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Decreased cerebral spinal fluid neurotransmitter levels in Smith‐Lemli‐Opitz syndrome

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Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex

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Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith–Lemli–Opitz syndrome

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Sampling, identification and sensory evaluation of odors of a newborn baby’s head and amniotic fluid

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A Simple PCR-Based Assay Allows Detection of a Common Mutation, IVS8-1G→C, in DHCR7 in Smith-Lemli-Opitz Syndrome

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A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith–Lemli–Opitz patients

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Accurate detection of Smith–Lemli–Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C‐7 double bond in cultured skin fibroblasts

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Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

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Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

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Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome

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Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

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Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome

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Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

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Aberrant pathways in the late stages of cholesterol biosynthesis in the rat: origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome

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Effects of Psychotropic Medication on Somatic Sterol Biosynthesis of Adult Mice

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Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith–Lemli–Opitz syndrome

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A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith–Lemli–Opitz syndrome

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Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities

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Smith–Lemli–Opitz syndrome among Arabs

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A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome

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Mouse Td ho abnormality results from double point mutations of the emopamil binding protein gene (Ebp)

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Metoprolol Inhibits Developmental Brain Sterol Biosynthesis in Mice

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Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

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Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome

Nowaczyk, M. G. J. M., Garcia, D. M., Eng, B., & Waye, J. S. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1503 · Cited by 8

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Biesecker, L. G., Kang, S.-J., Schäffer, A. A., Abbott, M., Kelley, R. I., Allen, J. C., Clericuzio, C. L., Grebe, T. A., Olney, A. H., & Graham, J. M. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.11.947 · Cited by 8

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Collins, M., Miranda, V., Rousseau, J., Kratz, L. E., & Campeau, P. M. (2020) · Bone · doi:10.1016/j.bone.2020.115601 · Cited by 7

Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis

Klouda, J., Benešová, L., Kočovský, P., & Schwarzová‐Pecková, K. (2021) · Talanta · doi:10.1016/j.talanta.2021.122260 · Cited by 7

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

Lim, P. J., Marfurt, S., Lindert, U., Opitz, L., Ndarugendamwo, T., Srikanthan, P., Poms, M., Hersberger, M., Langhans, C., Haas, D., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.662751 · Cited by 7

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Cocciadiferro, D., Mazza, T., Vecchio, D., Biagini, T., Petrizzelli, F., Agolini, E., Villani, A., Minervino, D., Martinelli, D., Rizzo, C., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2023.1307934 · Cited by 9

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

Pasta, S. Y., Akhile, O., Tabron, D., Ting, F., Shackleton, C. H. L., & Watson, G. L. (2015) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2015.07.006 · Cited by 7

Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations

Haas, D., Armbrust, S., Haas, J., Zschocke, J., Mühlmann, K., Fusch, C., & Neumann, L. M. (2005) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-0168-9 · Cited by 7

Synthesis of [3α-3H]cholesta-5,8-dien-3β-ol and tritium-labeled forms of other sterols of potential importance in the Smith-Lemli-Optiz syndrome⋆

Ruan, B. H. (2000) · Steroids · doi:10.1016/s0039-128x(99)00079-3 · Cited by 7

Acute Statin Administration Reduces Levels of Steroid Hormone Precursors

London, E., Tatsi, C., Soldin, S. J., Wassif, C. A., Backlund, P. S., Ng, D., Biesecker, L. G., & Stratakis, C. A. (2020) · Hormone and Metabolic Research · doi:10.1055/a-1099-9556 · Cited by 6

Hydrolethalus syndrome, in contrast to Smith–Lemli–Opitz syndrome, is not due to a defect in post‐squalene cholesterol biosynthesis: A case report

Rakheja, D., Cimo, M. L., Ramus, R. M., Rogers, B. B., Bennett, M. J., Boyer, P. J., & Galindo, R. L. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30190 · Cited by 6

Synthesis of Ring B Unsaturated Estriols. Confirming the Structure of a Diagnostic Analyte for Smith−Lemli−Opitz Syndrome

Guo, L., Shackleton, C. H. L., & Wilson, W. K. (2001) · Organic Letters · doi:10.1021/ol016224j · Cited by 6

A newly developed and validated LC–MS/MS method for measuring 7-dehydrocholesterol (7DHC) concentration in human skin: a tool for vitamin D photobiology research

Borecka, O., Rhodes, L. E., Webb, A. R., Dutton, J. J., & Fraser, W. D. (2022) · Photochemical & Photobiological Sciences · doi:10.1007/s43630-022-00274-4 · Cited by 5

Apport de l’échographie fœtale dans le diagnostic prénatal du syndrome de Smith–Lemli–Opitz

