Veitia RA - Search Results

1

DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.

Elzaiat M, Flatters D, Sierra-Díaz DC, Legois B, Laissue P, Veitia RA. Elzaiat M, et al. Among authors: veitia ra. Hum Genet. 2020 Nov;139(11):1455-1470. doi: 10.1007/s00439-020-02189-5. Epub 2020 Jun 5. Hum Genet. 2020. PMID: 32504121

2

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K. Veitia R, et al. Hum Genet. 1997 May;99(5):648-52. doi: 10.1007/s004390050422. Hum Genet. 1997. PMID: 9150734

3

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.

4

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.

Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M, Veitia RA. Laissue P, et al. Among authors: veitia ra. Eur J Endocrinol. 2006 May;154(5):739-44. doi: 10.1530/eje.1.02135. Eur J Endocrinol. 2006. PMID: 16645022

5

Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.

Laissue P, Copelli S, Bergada I, Bergada C, Barrio G, Karaboga S, Wurtz JM, Fellous M, Lalli E, Veitia RA. Laissue P, et al. Among authors: veitia ra. Clin Endocrinol (Oxf). 2006 Nov;65(5):681-6. doi: 10.1111/j.1365-2265.2006.02649.x. Clin Endocrinol (Oxf). 2006. PMID: 17054473

6

Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure.

Laissue P, Christin-Maitre S, Bouchard P, Fellous M, Veitia RA. Laissue P, et al. Among authors: veitia ra. Clin Endocrinol (Oxf). 2007 Jun;66(6):900. doi: 10.1111/j.1365-2265.2007.02797.x. Epub 2007 Mar 23. Clin Endocrinol (Oxf). 2007. PMID: 17381491 No abstract available.

7

Recent advances in the study of genes involved in non-syndromic premature ovarian failure.

Laissue P, Vinci G, Veitia RA, Fellous M. Laissue P, et al. Among authors: veitia ra. Mol Cell Endocrinol. 2008 Jan 30;282(1-2):101-11. doi: 10.1016/j.mce.2007.11.005. Epub 2007 Nov 19. Mol Cell Endocrinol. 2008. PMID: 18164539 Review.

8

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Nallathambi J, Laissue P, Batista F, Benayoun BA, Lesaffre C, Moumné L, Pandaranayaka PE, Usha K, Krishnaswamy S, Sundaresan P, Veitia RA. Nallathambi J, et al. Among authors: veitia ra. Hum Mutat. 2008 Aug;29(8):E123-31. doi: 10.1002/humu.20809. Hum Mutat. 2008. PMID: 18484667

9

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: veitia ra. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. Hum Mutat. 2008. PMID: 18642388

10

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. Laissue P, et al. Among authors: veitia ra. J Med Genet. 2009 Jul;46(7):455-7. doi: 10.1136/jmg.2008.065086. Epub 2009 May 7. J Med Genet. 2009. PMID: 19429596 Free article.

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