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198 related items for PubMed ID: 7546451

  • 1. The biochemical identification of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis.
    Cuevas-Covarrubias SA, Kofman-Alfaro S, Orozco Orozco E, Diaz-Zagoya JC.
    Genet Couns; 1995; 6(2):103-7. PubMed ID: 7546451
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Most "sporadic" cases of X-linked ichthyosis are not de novo mutations.
    Cuevas-Covarrubias SA, Valdes-Flores M, Orozco Orozco E, Díaz-Zagoya JC, Kofman-Alfaro SH.
    Acta Derm Venereol; 1999 Mar 06; 79(2):143-4. PubMed ID: 10228635
    [Abstract] [Full Text] [Related]

  • 6. Carrier identification in steroid sulphatase deficiency and recessive X-linked ichthyosis.
    Lykkesfeldt G, Lykkesfeldt AE.
    Acta Derm Venereol; 1986 Mar 06; 66(2):134-8. PubMed ID: 2424236
    [Abstract] [Full Text] [Related]

  • 7. The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis.
    Abdel-Hamed MF, Hussein HA, Helmy NA, Elsaie ML.
    J Drugs Dermatol; 2010 Oct 06; 9(10):1192-6. PubMed ID: 20941942
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 116(3):456-8. PubMed ID: 11231321
    [Abstract] [Full Text] [Related]

  • 9. 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 06; 15(3):296. PubMed ID: 10679952
    [Abstract] [Full Text] [Related]

  • 10. [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 06; 25(8):1023-5. PubMed ID: 16109567
    [Abstract] [Full Text] [Related]

  • 11. Steroid sulfatase activity in leukocytes: a comparative study in 45,X; 46,Xi(Xq) and carriers of steroid sulfatase deficiency.
    Miranda-Duarte A, Valdés-Flores M, Miranda-Zamora R, Díaz-Zagoya JC, Kofman-Alfaro SH, Cuevas-Covarrubias SA.
    Biochem Mol Biol Int; 1999 Jan 06; 47(1):137-42. PubMed ID: 10092953
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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 12; 119(4):972-5. PubMed ID: 12406347
    [Abstract] [Full Text] [Related]

  • 14. [Ichthyosis and steroid sulfatase: study of enzymatic activity in leukocytes and fibroblasts according to the sex and type of ichthyosis].
    Piraud M, Cambazard F, Barrut D.
    Pediatrie; 1990 Oct 12; 45(2):133-40. PubMed ID: 2158060
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. Molecular analysis of X-linked ichthyosis in Japan.
    Sugawara T, Fujimoto Y, Fujimoto S.
    Horm Res; 2001 Mar 01; 56(5-6):182-7. PubMed ID: 11910205
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. [Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].
    Zhu HY, Li HB, Wu LQ, Zhu XY, Li J, Yang Y, Zhu RF, Wu X, Duan HL, Zhang Y, Hu YL.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3246-9. PubMed ID: 19159546
    [Abstract] [Full Text] [Related]

  • 20. X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers.
    Piraud M, Maire I, Zabot MT.
    Enzyme; 1989 Dec 16; 41(4):227-34. PubMed ID: 2743959
    [Abstract] [Full Text] [Related]

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