Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

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2. Genetic Defects in Postsqualene Cholesterol Biosynthesis
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3. Single-fiber PCR in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNAA3243G genotype
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5. Cholesterol Biosynthesis from Lanosterol
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6. Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis
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7. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
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8. Identification of Environmental Quaternary Ammonium Compounds as Direct Inhibitors of Cholesterol Biosynthesis
   Josi M. Herron, Rosalyn C. Reese, Keri A. Tallman, Rohini Narayanaswamy, Ned A. Porter, Libin Xu · 2016 · Toxicological Sciences
9. Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production
   Robert D. Steiner, Leesa M. Linck, Donna P Flavell, Don S. Lin, William E. Connor · 2000 · Journal of Lipid Research
10. Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model
    Wassila Gaoua, Claude Wolf, Françoise Chevy, Françoise Ilien, Charles Roux · 2000 · Journal of Lipid Research
11. Association Between Vitamin D Metabolism Gene Polymorphisms and Risk of Islet Autoimmunity and Progression to Type 1 Diabetes: The Diabetes Autoimmunity Study in the Young (DAISY)
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12. Adrenal function in Smith–Lemli–Opitz syndrome
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13. Immune Implications of Cholesterol-Containing Lipid Nanoparticles
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14. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
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15. Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-Δ7-reductase deficiency (Smith–Lemli–Opitz syndrome)
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16. Fetal cardiac anomalies and genetic syndromes
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17. Disorders of cholesterol biosynthesis
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18. Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome
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19. Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome
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20. Smith-Lemli-Opitz Syndrome: The First Malformation Syndrome Associated with Defective Cholesterol Synthesis
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21. Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo
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22. Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts
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23. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome
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24. Inherited disorders of cholesterol biosynthesis
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25. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
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27. Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome
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28. Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome
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29. Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver
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30. Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome
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32. Analysis of Quantitative Lipid Traits in the Genetics of NIDDM (GENNID) Study
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33. The implications of 7-dehydrosterol-7-reductase deficiency (Smith–Lemli–Opitz syndrome) to neurosteroid production
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34. Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome
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35. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome
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36. Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome
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37. Sonic hedgehog signaling in craniofacial development
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38. The genetics of hypoplastic left heart syndrome
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39. Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis
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40. Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome
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41. Abnormal sterol metabolism in holoprosencephaly
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42. Annexin-1 is abnormally expressed in Fragile X syndrome: Two-dimensional electrophoresis study in lymphocytes
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43. Medication effects on developmental sterol biosynthesis
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44. Expression of SHH signaling pathway components in the developing human lung
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45. Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications
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46. Simvastatin treatment in the SLO syndrome: A safe approach?
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47. Association of Serum Cholesterol and History of School Suspension among School-age Children and Adolescents in the United States
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48. Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers
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49. Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome
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50. The sterol-based transcriptional control of human 7-dehydrocholesterol reductase (DHCR7): Evidence of a cooperative regulatory program in cholesterol synthesis
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51. Proteostatic Tactics in the Strategy of Sterol Regulation
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52. Lamin B Receptor Regulates the Growth and Maturation of Myeloid Progenitors via its Sterol Reductase Domain: Implications for Cholesterol Biosynthesis in Regulating Myelopoiesis
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55. Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
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56. Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient
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57. 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
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58. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations
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60. Associations between Polymorphisms Related to Calcium Metabolism and Human Height: The Tromsø Study
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61. 7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
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62. Low plasma total cholesterol in patients with Huntington’s disease and first-degree relatives
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63. Evaluation of the Disease Liability of CFTR Variants
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65. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol ?7-reductase activity in chorionic villi
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66. Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol‐synthesis defect Smith–Lemli–Opitz syndrome
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75. Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome
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76. Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations
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