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Journal Abstract Search

319 related items for PubMed ID: 8588575

  • 1. 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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  • 2. 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 Nov 06; 4(1):76-8. PubMed ID: 7951263
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  • 6. 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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  • 9. Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis.
    Jensen TG, Jensen UB, Jensen PK, Ibsen HH, Brandrup F, Ballabio A, Bolund L.
    Exp Cell Res; 1993 Dec 01; 209(2):392-7. PubMed ID: 8262159
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  • 10. Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.
    Winge MC, Hoppe T, Liedén A, Nordenskjöld M, Vahlquist A, Wahlgren CF, Törmä H, Bradley M, Berne B.
    J Dermatol Sci; 2011 Jul 01; 63(1):62-4. PubMed ID: 21530180
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  • 12. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
    Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P.
    Am J Med Genet; 1991 Nov 01; 41(2):184-7. PubMed ID: 1785631
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  • 13. [Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis].
    Liu A, Xiao SX, Tan SS, Jiao T, Liu Y, Li XL, Zhou SN.
    Di Yi Jun Yi Da Xue Xue Bao; 2005 Aug 01; 25(8):1023-5. PubMed ID: 16109567
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  • 14. 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 01; 38(4):421-8. PubMed ID: 8186420
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  • 15. 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 01; 75(5):340-2. PubMed ID: 8615047
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  • 16. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
    Ben Khelifa H, Soyah N, Ben-Abdallah-Bouhjar I, Gritly R, Sanlaville D, Elghezal H, Saad A, Mougou-Zerelli S.
    Gene; 2013 Sep 25; 527(2):578-83. PubMed ID: 23791652
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  • 17. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
    Cañueto J, Ciria S, Hernández-Martín A, Unamuno P, González-Sarmiento R.
    J Eur Acad Dermatol Venereol; 2010 Oct 25; 24(10):1226-9. PubMed ID: 20236202
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  • 18. X-linked ichthyosis: an update.
    Hernández-Martín A, González-Sarmiento R, De Unamuno P.
    Br J Dermatol; 1999 Oct 25; 141(4):617-27. PubMed ID: 10583107
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  • 19. Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.
    Cuevas-Covarrubias SA, Jiménez-Vaca AL, González-Huerta LM, Valdes-Flores M, Del Refugio Rivera-Vega M, Maya-Nunez G, Kofman-Alfaro SH.
    J Invest Dermatol; 2002 Oct 25; 119(4):972-5. PubMed ID: 12406347
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