Disease: Smith-Lemli-Opitz syndrome- type 2
- 7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
- A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis
- A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome
- Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
- Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome
- Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients
- Auditory phenotype of Smith-Lemli-Opitz syndrome
- Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome
- Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates
- Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients
- Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
- Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020)
- Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C
- Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders
- Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations
- Cholesterol regulates insulin-induced mTORC1 signaling
- Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study
- Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome
- Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome
- Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis
- Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population
- Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome
- Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
- Desmosterol and 7-dehydrocholesterol concentrations in post mortem brains of depressed people: The role of trazodone
- Desmosterolosis and desmosterol homeostasis in the developing mouse brain
- Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics
- DHCR7 links cholesterol synthesis with neuronal development and axonal integrity
- Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations
- Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis
- Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report
- Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism
- EDITOR'S PERSPECTIVE: On the verge of translation: Combined cholesterol-antioxidant supplementation as a potential therapeutic intervention for Smith-Lemli-Opitz syndrome
- Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters
- Effective sample preparation procedure for the analysis of free neutral steroids, free steroid acids and sterol sulfates in different tissues by GC-MS
- Electrochemical nonenzymatic sensor for cholesterol determination in food
- Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases
- Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases
- Familial <em>DHCR7</em> genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly
- Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly
- Fetal Pancake Kidney: Prenatal Diagnosis and Postnatal Follow-up
- FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening
- GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification
- Generation and validation of a conditional knockout mouse model for desmosterolosis
- Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome
- Genetic innovations and our understanding of stillbirth
- How to Manage Low Estriol Levels in Pregnancies, One Center Experience
- Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
- Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation
- Imaging of the Ciliary Cholesterol Underlying the Sonic Hedgehog Signal Transduction
- Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
- Intraluminal Pulmonary Vein Stenosis in Children: A "New" Lesion
- Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?
- Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing
- John M Opitz: Physician, morphologist, scholar, editor (1935-2023)
- Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays
- Late endosomal/lysosomal accumulation of a neurotransmitter receptor in a cellular model of Smith-Lemli-Opitz syndrome
- Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome
- Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome
- MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome
- Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders
- Maternal aripiprazole exposure interacts with 7-dehydrocholesterol reductase mutations and alters embryonic neurodevelopment
- Maternal cariprazine exposure inhibits embryonic and postnatal brain cholesterol biosynthesis
- Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome
- Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients
- Neuronal Dysfunction Associated with Cholesterol Deregulation
- 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
- Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention
- Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome
- Plasma oxysterol profiling in children reveals 24-hydroxycholesterol as a potential marker for Autism Spectrum Disorders
- Polydactyly
- Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics
- Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis
- Research Trends of Vitamin D Metabolism Gene Polymorphisms Based on a Bibliometric Investigation
- Smith-Lemli-Opitz Syndrome
- Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern
- Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report
- Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis
- Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience
- Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
- Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
- Smith-Lemli-Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
- Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up
- Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
- Statins for Smith-Lemli-Opitz syndrome
- Statins for Smith-Lemli-Opitz syndrome
- Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model
- Sterol biosynthesis regulates TLR signaling and the innate immune response in Smith-Lemli-Opitz syndrome model
- Sterol dysregulation in Smith-Lemli-Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk
- Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis
- Subcellular localization of sterol biosynthesis enzymes
- SULFATION PATHWAYS: Alternate steroid sulfation pathways targeted by LC-MS/MS analysis of disulfates: application to prenatal diagnosis of steroid synthesis disorders
- Syndromes associated with holoprosencephaly
- TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
- Temporal changes in the brain lipidome during neurodevelopment of Smith-Lemli-Opitz syndrome mice
- Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome
- The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review
- Transcriptomic Changes Associated with Loss of Cell Viability Induced by Oxysterol Treatment of a Retinal Photoreceptor-Derived Cell Line: An In Vitro Model of Smith-Lemli-Opitz Syndrome
- Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult
- Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy
- Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis