Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

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Malformation syndromes caused by disorders of cholesterol synthesis

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

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The Smith-Lemli-Opitz syndrome

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Cholesterol in myelin biogenesis and hypomyelinating disorders

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I NBORN E RRORS OF S TEROL B IOSYNTHESIS

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Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

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Teratogenic causes of malformations.

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The ins and outs of cholesterol in the vertebrate retina

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Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

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Cholesterol Precursors Stabilize Ordinary and Ceramide-rich Ordered Lipid Domains (Lipid Rafts) to Different Degrees

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Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

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Origin of cholesterol in myelin

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Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

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Cholesterol and cataracts

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Closing the Gap: Identification of Human 3-Ketosteroid Reductase, the Last Unknown Enzyme of Mammalian Cholesterol Biosynthesis

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Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

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Human malformation syndromes due to inborn errors of cholesterol synthesis

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High doses of simvastatin, pravastatin, and cholesterol reduce brain cholesterol synthesis in guinea pigs

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Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

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The role of cholesterol in rod outer segment membranes

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Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase

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Inborn Errors of Cholesterol Biosynthesis

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Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

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An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome

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RSH/Smith–Lemli–Opitz Syndrome: A Multiple Congenital Anomaly/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis

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Smith–Lemli–Opitz syndrome

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Malformation syndromes due to inborn errors of cholesterol synthesis

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Transport of maternal LDL and HDL to the fetal membranes and placenta of the Golden Syrian hamster is mediated by receptor-dependent and receptor-independent processes

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Reduced cholesterol levels impair Smoothened activation in Smith–Lemli–Opitz syndrome

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RETIRED: Prenatal Screening for Fetal Aneuploidy

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The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols

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Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

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Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.

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Lipids in regulating oligodendrocyte structure and function

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Smith‐Lemli‐Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid

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3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

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DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model

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Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene

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Signaling by the human serotonin1A receptor is impaired in cellular model of Smith–Lemli–Opitz Syndrome

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Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome

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Pathogenesis, epidemiology, diagnosis and clinical aspects of smith-lemli-opitz syndrome

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Free radical oxidation of cholesterol and its precursors: Implications in cholesterol biosynthesis disorders

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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

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RSH (so-called Smith-Lemli-Opitz) syndrome

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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

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Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin.

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In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

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Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

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Where Does Fetal and Embryonic Cholesterol Originate and What Does It Do?

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Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

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Mutations in the human DHCR7 gene

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Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome

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Transport of maternal cholesterol to the fetus is affected by maternal plasma cholesterol concentrations in the Golden Syrian hamster

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Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

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Untitled work

(2000) · doi:10.1002/1098-2779(2000)6:2

Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans

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CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS

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Abnormal serotonergic development in a mouse model for the Smith–Lemli–Opitz syndrome: implications for autism

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

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RSH/Smith-Lemli-Opitz Syndrome: Mutations and Metabolic Morphogenesis

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An updated look at the analysis of unsaturated C27 sterols by gas chromatography and mass spectrometry

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Lipid–protein interactions, regulation and dysfunction of brain cholesterol

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Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments

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Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome

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Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases

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Retinal Degeneration in a Rodent Model of Smith-Lemli-Opitz Syndrome

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A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

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Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

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Desmosterolosis: a new inborn error of cholesterol biosynthesis

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Abnormal bile acids in the Smith‐Lemli‐Opitz syndrome

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Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels

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Cholesterol metabolism in the brain: importance of 24S-hydroxylation

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Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis

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Single-fiber PCR in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNAA3243G genotype

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