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Journal Abstract Search

274 related items for PubMed ID: 11230174

  • 1. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
    Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD.
    Hum Mol Genet; 2001 Mar 15; 10(6):555-64. PubMed ID: 11230174
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  • 3. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
    Fitzky BU, Moebius FF, Asaoka H, Waage-Baudet H, Xu L, Xu G, Maeda N, Kluckman K, Hiller S, Yu H, Batta AK, Shefer S, Chen T, Salen G, Sulik K, Simoni RD, Ness GC, Glossmann H, Patel SB, Tint GS.
    J Clin Invest; 2001 Sep 15; 108(6):905-15. PubMed ID: 11560960
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  • 7. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
    Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD.
    Am J Med Genet; 2000 Sep 18; 94(3):214-27. PubMed ID: 10995508
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  • 9. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
    Waterham HR, Wanders RJ.
    Biochim Biophys Acta; 2000 Dec 15; 1529(1-3):340-56. PubMed ID: 11111101
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  • 11. 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
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  • 12. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
    Prasad C, Marles S, Prasad AN, Nikkel S, Longstaffe S, Peabody D, Eng B, Wright S, Waye JS, Nowaczyk MJ.
    Am J Med Genet; 2002 Feb 15; 108(1):64-8. PubMed ID: 11857552
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  • 14. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Porter FD.
    Mol Genet Metab; 2005 Feb 15; 84(2):112-26. PubMed ID: 15670717
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  • 15. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).
    Marcos J, Shackleton CH, Buddhikot MM, Porter FD, Watson GL.
    Steroids; 2007 Oct 15; 72(11-12):802-8. PubMed ID: 17714750
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  • 16. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Oct 15; 71(1-2):154-62. PubMed ID: 11001806
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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 15; 63(1):55-62. PubMed ID: 9634533
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  • 19. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
    Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD.
    Am J Med Genet; 2001 Sep 15; 103(1):75-80. PubMed ID: 11562938
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  • 20. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
    Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD.
    Am J Med Genet; 2001 Jul 22; 102(1):18-20. PubMed ID: 11471166
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