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Journal Abstract Search

122 related items for PubMed ID: 1746892

  • 1. Pericentric inversion of the X chromosome: presentation of a case and review of the literature.
    Schorderet DF, Friedman C, Disteche CM.
    Ann Genet; 1991; 34(2):98-103. PubMed ID: 1746892
    [Abstract] [Full Text] [Related]

  • 2. [Familial pericentric inversion of the X chromosome [inv(X)(p11q28)]].
    Baumann W, Zabel B, Holl M.
    Ann Genet; 1984; 27(2):106-8. PubMed ID: 6331785
    [Abstract] [Full Text] [Related]

  • 3. Prenatal in situ hybridization test for deleted steroid sulfatase gene.
    Lebo RV, Lynch ED, Golbus MS, Flandermeyer RR, Yen PH, Shapiro LJ.
    Am J Med Genet; 1993 Jul 01; 46(6):652-8. PubMed ID: 8362907
    [Abstract] [Full Text] [Related]

  • 4. Short stature in a mother and daughter with terminal deletion of Xp22.3.
    Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U, Gal A.
    Am J Med Genet; 1996 May 03; 63(1):239-42. PubMed ID: 8723116
    [Abstract] [Full Text] [Related]

  • 5. Heterogeneity of pericentric inversions of the human y chromosome.
    Knebel S, Pasantes JJ, Thi DA, Schaller F, Schempp W.
    Cytogenet Genome Res; 2011 May 03; 132(4):219-26. PubMed ID: 21307635
    [Abstract] [Full Text] [Related]

  • 6. Pericentric inversions of the X chromosome. A new observation and review of the published cases.
    Pfeiffer RA, Kossakiewicz M, Baisch C.
    J Genet Hum; 1986 Aug 03; 34(3-4):331-7. PubMed ID: 3760837
    [Abstract] [Full Text] [Related]

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  • 8. Differential expression of steroid sulphatase locus on active and inactive human X chromosome.
    Migeon BR, Shapiro LJ, Norum RA, Mohandas T, Axelman J, Dabora RL.
    Nature; 1982 Oct 28; 299(5886):838-40. PubMed ID: 6957717
    [Abstract] [Full Text] [Related]

  • 9. X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.
    Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G.
    Am J Med Genet; 1995 Nov 06; 59(2):143-8. PubMed ID: 8588575
    [Abstract] [Full Text] [Related]

  • 10. Localization of Y chromosome sequences and X chromosomal replication studies in XX males.
    Schempp W, Müller G, Scherer G, Bohlander SK, Rommerskirch W, Fraccaro M, Wolf U.
    Hum Genet; 1989 Jan 06; 81(2):144-8. PubMed ID: 2912884
    [Abstract] [Full Text] [Related]

  • 11. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
    Panasiuk B, Usinskiené R, Kostyk E, Rybałko A, Stasiewicz-Jarocka B, Krzykwa B, Pieńkowska-Grela B, Kucinskas V, Michalova K, Midro AT.
    Ann Genet; 2004 Jan 06; 47(1):11-28. PubMed ID: 15050871
    [Abstract] [Full Text] [Related]

  • 12. [Study on the steroid sulfatase (STS) activity in normal individuals and patients with abnormal sexual differentiation].
    Shinohara M.
    Nihon Naibunpi Gakkai Zasshi; 1989 Mar 20; 65(3):161-73. PubMed ID: 2767285
    [Abstract] [Full Text] [Related]

  • 13. Prenatal detection of de novo paracentric inversion 46, XX inv (14) (q22q32.1) in a normal child: report and review of the literature.
    Hales HA, Peterson CM, Carey J, Hecht BK, Hecht F.
    Am J Med Genet; 1993 Nov 01; 47(6):848-51. PubMed ID: 8279482
    [Abstract] [Full Text] [Related]

  • 14. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.
    Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fujimoto S.
    Hum Mutat; 2000 Mar 01; 15(3):296. PubMed ID: 10679952
    [Abstract] [Full Text] [Related]

  • 15. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization.
    Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, Bresson JL, Amice V, De Braekeleer M, Douet-Guilbert N.
    Hum Reprod; 2007 Jan 01; 22(1):136-41. PubMed ID: 16917123
    [Abstract] [Full Text] [Related]

  • 16. Alleles of the microsomal steroid sulfatase gene (Sts) in the pseudoautosomal region of the heterosomes of the mouse.
    Roubertoux PL, Degrelle H, Maxson SC, Phillips J, Tordjman S, Moutier R, Dupertuis-Hass MC.
    C R Acad Sci III; 1994 Jun 01; 317(6):523-7. PubMed ID: 7987703
    [Abstract] [Full Text] [Related]

  • 17. The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed.
    Immken L, Mohandas T, Sparkes RS, Shapiro LJ.
    Am J Hum Genet; 1984 Sep 01; 36(5):979-86. PubMed ID: 6594046
    [Abstract] [Full Text] [Related]

  • 18. Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females.
    Abeliovich D, Dagan J, Kimchi-Sarfaty C, Zlotogora J.
    Am J Med Genet; 1995 Jan 30; 55(3):359-62. PubMed ID: 7726237
    [Abstract] [Full Text] [Related]

  • 19. Prenatal cytogenetic assessment and inv(2)(p11.2q13).
    Hysert M, Bruyère H, Côté GB, Dawson AJ, Dolling JA, Fetni R, Hrynchak M, Lavoie J, McGowan-Jordan J, Tihy F, Duncan AM.
    Prenat Diagn; 2006 Sep 30; 26(9):810-3. PubMed ID: 16821252
    [Abstract] [Full Text] [Related]

  • 20. Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.
    Nishimura S, Masuda H, Matsumoto T, Sakura N, Matsumoto T, Ueda K.
    Am J Med Genet; 1991 Sep 01; 40(3):260-3. PubMed ID: 1951426
    [Abstract] [Full Text] [Related]

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