Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

Genotype-based databases for variants causing rare diseases

(2014) Barbara Lanthaler et al.   GENE

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

(2014) S. E. Sparks et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1

(2014) Sandeep Goyal et al.   JOURNAL OF LIPID RESEARCH

Feeding Impairments Associated with Plasma Sterols in Smith-Lemli-Opitz Syndrome

(2014) Mark J. Merkens et al.   JOURNAL OF PEDIATRICS

Analysis by liquid chromatography–mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7Δ3-5/T93M mouse: A model of Smith–Lemli–Opitz syndrome

(2013) Anna Meljon et al.   BIOCHEMICAL PHARMACOLOGY

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome

(2013) Zeljka Korade et al.   BIOLOGICAL PSYCHIATRY

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome

(2013) M.S. Ellingson et al.   CLINICAL GENETICS

Challenging Behavior in Smith-Lemli-Opitz Syndrome

(2013) Kurt A. Freeman et al.   Cognitive and Behavioral Neurology

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells

(2013) Libin Xu et al.   JOURNAL OF LIPID RESEARCH

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz Syndrome

(2013) Patricia Hall et al.   MOLECULAR GENETICS AND METABOLISM

Membrane Cholesterol Removal Changes Mechanical Properties of Cells and Induces Secretion of a Specific Pool of Lysosomes

(2013) Barbara Hissa et al.   PLoS One

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype

(2012) Małgorzata J.M. Nowaczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome

(2012) Andrea Diaz-Stransky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutational spectrum of Smith-Lemli-Opitz syndrome

(2012) Hans R. Waterham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

(2012) Małgorzata J.M. Nowaczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Differential Effect of Cholesterol and Its Biosynthetic Precursors on Membrane Dipole Potential

(2012) Sourav Haldar et al.   BIOPHYSICAL JOURNAL

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

(2012) Barbara Lanthaler et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC–FID to diagnose the Smith–Lemli–Opitz syndrome

(2012) Monica Gelzo et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Prevalence of sleep problems in Smith-Lemli-Opitz syndrome

(2011) Marcin Zarowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adrenal function in Smith-Lemli-Opitz syndrome

(2011) Simona E. Bianconi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stability study of dehydrocholesterols in dried spot of blood from patients with Smith–Lemli–Opitz syndrome, using filter-paper treated with butylated hydroxytoluene

(2011) Monica Gelzo et al.   CLINICA CHIMICA ACTA

Smith-Lemli-Opitz syndrome among Arabs

(2011) M Al-Owain et al.   CLINICAL GENETICS

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

(2011) Chloé Quélin et al.   European Journal of Medical Genetics

Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith–Lemli–Opitz syndrome

(2011) Gongyi Ren et al.   MOLECULAR GENETICS AND METABOLISM

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

(2010) David D. Weaver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome

(2010) Mary F. Lachman et al.   CLINICAL GENETICS

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome

(2010) Zeljka Korade et al.   JOURNAL OF LIPID RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome

(2009) Elaine Tierney et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Central nervous system: cholesterol turnover, brain development and neurodegeneration

(2009) John M. Dietschy   BIOLOGICAL CHEMISTRY

A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

(2009) Gabriella P. Szabó et al.   EUROPEAN JOURNAL OF PEDIATRICS

A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

(2009) Jae Sung Ko et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome

(2009) Yen-Ming Chan et al.   PEDIATRIC RESEARCH

Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: Results for 10 years in Japan

(2009) Hiroshi Nittono et al.   PEDIATRICS INTERNATIONAL

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

(2008) Yamuna Devi Paila et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

(2008) Forbes D Porter   EUROPEAN JOURNAL OF HUMAN GENETICS

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome

(2008) M. L. Lindegaard et al.   HUMAN MOLECULAR GENETICS

Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome

(2008) Kathleen Boesze-Battaglia et al.   JOURNAL OF LIPID RESEARCH