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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: brauner r. 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.
[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].
Boucekkine C, Vilain E, McElreavey K, Jaubert F, Brauner R, Thibaud E, Battin J, Toublanc JE, Kucheria K, Chaabouni S, et al. Boucekkine C, et al. Among authors: brauner r. Ann Endocrinol (Paris). 1994;54(5):315-21. Ann Endocrinol (Paris). 1994. PMID: 8085778 French.
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Lourenço D, et al. Among authors: brauner r. N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25. N Engl J Med. 2009. PMID: 19246354 Free PMC article.
[NR5A1 and ovarian failure].
Bashamboo A, Ravel C, Brauner R, McElreavey K. Bashamboo A, et al. Among authors: brauner r. Med Sci (Paris). 2009 Oct;25(10):809-13. doi: 10.1051/medsci/20092510809. Med Sci (Paris). 2009. PMID: 19849982 Free article. Review. French.
318 results