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Journal Abstract Search

152 related items for PubMed ID: 9623797

  • 21. 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; 92(4 Pt 2):687-9. PubMed ID: 9764665
    [Abstract] [Full Text] [Related]

  • 22. Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints.
    Newman RS, Affara NA, Yates JR, Mitchell M, Ferguson-Smith MA.
    Proc Biol Sci; 1990 Dec 22; 242(1305):231-9. PubMed ID: 1983039
    [Abstract] [Full Text] [Related]

  • 23. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.
    Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA.
    Genomics; 1989 Jan 22; 4(1):36-40. PubMed ID: 2644167
    [Abstract] [Full Text] [Related]

  • 24. Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
    Bradshaw KD, Carr BR.
    Obstet Gynecol Surv; 1986 Jul 22; 41(7):401-13. PubMed ID: 3531932
    [Abstract] [Full Text] [Related]

  • 25. Screening of maternal serum for fetal Down's syndrome in the first trimester.
    Haddow JE, Palomaki GE, Knight GJ, Williams J, Miller WA, Johnson A.
    N Engl J Med; 1998 Apr 02; 338(14):955-61. PubMed ID: 9521983
    [Abstract] [Full Text] [Related]

  • 26. 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 02; 116(3):456-8. PubMed ID: 11231321
    [Abstract] [Full Text] [Related]

  • 27. [The enzyme arylsulfatase C and steroid sulfatase as biochemical markers and pathogenetic factors in X-chromosome recessively inherited ichthyosis].
    Schlenzka K.
    Dermatol Monatsschr; 1983 Mar 02; 169(10):621-4. PubMed ID: 6580240
    [No Abstract] [Full Text] [Related]

  • 28. Second trimester screening for Down's syndrome using maternal serum dimeric inhibin A.
    Haddow JE, Palomaki GE, Knight GJ, Foster DL, Neveux LM.
    J Med Screen; 1998 Mar 02; 5(3):115-9. PubMed ID: 9795869
    [Abstract] [Full Text] [Related]

  • 29. Experience on triple markers serum screening for Down's syndrome fetus in Hat Yai, Regional Hospital.
    Lamlertkittikul S, Chandeying V.
    J Med Assoc Thai; 2007 Oct 02; 90(10):1970-6. PubMed ID: 18041410
    [Abstract] [Full Text] [Related]

  • 30. 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 02; 119(4):972-5. PubMed ID: 12406347
    [Abstract] [Full Text] [Related]

  • 31. SURUSS in perspective.
    Wald NJ, Rodeck C, Hackshaw AK, Rudnicka A.
    Semin Perinatol; 2005 Aug 02; 29(4):225-35. PubMed ID: 16104673
    [Abstract] [Full Text] [Related]

  • 32. 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]

  • 33. 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]

  • 34. [The genetics and molecular genetics of X-chromosomal recessive ichthyosis].
    Herrmann FH.
    Dermatol Monatsschr; 1989 Sep 01; 175(4):197-202. PubMed ID: 2659403
    [Abstract] [Full Text] [Related]

  • 35. Antenatal screening for Down's syndrome.
    Wald NJ, Kennard A, Hackshaw A, McGuire A.
    J Med Screen; 1997 Sep 01; 4(4):181-246. PubMed ID: 9494915
    [Abstract] [Full Text] [Related]

  • 36. [Noninvasive serum test for prenatal detection of Down syndrome, other chromosome abnormalities and open neural tube defects--a prospective study].
    Zwahr C, Voss P, Kistner G.
    Geburtshilfe Frauenheilkd; 1994 Jun 01; 54(6):355-61. PubMed ID: 7522195
    [Abstract] [Full Text] [Related]

  • 37. 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 01; 95(1):16-9. PubMed ID: 2366000
    [Abstract] [Full Text] [Related]

  • 38. [Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].
    Wang SJ, Gao ZY, Lu YP, Li YL, You YQ, Zhang LW, Wang LX, Xu H.
    Zhonghua Fu Chan Ke Za Zhi; 2012 Nov 01; 47(11):808-12. PubMed ID: 23302119
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Implementation of an antenatal serum screening programme for Down's syndrome in two districts (Brighton and Eastbourne). The Brighton and Eastbourne Down's Syndrome Screening Group.
    Piggott M, Wilkinson P, Bennett J.
    J Med Screen; 1994 Jan 12; 1(1):45-9. PubMed ID: 8790485
    [Abstract] [Full Text] [Related]

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