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201 results

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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.
Are human male patients with DAX1/NR0B1 mutations infertile?
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S. Ravel C, et al. Ann Endocrinol (Paris). 2014 May;75(2):126-7. doi: 10.1016/j.ando.2014.03.003. Epub 2014 Apr 21. Ann Endocrinol (Paris). 2014. PMID: 24751136 Review.
Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.
Hyon C, Mansour-Hendili L, Chantot-Bastaraud S, Donadille B, Kerlan V, Dodé C, Jonard S, Delemer B, Gompel A, Reznik Y, Touraine P, Siffroi JP, Christin-Maitre S. Hyon C, et al. J Clin Endocrinol Metab. 2016 May;101(5):2099-104. doi: 10.1210/jc.2016-1291. Epub 2016 Mar 22. J Clin Endocrinol Metab. 2016. PMID: 27003306
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. 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.
201 results