| 1 | DSS, DUPXP, NR0B1
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| Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.
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| Piccione M, Maresi E, Zollino M, Sanfilippo C, Seminara L, Neri G, Corsello G.
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| Am J Med Genet A 146A(20):2681-7.
2008
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| 2 | DSS, SRA, SRA2, SRA3, NR0B1, SRD5A2, PPSH
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| Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
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| Barbaro M, Cicognani A, Balsamo A, Lfgren A, Baldazzi L, Wedell A, Oscarson M.
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| Clin Genet 73(5):453-64. Epub 2008 Apr 2. 2008
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| 3 | DSS,NR0B1
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| Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
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| Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P.
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| Hum Genet 122(1):63-70. Epub 2007 May 15. 2007
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| 4 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2,SRA3
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| Sex determination and sex reversal.
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| Camerino G, Parma P, Radi O, Valentini S.
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| Curr Opin Genet Dev 16(3):289-92. Epub 2006 May 2. Review. 2006
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| 5 | NR0B1, NR5A1, SRA3, DSS
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| Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
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| Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC.
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| J Clin Endocrinol Metab 91(8):3048-54. Epub 2006 May 9. 2006
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| 6 | NR0B1, DSS, AHC
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| DAX1 origin, function, and novel role.
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| Niakan KK, McCabe ER.
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| Mol Genet Metab 86(1-2):70-83. Review. 2005
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| 7 | NR0B1, NR5A1, DSS, AHC
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| Molecular mechanisms of DAX1 action.
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| Iyer AK, McCabe ER.
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| Mol Genet Metab 83(1-2):60-73. 2004
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| 8 | NR0B1, DSS
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| Sex determination: a 'window' of DAX1 activity.
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| Ludbrook LM, Harley VR.
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| Trends Endocrinol Metab 15(3):116-21. Review. 2004
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| 9 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2, SRA3
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| One tissue, two fates: molecular genetic events that underlie testis versus ovary development.
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| Brennan J, Capel B.
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| Nat Rev Genet 5(7):509-21. Review. No abstract available. 2004
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| 10 | NR0B1, NR5A1, DSS, AHC, NR5A1, SRA3
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| Phenotypic spectrum of mutations in DAX-1 and SF-1.
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| Achermann JC, Meeks JJ, Jameson JL.
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| Mol Cell Endocrinol 185(1-2):17-25. Review. 2001
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| 11 | NR0B2, DSS, SRY, NR0B1
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| Dax1 antagonizes Sry action in mammalian sex determination.
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| Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R.
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| Nature 391(6669):761-7. 1998
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| 12 | DSS, DUPXP, DUPXPP
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| Xp-duplications with and without sex reversal.
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| Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W.
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| Hum Genet 97(1):79-86. Review. 1996
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| 13 | DSS, DUPXP
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| Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp).
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| Ito T, et al.
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| J Pediatr Endocrinol Metab 9 : 429-433. 1996
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| 14 | AHC, DSS, MAGEB1, MAGEB2, NR0B2
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| A family of rapidly evolving genes from the sex reversal critical regionin Xp21.
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| Dabovic B, et al.
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| Mamm Genome 6 : 571-580. 1995
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| 15 | MAGEB1, DSS
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| Isolation and characterization of a MAGE gene family in the Xp21.3 region.
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| Muscatelli F, et al.
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| Proc Natl Acad Sci U S A 92 : 4987-4991. 1995
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| 16 | DSS
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| SRVX, a sex reversing locus in Xp21.2-p22.11.
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| Arn P, et al.
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| Hum Genet 93 : 389-393. 1994
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| 17 | DSS
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| Testis determining gene(s) on the X chromosome short arm : chromosomal localisation and possible role in testis determination.
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| Ogata T, et al.
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| J Med Genet 31 : 349-350. 1994
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| 18 | NR0B2, DSS, AHC
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| An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
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| Zanaria E, et al.
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| Nature 372 : 635-641. 1994
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| 19 | DSS
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| A dosage sensitive locus at chromosome Xp21 is involved in male to female sexreversal.
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| Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, FerranteE, Chiumello G, McCabe ER, Fraccaro M, et al.
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| Nat Genet 7(4):497-501. 1994
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| 20 | DSS, DUPXP, SRY
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| Sex reversal in a child with a 46,X,Yp+ karyotype : support for the existence of a gene(s), located in distal Xp, involved in testis formation.
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| Ogata T, et al.
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| J Med Genet 29 : 226-230. 1992
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