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[NR5A1 and ovarian failure].
Bashamboo A, Ravel C, Brauner R, McElreavey K. Bashamboo A, et al. Med Sci (Paris). 2009 Oct;25(10):809-13. doi: 10.1051/medsci/20092510809. Med Sci (Paris). 2009. PMID: 19849982 Free article. Review. French.
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.
Effect of temozolomide on male gametes: an epigenetic risk to the offspring?
Berthaut I, Montjean D, Dessolle L, Morcel K, Deluen F, Poirot C, Bashamboo A, McElreavey K, Ravel C. Berthaut I, et al. Among authors: bashamboo a. J Assist Reprod Genet. 2013 Jun;30(6):827-33. doi: 10.1007/s10815-013-9999-8. Epub 2013 May 8. J Assist Reprod Genet. 2013. PMID: 23652788 Free PMC article.
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.
Jaillard S, Bashamboo A, Pasquier L, Belaud-Rotureau MA, McElreavey K, Odent S, Ravel C. Jaillard S, et al. Among authors: bashamboo a. J Assist Reprod Genet. 2015 Feb;32(2):287-91. doi: 10.1007/s10815-014-0383-0. Epub 2014 Nov 12. J Assist Reprod Genet. 2015. PMID: 25388168 Free PMC article. No abstract available.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Portnoi MF, et al. Among authors: bashamboo a. Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037. Hum Mol Genet. 2018. PMID: 29373757 Free PMC article. Clinical Trial.
The TALE homeodomain of PBX1 is involved in human primary testis-determination.
Eozenou C, Bashamboo A, Bignon-Topalovic J, Merel T, Zwermann O, Lourenco D, Lottmann H, Lichtenauer U, Rojo S, Beuschlein F, McElreavey K, Brauner R. Eozenou C, et al. Among authors: bashamboo a. Hum Mutat. 2019 Aug;40(8):1071-1076. doi: 10.1002/humu.23780. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31058389
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