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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: radi o. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
Sex determination and sex reversal.
Camerino G, Parma P, Radi O, Valentini S. Camerino G, et al. Among authors: radi o. Curr Opin Genet Dev. 2006 Jun;16(3):289-92. doi: 10.1016/j.gde.2006.04.014. Epub 2006 May 2. Curr Opin Genet Dev. 2006. PMID: 16647843 Review.
Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.
Rossi E, Radi O, De Lorenzi L, Vetro A, Groppetti D, Bigliardi E, Luvoni GC, Rota A, Camerino G, Zuffardi O, Parma P. Rossi E, et al. Among authors: radi o. PLoS One. 2014 Jul 10;9(7):e101244. doi: 10.1371/journal.pone.0101244. eCollection 2014. PLoS One. 2014. PMID: 25010117 Free PMC article.
[Genetics of sexual differentiation].
Camerino G, Parma P, Radi O. Camerino G, et al. Among authors: radi o. Minerva Pediatr. 2003 Oct;55(5 Suppl 1):3-6. Minerva Pediatr. 2003. PMID: 14992168 Italian. No abstract available.
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Vetro A, et al. Among authors: radi o. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351776 Free PMC article.
99 results