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 *

212 related articles for article (PubMed ID: 23798009)

  • 21. Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
    Rossi M; Vajro P; Iorio R; Battagliese A; Brunetti-Pierri N; Corso G; Di Rocco M; Ferrari P; Rivasi F; Vecchione R; Andria G; Parenti G
    Am J Med Genet A; 2005 Jan; 132A(2):144-51. PubMed ID: 15580635
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.
    Gondré-Lewis MC; Petrache HI; Wassif CA; Harries D; Parsegian A; Porter FD; Loh YP
    J Cell Sci; 2006 May; 119(Pt 9):1876-85. PubMed ID: 16636072
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Generation and validation of a conditional knockout mouse model for desmosterolosis.
    Kanuri B; Fong V; Ponny SR; Weerasekera R; Pulakanti K; Patel KS; Tyshynsky R; Patel SB
    J Lipid Res; 2021; 62():100028. PubMed ID: 33524375
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Desmosterolosis and desmosterol homeostasis in the developing mouse brain.
    Allen LB; Genaro-Mattos TC; Porter NA; Mirnics K; Korade Z
    J Inherit Metab Dis; 2019 Sep; 42(5):934-943. PubMed ID: 30891795
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities.
    Nissinen MJ; Gylling H; Kaski M; Tammisto P; Mieskonen S; Ignatius J; Miettinen TA
    J Lab Clin Med; 2000 Dec; 136(6):457-67. PubMed ID: 11128747
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
    Svoboda MD; Christie JM; Eroglu Y; Freeman KA; Steiner RD
    Am J Med Genet C Semin Med Genet; 2012 Nov; 160C(4):285-94. PubMed ID: 23042642
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
    Herman GE
    Hum Mol Genet; 2003 Apr; 12 Spec No 1():R75-88. PubMed ID: 12668600
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Congenital brain anomalies in distal cholesterol biosynthesis defects.
    Hennekam RC
    J Inherit Metab Dis; 2005; 28(3):385-92. PubMed ID: 15868470
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H; Patel SB
    Clin Genet; 2005 Nov; 68(5):383-91. PubMed ID: 16207203
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Inborn errors of sterol biosynthesis.
    Kelley RI; Herman GE
    Annu Rev Genomics Hum Genet; 2001; 2():299-341. PubMed ID: 11701653
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
    Irons M; Elias ER; Tint GS; Salen G; Frieden R; Buie TM; Ampola M
    Am J Med Genet; 1994 May; 50(4):347-52. PubMed ID: 8209913
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience.
    Corso G; Gelzo M; Barone R; Clericuzio S; Pianese P; Nappi A; Dello Russo A
    Clin Chem Lab Med; 2011 Aug; 49(12):2039-46. PubMed ID: 21864209
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome.
    Yu H; Wessels A; Chen J; Phelps AL; Oatis J; Tint GS; Patel SB
    BMC Dev Biol; 2004 Feb; 4():1. PubMed ID: 15005800
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor.
    Tallman KA; Kim HH; Korade Z; Genaro-Mattos TC; Wages PA; Liu W; Porter NA
    Redox Biol; 2017 Aug; 12():182-190. PubMed ID: 28258022
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetic disorders of cholesterol biosynthesis in mice and humans.
    Nwokoro NA; Wassif CA; Porter FD
    Mol Genet Metab; 2001; 74(1-2):105-19. PubMed ID: 11592808
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
    Witsch-Baumgartner M; Gruber M; Kraft HG; Rossi M; Clayton P; Giros M; Haas D; Kelley RI; Krajewska-Walasek M; Utermann G
    J Med Genet; 2004 Aug; 41(8):577-84. PubMed ID: 15286151
    [TBL] [Abstract][Full Text] [Related]  

  • 40. X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.
    Martanová H; Krepelová A; Baxová A; Hansíková H; Cánský Z; Kvapil M; Gregor V; Magner M; Zeman J
    Prague Med Rep; 2007; 108(3):263-9. PubMed ID: 18399064
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.