Title: Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics 20121115
Title: Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Journal: The British journal of dermatology 20120401
Title: Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Journal: European journal of medical genetics 20120201
Title: Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.
Journal: Biochimica et biophysica acta 20111201
Title: Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
Journal: PLoS genetics 20110901
Title: Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.
Journal: Dermato-endocrinology 20110101
Title: Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome.
Journal: The Analyst 20100401
Title: The effects of sterol structure upon sterol esterification.
Journal: Atherosclerosis 20100101
Title: Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Journal: The Journal of steroid biochemistry and molecular biology 20090801
Title: Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.
Journal: Journal of inherited metabolic disease 20081201
Title: Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome.
Journal: Clinical chemistry 20080801
Title: High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
Journal: Journal of dermatological science 20080701
Title: Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome.
Journal: Biochimica et biophysica acta 20080601
Title: Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 20080101
Title: Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
Journal: Acta dermato-venereologica 20080101
Title: Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
Journal: European journal of medical genetics 20080101
Title: Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Journal: Journal of inherited metabolic disease 20070601
Title: Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.
Journal: BMC developmental biology 20070101
Title: Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism.
Journal: Bioinformation 20070101
Title: The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20060715
Title: Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit.
Journal: Prenatal diagnosis 20051101
Title: Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
Journal: Journal of inherited metabolic disease 20050101
Title: Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
Journal: Pediatric research 20041101
Title: MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.
Journal: Neuroradiology 20040101
Title: The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production.
Journal: Steroids 20040101
Title: Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.
Journal: Klinische Padiatrie 20040101
Title: Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Journal: Molecular genetics and metabolism 20040101
Title: Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20030915
Title: 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.
Journal: Steroids 20030801
Title: Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
Journal: American journal of medical genetics. Part A 20030130
Title: X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
Journal: American journal of medical genetics. Part A 20030130
Title: Simvastatin treatment in the SLO syndrome: a safe approach?
Journal: American journal of medical genetics 20021122
Title: Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome).
Journal: The Journal of steroid biochemistry and molecular biology 20021001
Title: Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.
Journal: The Journal of investigative dermatology 20020501
Title: Influence of simvastatin, pravastatin, and BM 15.766 on neutral sterols in liver and testis of guinea pigs.
Journal: Metabolism: clinical and experimental 20020401
Title: Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20020125
Title: Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis.
Journal: Journal of lipid research 20010701
Title: Sterols in blood of normal and Smith-Lemli-Opitz subjects.
Journal: Journal of lipid research 20010501
Title: Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.
Journal: Journal of lipid research 20010301
Title: Batta AK, et al. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. J Lipid Res. 1995 Apr;36(4):705-13.
