BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

472 related articles for article (PubMed ID: 26976653)

  • 21. Vitamin D levels in Smith-Lemli-Opitz syndrome.
    Movassaghi M; Bianconi S; Feinn R; Wassif CA; Porter FD
    Am J Med Genet A; 2017 Oct; 173(10):2577-2583. PubMed ID: 28796426
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome.
    Meljon A; Watson GL; Wang Y; Shackleton CH; Griffiths WJ
    Biochem Pharmacol; 2013 Jul; 86(1):43-55. PubMed ID: 23500538
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.
    Steiner RD; Linck LM; Flavell DP; Lin DS; Connor WE
    J Lipid Res; 2000 Sep; 41(9):1437-47. PubMed ID: 10974051
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.
    Björkhem I; Starck L; Andersson U; Lütjohann D; von Bahr S; Pikuleva I; Babiker A; Diczfalusy U
    J Lipid Res; 2001 Mar; 42(3):366-71. PubMed ID: 11254748
    [TBL] [Abstract][Full Text] [Related]  

  • 26. LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.
    Becker S; Röhnike S; Empting S; Haas D; Mohnike K; Beblo S; Mütze U; Husain RA; Thiery J; Ceglarek U
    Anal Bioanal Chem; 2015 Jul; 407(17):5227-33. PubMed ID: 25963649
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. [Historical aspects of the Smith-Lemli-Opitz syndrome].
    Bzdúch V; Behúlová D; Skodová J; Skokňová M; Kozák L
    Cas Lek Cesk; 2014; 153(1):36-9. PubMed ID: 24506692
    [TBL] [Abstract][Full Text] [Related]  

  • 29. DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.
    Xu L; Mirnics K; Bowman AB; Liu W; Da J; Porter NA; Korade Z
    Neurobiol Dis; 2012 Mar; 45(3):923-9. PubMed ID: 22182693
    [TBL] [Abstract][Full Text] [Related]  

  • 30. An efficient synthesis of 4α- and 4β-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome.
    Kawamoto H; Ohmori Y; Maekawa M; Shimada M; Mano N; Iida T
    Chem Phys Lipids; 2013; 175-176():73-8. PubMed ID: 23920082
    [TBL] [Abstract][Full Text] [Related]  

  • 31. No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
    Roullet JB; Merkens LS; Pappu AS; Jacobs MD; Winter R; Connor WE; Steiner RD
    J Inherit Metab Dis; 2012 Sep; 35(5):859-69. PubMed ID: 22391996
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome.
    Paglia G; D'Apolito O; Gelzo M; Dello Russo A; Corso G
    Analyst; 2010 Apr; 135(4):789-96. PubMed ID: 20349543
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.
    Romano F; Fiore B; Pezzino FM; Longombardo MT; Cefalù AB; Noto D; Puglisi A; Brogna A; Mattina T; Averna M; Travali S
    Mol Diagn; 2005; 9(4):201-4. PubMed ID: 16392899
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
    Wassif CA; Kratz L; Sparks SE; Wheeler C; Bianconi S; Gropman A; Calis KA; Kelley RI; Tierney E; Porter FD
    Genet Med; 2017 Mar; 19(3):297-305. PubMed ID: 27513191
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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; 108(1):64-8. PubMed ID: 11857552
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
    Guzzetta V; De Fabiani E; Galli G; Colombo C; Corso G; Lecora M; Parenti G; Strisciuglio P; Andria G
    Acta Paediatr; 1996 Aug; 85(8):937-42. PubMed ID: 8863875
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
    Merkens LS; Connor WE; Linck LM; Lin DS; Flavell DP; Steiner RD
    Pediatr Res; 2004 Nov; 56(5):726-32. PubMed ID: 15319461
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
    Nowaczyk MJ; McCaughey D; Whelan DT; Porter FD
    Am J Med Genet; 2001 Jul; 102(1):18-20. PubMed ID: 11471166
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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; 72(11-12):802-8. PubMed ID: 17714750
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 24.