These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

468 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.