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Journal Abstract Search

142 related items for PubMed ID: 9247725

  • 1. 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
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  • 2. 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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  • 3. 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
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  • 4. X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene.
    Cuevas-Covarrubias SA, Kofman-Alfaro SH, Maya-Núñez G, Díaz-Zagoya JC, Orozco Orozco E.
    Am J Med Genet; 1997 Nov 12; 72(4):415-6. PubMed ID: 9375723
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  • 5. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis.
    Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL, Cuevas-Covarrubias SA.
    Am J Med Genet; 2001 Aug 01; 102(2):146-8. PubMed ID: 11477606
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  • 6. 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 Aug 01; 4(1):76-8. PubMed ID: 7951263
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  • 7. 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
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  • 12. 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
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  • 13. 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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  • 16. Molecular analysis of X-linked ichthyosis in Japan.
    Sugawara T, Fujimoto Y, Fujimoto S.
    Horm Res; 2001 Nov 06; 56(5-6):182-7. PubMed ID: 11910205
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  • 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
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  • 19. 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
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  • 20. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population.
    Jimenez Vaca AL, Valdes-Flores Mdel R, Rivera-Vega MR, González-Huerta LM, Kofman-Alfaro SH, Cuevas-Covarrubias SA.
    Mol Med; 2001 Dec 01; 7(12):845-9. PubMed ID: 11844872
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