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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
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
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
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical 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
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
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Chang S et al.
Molecular Genetics and Metabolism Reports, 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
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Roullet JB et al.
Journal of Inherited Metabolic Disease, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Kalb S et al.
Clinical Genetics, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C et al.
European Journal of Medical Genetics, 2012
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 2011
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
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M et al.
Journal of Medical Genetics, 2008
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
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
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Molecular Genetics and Metabolism, 2005
Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome.
Babovic-Vuksanovic D et al.
Journal of Inherited Metabolic Disease, 2005
A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
Shim YH et al.
Biochemical and Biophysical Research Communications, 2004
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
Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome.
Chemaitilly W et al.
Hormone Research, 2003
[Molecular analysis of Wilson disease].
Vrábelová S et al.
Casopis Lekaru Ceskych, 2002
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
Loeffler J et al.
Prenatal Diagnosis, 2002
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
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.
Bzdúch V et al.
American Journal of Medical Genetics, 2000
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
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
Kozák L et al.
Journal of Inherited Metabolic Disease, 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
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
Patrono C 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
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
De Brasi D et al.
European Journal of Human Genetics : Ejhg, 1999
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