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Journal Abstract Search

169 related items for PubMed ID: 7951263

  • 1. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
    Yen PH, Ferrero GB, Chinault AC, Mohandas T, Ballabio A.
    Hum Mutat; 1994; 4(1):76-8. PubMed ID: 7951263
    [No Abstract] [Full Text] [Related]

  • 2. 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
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  • 5. Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography.
    Sugawara T, Iwaki M, Fujimoto S.
    Clin Chim Acta; 1997 Jul 04; 263(1):25-32. PubMed ID: 9247725
    [Abstract] [Full Text] [Related]

  • 6. [Occurrence of X-linked ichthyosis along with atopy].
    Harangi F, Morava E, Adonyi M.
    Orv Hetil; 2000 Jun 04; 141(23):1301-3. PubMed ID: 10905086
    [Abstract] [Full Text] [Related]

  • 7. A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.
    Lee WC, Ferrero GB, Chinault AC, Yen PH, Ballabio A.
    Genomics; 1993 Oct 04; 18(1):1-6. PubMed ID: 8276392
    [Abstract] [Full Text] [Related]

  • 8. Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction.
    Sugawara T, Honke K, Fujimoto S, Makita A.
    Jpn J Hum Genet; 1993 Dec 04; 38(4):421-8. PubMed ID: 8186420
    [Abstract] [Full Text] [Related]

  • 9. Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency.
    González-Huerta LM, Riviera-Vega MR, Kofman-Alfeuro SH, Cuevas-Covarrubias SA.
    Clin Endocrinol (Oxf); 2003 Aug 04; 59(2):263-4. PubMed ID: 12864806
    [No Abstract] [Full Text] [Related]

  • 10. A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction.
    Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, Sawamura D, Hashimoto I.
    Acta Derm Venereol; 1995 Sep 04; 75(5):340-2. PubMed ID: 8615047
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  • 11. [Biochemical study on steroid sulfatase and its clinical application to the obstetrics and gynecology].
    Sugawara T.
    Hokkaido Igaku Zasshi; 1992 Jul 04; 67(4):552-62. PubMed ID: 1427599
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Molecular genetics of the X chromosome and X-linked diseases.
    Craig IW, Goodfellow PN.
    Lab Invest; 1986 Mar 01; 54(3):241-53. PubMed ID: 3512907
    [No Abstract] [Full Text] [Related]

  • 14. Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.
    Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.
    J Invest Dermatol; 2000 Mar 01; 114(3):591-3. PubMed ID: 10692123
    [Abstract] [Full Text] [Related]

  • 15. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.
    Bernatowicz LF, Li XM, Carrozzo R, Ballabio A, Mohandas T, Yen PH, Shapiro LJ.
    Genomics; 1992 Jul 01; 13(3):892-3. PubMed ID: 1639422
    [Abstract] [Full Text] [Related]

  • 16. [Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].
    Meyer JC, Schnyder UW.
    Hautarzt; 1982 Feb 01; 33(2):82-8. PubMed ID: 6951821
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis.
    Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.
    J Invest Dermatol; 2001 Mar 01; 116(3):456-8. PubMed ID: 11231321
    [Abstract] [Full Text] [Related]

  • 19. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.
    Hosomi N, Oiso N, Fukai K, Hanada K, Fujita H, Ishii M.
    J Dermatol Sci; 2007 Jan 01; 45(1):31-6. PubMed ID: 17113756
    [Abstract] [Full Text] [Related]

  • 20. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques.
    Aviram-Goldring A, Goldman B, Netanelov-Shapira I, Chen-Shtoyerman R, Zvulunov A, Tal O, Ilan T, Peleg L.
    Int J Dermatol; 2000 Mar 01; 39(3):182-7. PubMed ID: 10759956
    [Abstract] [Full Text] [Related]

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