BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 10405455)

  • 1. Biochemical variants of Smith-Lemli-Opitz syndrome.
    Neklason DW; Andrews KM; Kelley RI; Metherall JE
    Am J Med Genet; 1999 Aug; 85(5):517-23. PubMed ID: 10405455
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
    Anderson AJ; Stephan MJ; Walker WO; Kelley RI
    Am J Med Genet; 1998 Aug; 78(5):413-8. PubMed ID: 9714006
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 108(6):905-15. PubMed ID: 11560960
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 71(1-2):163-74. PubMed ID: 11001807
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Smith-Lemli-Opitz syndrome and the DHCR7 gene.
    Jira PE; Waterham HR; Wanders RJ; Smeitink JA; Sengers RC; Wevers RA
    Ann Hum Genet; 2003 May; 67(Pt 3):269-80. PubMed ID: 12914579
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 63(1):55-62. PubMed ID: 9634533
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver.
    Honda A; Salen G; Shefer S; Batta AK; Honda M; Xu G; Tint GS; Matsuzaki Y; Shoda J; Tanaka N
    J Lipid Res; 1999 Aug; 40(8):1520-8. PubMed ID: 10428990
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
    Salen G; Tint GS; Xu G; Batta AK; Irons M; Elias ER
    Ital J Gastroenterol; 1995 Dec; 27(9):506-8. PubMed ID: 8919321
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
    Cunniff C; Kratz LE; Moser A; Natowicz MR; Kelley RI
    Am J Med Genet; 1997 Jan; 68(3):263-9. PubMed ID: 9024557
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
    Waterham HR; Wanders RJ
    Biochim Biophys Acta; 2000 Dec; 1529(1-3):340-56. PubMed ID: 11111101
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.
    Linck LM; Lin DS; Flavell D; Connor WE; Steiner RD
    Am J Med Genet; 2000 Aug; 93(5):360-5. PubMed ID: 10951458
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 83(1-2):175-83. PubMed ID: 15464432
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
    Koo G; Conley SK; Wassif CA; Porter FD
    Am J Med Genet A; 2010 Aug; 152A(8):2094-8. PubMed ID: 20635399
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.
    Scalco FB; Cruzes VM; Vendramini RC; Brunetti IL; Moretti-Ferreira D
    Braz J Med Biol Res; 2003 Oct; 36(10):1327-32. PubMed ID: 14502364
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA; Vied D; Tsokos M; Connor WE; Steiner RD; Porter FD
    Mol Genet Metab; 2002 Apr; 75(4):325-34. PubMed ID: 12051964
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.
    Elias ER; Irons M
    Curr Opin Pediatr; 1995 Dec; 7(6):710-4. PubMed ID: 8776024
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts.
    Honda M; Tint GS; Honda A; Nguyen LB; Chen TS; Shefer S
    J Lipid Res; 1998 Mar; 39(3):647-57. PubMed ID: 9548596
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.