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
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A et al.
International Journal of Molecular Sciences, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.
Yılmaz M et al.
Molecular Syndromology, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.
Korade Z et al.
Journal of Lipid Research, 2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
Lazarin GA et al.
Prenatal Diagnosis, 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
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
Oláh AV et al.
European Journal of Pediatrics, 2013
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Kalb S et al.
Clinical Genetics, 2012
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
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D et al.
Journal of Inherited Metabolic Disease, 2007
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