicular adult type granulosa cell tumors and incompletely differentiated sex cord stromal tumors.

Hes O, Vaněček T, Petersson F, Grossmann P, Hora M, Perez Montiel DM, Steiner P, Dvořák M, Michal M.

Appl Immunohistochem Mol Morphol. 2011 Jul;19(4):347-51. doi: 10.1097/PAI.0b013e3182039ef2.

PMID:
21293260
[PubMed - indexed for MEDLINE]
19.

The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma.

Hertel JD, Huettner PC, Dehner LP, Pfeifer JD.

Hum Pathol. 2010 Nov;41(11):1544-9. doi: 10.1016/j.humpath.2010.04.007. Epub 2010 Jul 24.

PMID:
20656323
[PubMed - indexed for MEDLINE]
20.

Mutation of FOXL2 in granulosa-cell tumors of the ovary.

Shah SP, Köbel M, Senz J, Morin RD, Clarke BA, Wiegand KC, Leung G, Zayed A, Mehl E, Kalloger SE, Sun M, Giuliany R, Yorida E, Jones S, Varhol R, Swenerton KD, Miller D, Clement PB, Crane C, Madore J, Provencher D, Leung P, DeFazio A, Khattra J, Turashvili G, Zhao Y, Zeng T, Glover JN, Vanderhyden B, Zhao C, Parkinson CA, Jimenez-Linan M, Bowtell DD, Mes-Masson AM, Brenton JD, Aparicio SA, Boyd N, Hirst M, Gilks CB, Marra M, Huntsman DG.

N Engl J Med. 2009 Jun 25;360(26):2719-29. doi: 10.1056/NEJMoa0902542. Epub 2009 Jun 10.

PMID:
19516027
[PubMed - indexed for MEDLINE]
Free Article

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