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Journal Abstract Search

205 related items for PubMed ID: 10844566

  • 1.
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  • 2. 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; 15(3):296. PubMed ID: 10679952
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  • 3. 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; 119(4):972-5. PubMed ID: 12406347
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  • 4. 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; 114(3):591-3. PubMed ID: 10692123
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  • 5. 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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  • 9. 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
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  • 10. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.
    Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH.
    Proc Natl Acad Sci U S A; 1987 Dec 01; 84(24):9248-51. PubMed ID: 3480541
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  • 11. [Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].
    Meyer JC, Schnyder UW.
    Hautarzt; 1982 Feb 01; 33(2):82-8. PubMed ID: 6951821
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  • 12. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
    Alperin ES, Shapiro LJ.
    J Biol Chem; 1997 Aug 15; 272(33):20756-63. PubMed ID: 9252398
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  • 13. [Biochemical study on steroid sulfatase and its clinical application to the obstetrics and gynecology].
    Sugawara T.
    Hokkaido Igaku Zasshi; 1992 Jul 15; 67(4):552-62. PubMed ID: 1427599
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  • 14. Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.
    Santolaya-Forgas J, Cohen L, Vengalil S, Field F, Rodriguez A, McCorquadale M, McCorquadale DJ.
    Fetal Diagn Ther; 1997 Jul 15; 12(1):36-9. PubMed ID: 9101220
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  • 15. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
    Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F.
    J Med Genet; 2000 Aug 15; 37(8):600-2. PubMed ID: 10922387
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  • 16. 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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  • 17. 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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  • 18. Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation.
    Bonifas JM, Epstein EH.
    J Invest Dermatol; 1990 Jul 06; 95(1):16-9. PubMed ID: 2366000
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  • 19. 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 06; 75(5):340-2. PubMed ID: 8615047
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  • 20. A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C.
    Sunohara N, Sakuragawa N, Satoyoshi E, Tanae A, Shapiro LJ.
    Ann Neurol; 1986 Feb 06; 19(2):174-81. PubMed ID: 3516063
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