Associated Papers
Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.
Kovács E et al.
Genes, 2026
Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.
Kozera N et al.
Journal of Clinical Medicine, 2025
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A et al.
International Journal of Molecular Sciences, 2025
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Kritzer A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park JE et al.
Orphanet Journal of Rare Diseases, 2021
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.
Subaran RL et al.
Human Mutation, 2020
Genetic innovations and our understanding of stillbirth.
Wilkins-Haug L
Human Genetics, 2020
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Schoner K et al.
Birth Defects Research, 2020
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Peng Y et al.
International Journal of Molecular Sciences, 2018
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
Lazarin GA et al.
Prenatal Diagnosis, 2017
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR et al.
The Pharmacogenomics Journal, 2016
Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.
Prabhu AV et al.
The Journal of Biological Chemistry, 2016
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Blassberg R et al.
Human Molecular Genetics, 2016
Characterization of large deletions in the DHCR7 gene.
Lanthaler B et al.
Clinical Genetics, 2015
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE et al.
Journal of Inherited Metabolic Disease, 2014
Photosensitivity disorders in children: part II.
Chantorn R et al.
Journal of the American Academy of Dermatology, 2012
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
Balogh I et al.
Molecular Syndromology, 2012
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Roullet JB et al.
Journal of Inherited Metabolic Disease, 2012
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 2011
Smith-Lemli-Opitz syndrome.
DeBarber AE et al.
Expert Reviews in Molecular Medicine, 2011
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
Garry D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2010
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.
Tierney E et al.
American Journal of Medical Genetics. Part A, 2010
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
Ko JS et al.
Journal of Korean Medical Science, 2010
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M et al.
Journal of Medical Genetics, 2008
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome.
Goodwin H et al.
American Journal of Medical Genetics. Part A, 2008
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
Jong Hee Chae et al.
Journal of Child Neurology, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D et al.
Journal of Inherited Metabolic Disease, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Haas D et al.
Journal of Medical Genetics, 2007
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
Pappu AS et al.
Journal of Lipid Research, 2006
Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase.
Koide T et al.
Development (cambridge, England), 2006
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 2005
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
Scalco FB et al.
American Journal of Medical Genetics. Part A, 2005
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
Wassif CA et al.
Molecular Genetics and Metabolism, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Witsch-Baumgartner M et al.
Human Mutation, 2005
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Journal of Medical Genetics, 2005
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Molecular Genetics and Metabolism, 2005
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
Rossi M et al.
American Journal of Medical Genetics. Part A, 2005
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Matsumoto Y et al.
Journal of Human Genetics, 2005
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
Mueller C et al.
American Journal of Medical Genetics. Part A, 2003
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE et al.
Annals of Human Genetics, 2003
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
Loeffler J et al.
Prenatal Diagnosis, 2002
Malformation syndromes due to inborn errors of cholesterol synthesis.
Porter FD
The Journal of Clinical Investigation, 2002