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
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
Genetic innovations and our understanding of stillbirth.
Wilkins-Haug L
Human Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
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
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Tamura M et al.
Human Genome Variation, 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
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.
Bianconi SE et al.
Expert Opinion on Orphan Drugs, 2015
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Kalb S et al.
Clinical Genetics, 2012
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek A et al.
Journal of Inherited Metabolic Disease, 2010
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
Kolejáková K et al.
General Physiology and Biophysics, 2009
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
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
Waye JS et al.
Prenatal Diagnosis, 2007
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 2005
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Molecular Genetics and Metabolism, 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
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE et al.
Annals of Human Genetics, 2003
DHCR7 and Smith-Lemli-Opitz syndrome.
Nowaczyk MJ et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2001
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
Nowaczyk MJ et al.
Clinical Genetics, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Witsch-Baumgartner M et al.
European Journal of Human Genetics : Ejhg, 2001
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
Krakowiak PA et al.
American Journal of Medical Genetics, 2000
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M et al.
American Journal of Human Genetics, 2000