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
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
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
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Kritzer A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.
Chen Y et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Różdżyńska-Świątkowska A et al.
Journal of Applied Genetics, 2021
Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
Koczok K et al.
Biomolecules, 2021
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park JE et al.
Orphanet Journal of Rare Diseases, 2021
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.
Zaidi AH et al.
Children (basel, Switzerland), 2021
Genetic innovations and our understanding of stillbirth.
Wilkins-Haug L
Human Genetics, 2020
Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.
Chrzanowska-Steglińska M et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 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
Smith-Lemli-Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report.
Mitra A et al.
Ajp Reports, 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
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.
Korade Z et al.
Journal of Lipid Research, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
Prosnitz AR et al.
Congenital Heart Disease, 2017
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
Lazarin GA et al.
Prenatal Diagnosis, 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
Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.
Prabhu AV et al.
The Journal of Biological Chemistry, 2016
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Blassberg R et al.
Human Molecular Genetics, 2016
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
Witsch-Baumgartner M et al.
European Journal of Human Genetics : Ejhg, 2015
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
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
Oláh AV et al.
European Journal of Pediatrics, 2013
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
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ 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
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Roullet JB et al.
Journal of Inherited Metabolic Disease, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C et al.
European Journal of Medical Genetics, 2012
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Ren G et al.
Molecular Genetics and Metabolism, 2011
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 2011
Smith-Lemli-Opitz syndrome.
DeBarber AE et al.
Expert Reviews in Molecular Medicine, 2011
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD et al.
Journal of Lipid Research, 2011
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
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
Garry D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2010
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.
Tierney E et al.
American Journal of Medical Genetics. Part A, 2010
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
Ko JS et al.
Journal of Korean Medical Science, 2010
X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
Jezela-Stanek A et al.
Clinical Dysmorphology, 2009