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Journal Abstract Search

196 related items for PubMed ID: 8362907

  • 1. 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]

  • 2. Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
    Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, O'Brien WE, Shaffer LG.
    Prenat Diagn; 2002 Nov 01; 22(11):1028-32. PubMed ID: 12424769
    [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. 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]

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  • 6. 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]

  • 7. 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 01; 119(4):972-5. PubMed ID: 12406347
    [Abstract] [Full Text] [Related]

  • 8. [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
    [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 01; 15(3):296. PubMed ID: 10679952
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. [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]

  • 12. 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 Dec 16; 6(2):103-7. PubMed ID: 7546451
    [Abstract] [Full Text] [Related]

  • 13. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome.
    Toral-Lopez J, González-Huerta LM, Cuevas-Covarrubias SA.
    Br J Dermatol; 2008 Apr 16; 158(4):818-20. PubMed ID: 18205863
    [Abstract] [Full Text] [Related]

  • 14. 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 16; 45(1):31-6. PubMed ID: 17113756
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. X-linked ichthyosis: an update.
    Hernández-Martín A, González-Sarmiento R, De Unamuno P.
    Br J Dermatol; 1999 Oct 01; 141(4):617-27. PubMed ID: 10583107
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Pericentric inversion of the X chromosome: presentation of a case and review of the literature.
    Schorderet DF, Friedman C, Disteche CM.
    Ann Genet; 1991 Sep 25; 34(2):98-103. PubMed ID: 1746892
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 04; 209(2):392-7. PubMed ID: 8262159
    [Abstract] [Full Text] [Related]

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