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
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Różdżyńska-Świątkowska A et al.
Journal of Applied Genetics, 2021
Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.
Begic N et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
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
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
Balogh I et al.
Molecular Syndromology, 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
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M et al.
Journal of Medical Genetics, 2008
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
Jezela-Stanek A et al.
Clinical Genetics, 2006
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 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
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
[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
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
Waye JS et al.
Journal of Medical Genetics, 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
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
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
Kozák L et al.
Journal of Inherited Metabolic Disease, 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
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
Ciara E et al.
European Journal of Medical Genetics, 0