Dubuisson, J. B., Guibaud, L., Combourieu, D., Massardier, J., & Raudrant, D. (2008) · Gynécologie Obstétrique & Fertilité · doi:10.1016/j.gyobfe.2008.01.014 · Cited by 5

Disorders of sterol biosynthesis

Furtado, L. V., Kelley, R. I., & Opitz, J. M. (2016) · Translational Science of Rare Diseases · doi:10.3233/trd-160004 · Cited by 5

Analysis of mesenchymal cells derived from an chondrodysplasia punctuate patient and donors

Shur, I., Reish, O., Ezra, E., & Benayahu, D. (2004) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20089 · Cited by 5

Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith–Lemli–Opitz Syndrome: From Molecular Pathways to Clinical Innovations

Żukowska, A., Król, M., Kupnicka, P., Bąk, K., Janawa, K., & Chlubek, D. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26146672 · Cited by 4

High-Risk Screening and Diagnosis of Inborn Errors of Metabolism

Civallero, G., de Kremer, R., & Giugliani, R. (2018) · Journal of Inborn Errors of Metabolism and Screening · doi:10.1177/2326409818792065 · Cited by 4

DHCR7 mutations causing the Smith—Lemli—Opitz syndrome

Witsch‐Baumgartner, M. (2008) · Future Lipidology · doi:10.2217/17460875.3.5.585 · Cited by 4

Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith–Lemli–Opitz Syndrome (SLOS) Models

Korade, Ž., Anderson, A. C., Balog, M., Tallman, K. A., Porter, N. A., & Mirnics, K. (2025) · Biomolecules · doi:10.3390/biom15040562 · Cited by 3

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients

Różdżyńska‐Świątkowska, A., Ciara, E., Halat-Wolska, P., Krajewska‐Walasek, M., & Jezela‐Stanek, A. (2021) · Journal of Applied Genetics · doi:10.1007/s13353-021-00632-5 · Cited by 3

Smith-Lemli-Opitz Syndrome

Louis‐Jacques, A. F., Odibo, A. O., & Bradshaw, R. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-44548-1.00145-5 · Cited by 3

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos

Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K. L., & Herman, G. E. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp502 · Cited by 3

Smith–Lemli–Opitz Syndrome

Noah, K. K., & Tierney, E. (2024) · Springer eBooks · doi:10.1007/978-3-031-76269-7_14 · Cited by 2

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

Witsch‐Baumgartner, M., Sawyer, H., & Haas, D. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.255 · Cited by 2

Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays

Kolejakova, K. L., Petrovič, R., Futas, J., Turčáni, P., Durovcikova, D., & Chandoga, J. (2009) · General Physiology and Biophysics · doi:10.4149/gpb_2009_01_8 · Cited by 2

A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea

Oh, M.-Y., Kim, J. S., Kim, J. H., Cho, J. H., Lee, B. H., Kim, G.-H., Choi, J., & Yoo, H. (2014) · Journal of genetic medicine · doi:10.5734/jgm.2014.11.2.86 · Cited by 2

Biochemical and genetic diagnosis of Smith-Lemli-Opitz syndrome in South Africa

Solomon, G. A. E., Jones, G. R., de Jong, G., & Marais, A. D. (2015) · South African Journal of Child Health · doi:10.7196/sajch.771 · Cited by 2

Cholesterol Use in Autism Treatment

Diaz‐Stransky, A., & Tierney, E. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_147 · Cited by 2

A reliable tool for detecting 7‐dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith–Lemli–Opitz syndrome

Luo, Y., Liu, Z., Zeng, Y., Zhang, Y., Luan, Y., Ma, L., Chen, L., Zou, L., Yang, H. J., Huang, Z., et al. (2021) · Journal of Separation Science · doi:10.1002/jssc.202100594 · Cited by 8

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Scalco, F. B., Cruzes, V. M., Vendramini, R. C., Brunetti, I. L., & Moretti‐Ferreira, D. (2003) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2003001000008 · Cited by 2

Quantification of 7‐dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam‐mass spectrometry as a biochemical diagnostic marker for the smith‐lemli‐opitz syndrome

Sattler, W., Kostner, G. M., Malle, E., & Leis, H. (1995) · Rapid Communications in Mass Spectrometry · doi:10.1002/rcm.1290091313 · Cited by 10

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels

Ness, G. C., Lopez, D., Borrego, O., & Gilbert‐Barness, E. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970131)68:3 · Cited by 27

Unusual Detection of Lathosterol in Amniotic Fluids Investigated for the Determination of Cholesterol and 7-Dehydrocholesterol for Suspected Smith-Lemli-Opitz Syndrome

Gambaro, V., Farè, F., Barlocco, A., Maggi, F., Simoni, G., Dell’Acqua, L., Rusconi, C., & Roda, G. (2014) · American Journal of Analytical Chemistry · doi:10.4236/ajac.2014.54031