| 1 | DEL9P, SRA2
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| Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.
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| Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, Marrocco G, Battaglia D, Fundarò C, Neri G.
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| Am J Med Genet A 158A(9):2266-71. doi: 10.1002/ajmg.a.35489. Epub 2012 Jul 20.
2012
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| 2 | DEL9P, DMRT1, DMRT2, DUP15QD, IGF1R, SRA2
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| A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation.
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| Argyriou L, Hiort O, Meinecke P, Wünsch L, Volleth M, Hinrichs F, Caliebe A, Gillessen-Kaesbach G.
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| Clin Dysmorphol 19(4):190-4.PMID: 20671549 2010
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| 3 | DEL9P, SRA2
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| Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
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| Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A.
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| Eur J Hum Genet 17(11):1439-47. Epub 2009 May 6.
2009
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| 4 | 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, Lšfgren 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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| 5 | DEL9P, SRA2
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| Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.
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| Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K.
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| Mol Hum Reprod 13(9):685-9. Epub 2007 Jul 20. 2007
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| 6 | 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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| 7 | SRA2, DMRT1, DMRT2
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| Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development.
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| Ounap K, Uibo O, Zordania R, Kiho L, Ilus T, Oiglane-Shlik E, Bartsch O.
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| Am J Med Genet 130A(4):415-23. 2004
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| 8 | SRA2
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| Genitourinary phenotype in XX patients with distal 9p monosomy.
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| Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T.
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| Mol Genet Metab 82(2):173-9. 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 | DMRT1, DMRT2, DMRT3, KANK1, SRA2
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| The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain.
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| Ottolenghi C, Veitia R, Quintana-Murci L, Torchard D, Scapoli L, Souleyreau-Therville N, Beckmann J, Fellous M, McElreavey K.
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| Genomics 64(2):170-8. 2000
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| 11 | TDFA, SRA2
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| FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates.
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| Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wan Y, Haaf T.
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| Eur J Hum Genet 8(3):167-73. 2000
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| 12 | DMRT1, DMRT2, SRA2
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| A new submicroscopic deletion that refines the 9p region for sex reversal.
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| Calvari V, Bertini V, De Grandi A, Peverali G, Zuffardi O, Ferguson-Smith M, Knudtzon J, Camerino G, Borsani G, Guioli S.
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| Genomics 65(3):203-12. 2000
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| 13 | TDFA, DMRT1, DMRT2, SRA2
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| Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases.
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| Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T.
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| J Clin Endocrinol Metab 85(9):3094-100. 2000
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| 14 | DMRT1, DMRT2, SRA2,
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| A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.
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| Raymond CS, et al.
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| Hum Mol Genet 8(6):989-96. 1999
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| 15 | SMARCA2, SRA2, TDFA
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| Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.
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| Ion R, Telvi L, Chaussain JL, Barbet JP, Nunes M, Safar A, Rethore MO, Fellous M, McElreavey K.
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| Hum Genet 102(2):151-6. 1998
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| 16 | SRA2
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| Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome.
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| Veitia RA, et al.
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| Am J Hum Genet 63 : 901-905. 1998
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| 17 | SRA2
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| A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.
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| Flejter WL, et al.
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| Am J Hum Genet 63 : 794-802. 1998
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| 18 | SRA2
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| Molecular analysis of 9p deletions associated with XY sex reversal : refining the localization of a sex-determining gene to the tip of the chromosome.
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| Guioli S, et al.
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| Am J Hum Genet 63 : 905-908. 1998
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| 19 | SRA2
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| Deletions of distal 9p associated with 46,XY male to female sex reversal : definition of the breakpoints at 9p23.3-p24.1.
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| Veitia R, et al.
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| Genomics 41 : 271-274. 1997
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| 20 | SRA2,
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| XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.
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| McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL.
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| Am J Med Genet 73(3):321-6. Review. 1997
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| 21 | SRA2
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| Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1.
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| Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K.
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| Genomics 41(2):271-4. 1997
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| 22 | SRA2
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| Deletion 9p and sex reversal.
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| Bennett CP, et al.
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| J Med Genet 30 : 518-520. 1993
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| 23 | SRA2,
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| 9p monosomy associated with XY gonadal dysgenesis : a contigous gene syndrome?
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| Magenis RE, et al.
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| Am J Hum Genet 47 : A33. 1990
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| 24 | SRA2
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| Possible location of a recessive testis forming gene on 9p24.
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| Hoo JJ, et al.
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| Am J Hum Genet 45 : A78. 1989
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| 25 | DEL9P, SRA2
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| Eleven new cases of del(9p) and features from 80 cases.
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| Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J.
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| J Med Genet 25(11):741-9. Review. 1988
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