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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. Beysen D, et al. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16. Am J Hum Genet. 2005. PMID: 15962237 Free PMC article.
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. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. Hum Mutat. 2008. PMID: 18642388
FOXO3a variants in patients with premature ovarian failure.
Vinci G, Christin-Maitre S, Pasquier M, Bouchard P, Fellous M, Veitia RA. Vinci G, et al. Clin Endocrinol (Oxf). 2008 Mar;68(3):495-7. doi: 10.1111/j.1365-2265.2007.03052.x. Epub 2007 Sep 19. Clin Endocrinol (Oxf). 2008. PMID: 17888023 No abstract available.
Genes and premature ovarian failure.
Christin-Maitre S, Vasseur C, Portnoï MF, Bouchard P. Christin-Maitre S, et al. Mol Cell Endocrinol. 1998 Oct 25;145(1-2):75-80. doi: 10.1016/s0303-7207(98)00172-5. Mol Cell Endocrinol. 1998. PMID: 9922102 Review.
[Genes and ovarian insufficiency].
Christin-Maitre S, Bouchard P. Christin-Maitre S, et al. Ann Endocrinol (Paris). 1999 Jul;60(2):118-22. Ann Endocrinol (Paris). 1999. PMID: 10456183 Review. French.
[Premature ovarian failure].
Christin-Maitre S, Pasquier M, Donadille B, Bouchard P. Christin-Maitre S, et al. Ann Endocrinol (Paris). 2006 Dec;67(6):557-66. doi: 10.1016/s0003-4266(06)73007-4. Ann Endocrinol (Paris). 2006. PMID: 17194965 Review. French.
198 results