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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.
The X chromosome and ovarian function.
Vialard F, Cocquet J, Christin-Maitre S, Veitia R, Fellous M. Vialard F, et al. Cytogenet Genome Res. 2002;99(1-4):218-23. doi: 10.1159/000071596. Cytogenet Genome Res. 2002. PMID: 12900567 Review. No abstract available.
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.
Caburet S, Zavadakova P, Ben-Neriah Z, Bouhali K, Dipietromaria A, Charon C, Besse C, Laissue P, Chalifa-Caspi V, Christin-Maitre S, Vaiman D, Levi G, Veitia RA, Fellous M. Caburet S, et al. PLoS One. 2012;7(3):e33412. doi: 10.1371/journal.pone.0033412. Epub 2012 Mar 13. PLoS One. 2012. PMID: 22428046 Free PMC article.
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Bashamboo A, et al. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Am J Hum Genet. 2010. PMID: 20887963 Free PMC article.
199 results