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Journal Abstract Search

308 related items for PubMed ID: 12210575

  • 1. Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.
    Nataf V, Senat MV, Albert M, Bidat L, de Mazancourt P, Roume J, Allard L, Le Tessier D, Ville Y, Selva J.
    Prenat Diagn; 2002 Aug; 22(8):675-80. PubMed ID: 12210575
    [Abstract] [Full Text] [Related]

  • 2. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome.
    Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, Ruszczynska-Wolska A, Jaruzelska J.
    J Med Genet; 1999 Jun; 36(6):452-6. PubMed ID: 10874632
    [Abstract] [Full Text] [Related]

  • 3. XX male: a rare cause of short stature, infertility, gynaecomastia and carcinoma of the breast.
    Hado HS, Helmy SW, Klemm K, Miller P, Elhadd TA.
    Int J Clin Pract; 2003 Nov; 57(9):844-5. PubMed ID: 14686579
    [Abstract] [Full Text] [Related]

  • 4. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.
    Hsu LY.
    Am J Med Genet; 1994 Nov 01; 53(2):108-40. PubMed ID: 7856637
    [Abstract] [Full Text] [Related]

  • 5. A 45,X sterile male with Yp disguised as 21p.
    Dávalos IP, Rivera H, Vásquez AI, Gutiérrez-Angulo M, Hernández-Vázquez MC, Cortina-Luna FA, Wong-Ley LE, Domínguez-Quezada MG.
    Am J Med Genet; 2002 Aug 01; 111(2):202-4. PubMed ID: 12210351
    [Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis of del(9)(p24): a sex reverse case.
    Privitera O, Vessecchia G, Bernasconi B, Bettio D, Stioui S, Giordano G.
    Prenat Diagn; 2005 Oct 01; 25(10):945-8. PubMed ID: 16086437
    [Abstract] [Full Text] [Related]

  • 7. Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype.
    Kotzot D, Hoffmann K, Kujat A, Holland H, Froster UG, Mücke J.
    Am J Med Genet; 2002 Nov 15; 113(1):108-10. PubMed ID: 12400076
    [No Abstract] [Full Text] [Related]

  • 8. Detection of t(X;Y) in 2 XX males using fluorescent in situ hybridization.
    Taiar N, Qumsiyeh MB, Croteau S, Rollet J, Benkhalifa M.
    Ann Genet; 1995 Nov 15; 38(2):102-5. PubMed ID: 7486824
    [Abstract] [Full Text] [Related]

  • 9. Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies.
    Shankman S, Spurdle AB, Morris D, Rosendorff J, Marques I, Bernstein R, Ramsay M.
    Am J Med Genet; 1995 Jan 30; 55(3):269-75. PubMed ID: 7726221
    [Abstract] [Full Text] [Related]

  • 10. Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions.
    Bosse K, Eggermann T, Van der Ven K, Raff R, Engels H, Schwanitz G.
    Ann Genet; 2004 Jan 30; 47(2):191-7. PubMed ID: 15183753
    [Abstract] [Full Text] [Related]

  • 11. Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
    Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M.
    Prenat Diagn; 2006 Apr 30; 26(4):324-9. PubMed ID: 16521154
    [Abstract] [Full Text] [Related]

  • 12. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
    Borie C, Léger J, Dupuy O, Hassan M, Ledu N, Lebbar A, Czernichow P, Eydoux P.
    Am J Med Genet A; 2004 Mar 01; 125A(2):186-90. PubMed ID: 14981722
    [Abstract] [Full Text] [Related]

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  • 15. An SRY-deleted XXY female resulting from a paternally inherited t(Y;22).
    Kim J, Kim SH, Song J, Choi JR, Kim HS, Lee KA.
    Ann Clin Lab Sci; 2010 Mar 01; 40(3):295-9. PubMed ID: 20689145
    [Abstract] [Full Text] [Related]

  • 16. A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly.
    Valetto A, Bertini V, Rapalini E, Simi P.
    Fertil Steril; 2005 Jan 01; 83(1):216-9. PubMed ID: 15652914
    [Abstract] [Full Text] [Related]

  • 17. Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absence of SRY sequence in gonadal tissue.
    Domenice S, Nishi MY, Billerbeck AE, Carvalho FM, Frade EM, Latronico AC, Arnhold IJ, Mendonca BB.
    Med Sci Monit; 2001 Jan 01; 7(2):238-41. PubMed ID: 11257728
    [Abstract] [Full Text] [Related]

  • 18. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
    Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W.
    Prenat Diagn; 2006 Apr 01; 26(4):313-20. PubMed ID: 16506269
    [Abstract] [Full Text] [Related]

  • 19. Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.
    Ogata T, Wakui K, Kosho T, Muroya K, Yamanouchi Y, Takano T, Fukushima Y, Rappold G, Suzuki Y.
    Am J Med Genet; 2000 Jun 05; 92(4):256-9. PubMed ID: 10842291
    [Abstract] [Full Text] [Related]

  • 20. [Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].
    Xing Y, Ji X, Xiao B, Jiang WT, Hu Q, Hu J, Cao Y, Tao J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Aug 05; 29(4):408-12. PubMed ID: 22875496
    [Abstract] [Full Text] [Related]

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