De Baere E - Search Results

1

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. De Baere E, et al. Among authors: de paepe a, de sutter p. Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529855 Free PMC article.

2

Compositional biases and polyalanine runs in humans.

Cocquet J, De Baere E, Caburet S, Veitia RA. Cocquet J, et al. Among authors: de baere e. Genetics. 2003 Nov;165(3):1613-7. doi: 10.1093/genetics/165.3.1613. Genetics. 2003. PMID: 14668408 Free PMC article.

3

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. Beysen D, et al. Among authors: de paepe a, de baere e. Hum Mutat. 2004 Sep;24(3):189-93. doi: 10.1002/humu.20079. Hum Mutat. 2004. PMID: 15300845

4

Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman.

Baron D, Batista F, Chaffaux S, Cocquet J, Cotinot C, Cribiu E, De Baere E, Guiguen Y, Jaubert F, Pailhoux E, Pannetier M, Vaiman D, Vigier B, Veitia R, Fellous M. Baron D, et al. Among authors: de baere e. Reprod Nutr Dev. 2005 May-Jun;45(3):377-82. doi: 10.1051/rnd:2005028. Reprod Nutr Dev. 2005. PMID: 15982462 Free article. Review.

5

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. De Baere E, et al. Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Pediatr Endocrinol Rev. 2005. PMID: 16208278 Review.

6

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. Nallathambi J, et al. Among authors: de baere e. Hum Genet. 2007 Mar;121(1):107-12. doi: 10.1007/s00439-006-0276-0. Epub 2006 Nov 7. Hum Genet. 2007. PMID: 17089161

7

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Coppieters F, et al. Among authors: de bosscher k, de baere e. Am J Hum Genet. 2007 Jul;81(1):147-57. doi: 10.1086/518426. Epub 2007 May 24. Am J Hum Genet. 2007. PMID: 17564971 Free PMC article.

8

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Nallathambi J, Neethirajan G, Usha K, Jitendra J, De Baere E, Sundaresan P. Nallathambi J, et al. Among authors: de baere e. J Genet. 2007 Aug;86(2):165-8. doi: 10.1007/s12041-007-0021-z. J Genet. 2007. PMID: 17968144 Free article. No abstract available.

9

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. Beysen D, et al. Among authors: 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. Hum Mol Genet. 2008. PMID: 18372316

10

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. Beysen D, et al. Among authors: de jaegere s, de paepe a, de ravel t, de baere e. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. Hum Mutat. 2008. PMID: 18642388

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