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Page 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. D'haene B, et al. Among authors: de paepe a, de baere e. Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233. Hum Mutat. 2010. PMID: 20232352
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. De Baere E, et al. Among authors: de paepe a. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
Evolution and expression of FOXL2.
Cocquet J, Pailhoux E, Jaubert F, Servel N, Xia X, Pannetier M, De Baere E, Messiaen L, Cotinot C, Fellous M, Veitia RA. Cocquet J, et al. Among authors: de baere e. J Med Genet. 2002 Dec;39(12):916-21. doi: 10.1136/jmg.39.12.916. J Med Genet. 2002. PMID: 12471206 Free PMC article. No abstract available.
Structure, evolution and expression of the FOXL2 transcription unit.
Cocquet J, De Baere E, Gareil M, Pannetier M, Xia X, Fellous M, Veitia RA. Cocquet J, et al. Among authors: de baere e. Cytogenet Genome Res. 2003;101(3-4):206-11. doi: 10.1159/000074338. Cytogenet Genome Res. 2003. PMID: 14684984 Review.
228 results