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Journal Abstract Search

399 related items for PubMed ID: 12224080

  • 1. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
    Loeffler J, Utermann G, Witsch-Baumgartner M.
    Prenat Diagn; 2002 Sep; 22(9):827-30. PubMed ID: 12224080
    [Abstract] [Full Text] [Related]

  • 2. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
    Waye JS, Eng B, Nowaczyk MJ.
    Prenat Diagn; 2007 Jul; 27(7):638-40. PubMed ID: 17441222
    [Abstract] [Full Text] [Related]

  • 3. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
    Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M.
    Clin Genet; 2006 Jan; 69(1):77-85. PubMed ID: 16451140
    [Abstract] [Full Text] [Related]

  • 4. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE.
    Am J Med Genet; 2000 Dec 11; 95(4):396-8. PubMed ID: 11186897
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
    Kratz LE, Kelley RI.
    Am J Med Genet; 1999 Feb 19; 82(5):376-81. PubMed ID: 10069707
    [Abstract] [Full Text] [Related]

  • 6. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
    Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD.
    Hum Mutat; 2005 Jul 19; 26(1):59. PubMed ID: 15954111
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
    Kolejáková K, Petrovic R, Futas J, Turcáni P, Durovcíková D, Chandoga J.
    Gen Physiol Biophys; 2009 Mar 19; 28(1):8-15. PubMed ID: 19390132
    [Abstract] [Full Text] [Related]

  • 8. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.
    Linck LM, Hayflick SJ, Lin DS, Battaile KP, Ginat S, Burlingame T, Gibson KM, Honda M, Honda A, Salen G, Tint GS, Connor WE, Steiner RD.
    Prenat Diagn; 2000 Mar 19; 20(3):238-40. PubMed ID: 10719329
    [Abstract] [Full Text] [Related]

  • 9. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
    Porter FD.
    Mol Genet Metab; 2000 Mar 19; 71(1-2):163-74. PubMed ID: 11001807
    [Abstract] [Full Text] [Related]

  • 10. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Mar 19; 71(1-2):154-62. PubMed ID: 11001806
    [Abstract] [Full Text] [Related]

  • 11. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
    Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD.
    Mol Genet Metab; 2004 Mar 19; 83(1-2):175-83. PubMed ID: 15464432
    [Abstract] [Full Text] [Related]

  • 12. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
    Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G.
    J Med Genet; 2008 Apr 19; 45(4):200-9. PubMed ID: 17965227
    [Abstract] [Full Text] [Related]

  • 13. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Porter FD.
    Mol Genet Metab; 2005 Feb 19; 84(2):112-26. PubMed ID: 15670717
    [Abstract] [Full Text] [Related]

  • 14. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.
    Mol Genet Metab; 2005 Jun 19; 85(2):96-107. PubMed ID: 15896653
    [Abstract] [Full Text] [Related]

  • 15. Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
    Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M.
    Eur J Med Genet; 2008 Jun 19; 51(2):124-40. PubMed ID: 18249054
    [Abstract] [Full Text] [Related]

  • 16. Mutational spectrum of Smith-Lemli-Opitz syndrome.
    Waterham HR, Hennekam RC.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):263-84. PubMed ID: 23042628
    [Abstract] [Full Text] [Related]

  • 17. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
    Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R, Clayton PT.
    Pediatr Res; 1996 May 15; 39(5):816-9. PubMed ID: 8726234
    [Abstract] [Full Text] [Related]

  • 18. Mutations in the human DHCR7 gene.
    Witsch-Baumgartner M, Löffler J, Utermann G.
    Hum Mutat; 2001 Mar 15; 17(3):172-82. PubMed ID: 11241839
    [Abstract] [Full Text] [Related]

  • 19. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
    Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE.
    Am J Med Genet; 2002 Jun 15; 110(2):103-8. PubMed ID: 12116246
    [Abstract] [Full Text] [Related]

  • 20. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
    Alkuraya FS, Picker J, Irons MB, Kimonis VE.
    Birth Defects Res A Clin Mol Teratol; 2005 Aug 15; 73(8):569-71. PubMed ID: 15965973
    [Abstract] [Full Text] [Related]

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