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527 related items for PubMed ID: 15896653

  • 1. 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; 85(2):96-107. PubMed ID: 15896653
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  • 2. 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 Jun; 83(1-2):175-83. PubMed ID: 15464432
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  • 3. 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 Jun; 71(1-2):163-74. PubMed ID: 11001807
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  • 4. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Porter FD.
    Mol Genet Metab; 2005 Feb; 84(2):112-26. PubMed ID: 15670717
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  • 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; 26(1):59. PubMed ID: 15954111
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  • 11. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
    Correa-Cerro LS, Wassif CA, Kratz L, Miller GF, Munasinghe JP, Grinberg A, Fliesler SJ, Porter FD.
    Hum Mol Genet; 2006 Mar 15; 15(6):839-51. PubMed ID: 16446309
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  • 12. 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 15; 69(1):77-85. PubMed ID: 16451140
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  • 13. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
    Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M.
    Clin Genet; 2004 Dec 15; 66(6):517-24. PubMed ID: 15521979
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  • 14. 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
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  • 15. 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
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  • 16. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
    Loeffler J, Utermann G, Witsch-Baumgartner M.
    Prenat Diagn; 2002 Sep 19; 22(9):827-30. PubMed ID: 12224080
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  • 17. 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
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  • 18. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
    Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.
    Am J Hum Genet; 1998 Jul 19; 63(1):55-62. PubMed ID: 9634533
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  • 19. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H, Patel SB.
    Clin Genet; 2005 Nov 19; 68(5):383-91. PubMed ID: 16207203
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  • 20. 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 Nov 19; 51(2):124-40. PubMed ID: 18249054
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