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2010
F. Ashton, O’Connor, R., Love, J. M., Doherty, E., Aftimos, S., George, A., and Love, D. R., Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal, vol. 9. pp. 1815-1823, 2010.
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Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor. BMC Bioinformatics 7: 474.http://dx.doi.org/10.1186/1471-2105-7-474PMid:17064419 PMCid:1634758 Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, et al. (2008). Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum. Mutat. 29: 59-64.http://dx.doi.org/10.1002/humu.20588PMid:17694559 PMCid:2359628 Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, et al. (2007). Complete sex reversal in a WAGR syndrome patient. Am. J. Med. Genet. A 143A: 2692-2695.http://dx.doi.org/10.1002/ajmg.a.31997PMid:17935232 Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, et al. (2007). Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J. Clin. Endocrinol. 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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). Am. J. Med. Genet. A 128A: 325-330.http://dx.doi.org/10.1002/ajmg.a.30115PMid:15216557 Tzschach A, Chen W, Erdogan F, Hoeller A, et al. (2008). Characterization of interstitial Xp duplications in two families by tiling path array CGH. Am. J. Med. Genet. A 146A: 197-203.http://dx.doi.org/10.1002/ajmg.a.32070PMid:18076117 Umehara F, Tate G, Itoh K, Yamaguchi N, et al. (2000). A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am. J. Hum. Genet. 67: 1302-1305.PMid:11017805 PMCid:1288570 Vasquez AI, Rivera H, Mayorquin A, Mejia-Baltodano G, et al. (1999). Sex reversal due to Xp disomy by t(X;Y)(p21;q11). Genet. Couns. 10: 301-304.PMid:10546103 Zanaria E, Muscatelli F, Bardoni B, Strom TM, et al. (1994). An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372: 635-641.http://dx.doi.org/10.1038/372635a0PMid:7990953