Associated Papers
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.
Zaidi AH et al.
Children (basel, Switzerland), 2021
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
Prosnitz AR et al.
Congenital Heart Disease, 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
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Cross JL et al.
Clinical Genetics, 2015
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 2011
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
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
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Molecular Genetics and Metabolism, 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
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
Nowaczyk MJ 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
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