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Journal Abstract Search

239 related items for PubMed ID: 15521979

  • 1. 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; 66(6):517-24. PubMed ID: 15521979
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  • 2. Mutations in the human DHCR7 gene.
    Witsch-Baumgartner M, Löffler J, Utermann G.
    Hum Mutat; 2001 Mar; 17(3):172-82. PubMed ID: 11241839
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  • 6. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
    Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Goryluk-Kozakiewicz B, Nowaczyk MJ, Krajewska-Walasek M.
    Eur J Med Genet; 2006 Mar; 49(6):499-504. PubMed ID: 16497572
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  • 7. 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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  • 8. 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 Jul; 51(2):124-40. PubMed ID: 18249054
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  • 12. 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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  • 13. 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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