Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Eroglu Y et al.
American Journal of Medical Genetics. Part A, 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
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE et al.
Journal of Inherited Metabolic Disease, 2014
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Chang S et al.
Molecular Genetics and Metabolism Reports, 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
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
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
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
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
Nezarati MM et al.
American Journal of Medical Genetics, 2002
DHCR7 and Smith-Lemli-Opitz syndrome.
Nowaczyk MJ et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2001
Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.
Witsch-Baumgartner M et al.
American Journal of Medical Genetics, 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
Biochemical variants of Smith-Lemli-Opitz syndrome.
Neklason DW et al.
American Journal of Medical Genetics, 1999
Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
Opitz JM et al.
Pediatric Pathology & Molecular Medicine, 0