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FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR. Bagheri-Fam S, et al. Among authors: scherer g. Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362256 Free PMC article.
Loss of Fgfr2 leads to partial XY sex reversal.
Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, Scherer G, Harley VR. Bagheri-Fam S, et al. Among authors: scherer g. Dev Biol. 2008 Feb 1;314(1):71-83. doi: 10.1016/j.ydbio.2007.11.010. Epub 2007 Nov 19. Dev Biol. 2008. PMID: 18155190 Free article.
Homozygous inactivation of Sox9 causes complete XY sex reversal in mice.
Barrionuevo F, Bagheri-Fam S, Klattig J, Kist R, Taketo MM, Englert C, Scherer G. Barrionuevo F, et al. Among authors: scherer g. Biol Reprod. 2006 Jan;74(1):195-201. doi: 10.1095/biolreprod.105.045930. Epub 2005 Oct 5. Biol Reprod. 2006. PMID: 16207837
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G. Meyer J, et al. Among authors: scherer g. Hum Mol Genet. 1997 Jan;6(1):91-8. doi: 10.1093/hmg/6.1.91. Hum Mol Genet. 1997. PMID: 9002675 Free article.
394 results