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Journal Abstract Search

383 related items for PubMed ID: 17493621

  • 1. Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
    Paris F, Philibert P, Lumbroso S, Baldet P, Charvet JP, Galifer RB, Sultan C.
    Fertil Steril; 2007 Nov; 88(5):1437.e21-5. PubMed ID: 17493621
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  • 2. Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.
    Shahid M, Dhillon VS, Hussain Z, Masa JF, Aslam M, Raish M, Ahmad A, Khan NJ, Prasad S, Batra S, Pasha ST, Husain SA.
    Fertil Steril; 2008 Oct; 90(4):1199.e1-8. PubMed ID: 18304538
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  • 5. A 46 XY phenotypic female adolescent with bilateral gonadal tumors consisting of five different components.
    Simon RA, Laughlin TS, Nuccie B, Wang N, Rothberg PG, Wang X.
    Int J Gynecol Pathol; 2008 Jul; 27(3):407-11. PubMed ID: 18580319
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  • 7. [Pure 46XY gonadal dysgenesis].
    Coutin AS, Hamy A, Fondevilla M, Savigny B, Paineau J, Visset J.
    J Gynecol Obstet Biol Reprod (Paris); 1996 Jul; 25(8):792-6. PubMed ID: 9026505
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  • 9. Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
    Marchina E, Gambera A, Spinelli E, Clerici P, Scagliola P, Sartori E, Barlati S.
    Fertil Steril; 2009 Mar; 91(3):932.e7-932.e11. PubMed ID: 18990383
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  • 10. [46,XY female sex reversal patient with a novel point mutation in the coding sequence of the SRY gene].
    Zhou C, Li LY, Fu JJ, Mo YQ, Zhong CG, Lu GX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):369-72. PubMed ID: 14556185
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  • 12. Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome).
    Iliopoulos D, Volakakis N, Tsiga A, Rousso I, Voyiatzis N.
    Ann Genet; 2004 Oct; 47(2):185-90. PubMed ID: 15183752
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  • 13. Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
    Rocha VB, Guerra-Júnior G, Marques-de-Faria AP, de Mello MP, Maciel-Guerra AT.
    Fertil Steril; 2011 Dec; 96(6):1431-4. PubMed ID: 21982289
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  • 15. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
    Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G, Baptista MT, Scolfaro MR, de Mello MP.
    J Mol Med (Berl); 2002 Dec; 80(12):782-90. PubMed ID: 12483463
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  • 17. Abnormal streak gonads in 46,XY complete gonadal dysgenesis.
    Doherty LF, Rackow BW.
    Fertil Steril; 2011 Dec; 96(6):1415-6. PubMed ID: 22032815
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