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201 related items for PubMed ID: 12424769

  • 1. 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; 22(11):1028-32. PubMed ID: 12424769
    [Abstract] [Full Text] [Related]

  • 2. Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.
    Langlois S, Armstrong L, Gall K, Hulait G, Livingston J, Nelson T, Power P, Pugash D, Siciliano D, Steinraths M, Mattman A.
    Prenat Diagn; 2009 Oct; 29(10):966-74. PubMed ID: 19609942
    [Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis.
    Watanabe T, Fujimori K, Kato K, Nomura Y, Onogi S, Sato A.
    J Obstet Gynaecol Res; 2003 Dec; 29(6):427-30. PubMed ID: 14641695
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization.
    Ahmed MN, Killam A, Thompson KH, Qumsiyeh MB.
    Obstet Gynecol; 1998 Oct 01; 92(4 Pt 2):687-9. PubMed ID: 9764665
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
    Keren DF, Canick JA, Johnson MZ, Schaldenbrand JD, Haning RV, Hackett R.
    Am J Clin Pathol; 1995 Apr 01; 103(4):400-3. PubMed ID: 7726134
    [Abstract] [Full Text] [Related]

  • 8. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
    Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M.
    Pediatrics; 2006 Feb 01; 117(2):e322-7. PubMed ID: 16390921
    [Abstract] [Full Text] [Related]

  • 9. Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency.
    Jari SD, Fraer LM, Hogge WA.
    Fetal Diagn Ther; 2004 Feb 01; 19(1):43-8. PubMed ID: 14646417
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 9(10):1192-6. PubMed ID: 20941942
    [Abstract] [Full Text] [Related]

  • 11. Placental synthesis of oestriol in Down's syndrome pregnancies.
    Newby D, Aitken DA, Howatson AG, Connor JM.
    Placenta; 2000 Oct 01; 21(2-3):263-7. PubMed ID: 10736251
    [Abstract] [Full Text] [Related]

  • 12. Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies.
    Marcos J, Craig WY, Palomaki GE, Kloza EM, Haddow JE, Roberson M, Bradley LA, Shackleton CH.
    Prenat Diagn; 2009 Aug 01; 29(8):771-80. PubMed ID: 19418464
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 14. Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome.
    Di Mario M, Ferrari A, Morales V, Perosin D, Pazzoni F, Piazzi G.
    Gynecol Obstet Invest; 1998 Nov 06; 45(4):277-8. PubMed ID: 9623797
    [Abstract] [Full Text] [Related]

  • 15. Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screening.
    Graf MD, Gill P, Krew M, Schwartz S.
    Prenat Diagn; 2002 Aug 06; 22(8):645-8. PubMed ID: 12210569
    [Abstract] [Full Text] [Related]

  • 16. 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]

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

  • 18. Placental sulfatase deficiency. Biochemical and clinical aspects.
    Nakayama T, Yanaihara T.
    Contrib Gynecol Obstet; 1982 Mar 01; 9():145-56. PubMed ID: 6216072
    [No Abstract] [Full Text] [Related]

  • 19. 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 01; 45(1):31-6. PubMed ID: 17113756
    [Abstract] [Full Text] [Related]

  • 20. Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency.
    David M, Israel N, Merksamer R, Bar-Nizan N, Borochowitz Z, Bar-el H, Yehudai I, Dar H.
    Fetal Diagn Ther; 1995 Jan 01; 10(2):76-9. PubMed ID: 7794518
    [Abstract] [Full Text] [Related]

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