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
Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.
Chen Y et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
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
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
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE et al.
Journal of Inherited Metabolic Disease, 2014
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Ren G et al.
Molecular Genetics and Metabolism, 2011
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 2011
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
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D et al.
Journal of Inherited Metabolic Disease, 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
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 2005
Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
Anstey AV et al.
The British Journal of Dermatology, 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
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Molecular Genetics and Metabolism, 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
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
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
Yu H et al.
Human Molecular 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
RSH (so-called Smith-Lemli-Opitz) syndrome.
Opitz JM
Current Opinion in Pediatrics, 1999
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
Fitzky BU et al.
Current Opinion in Lipidology, 1999
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
Fitzky BU et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
Jezela-Stanek A et al.
European Journal of Medical Genetics, 0