Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
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Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic reviewFunctional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development.MicroRNAs: a connection between cholesterol metabolism and neurodegeneration.Cholesterol in brain disease: sometimes determinant and frequently implicated.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz SyndromeDevelopment, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.Identification of Environmental Quaternary Ammonium Compounds as Direct Inhibitors of Cholesterol Biosynthesis.A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.Novel associations in disorders of sex development: findings from the I-DSD Registry.Malformation syndromes associated with disorders of sex development.Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome.Brain Cholesterol Metabolism and Its Defects: Linkage to Neurodegenerative Diseases and Synaptic Dysfunction.Common structural features of cholesterol binding sites in crystallized soluble proteins.Rare diseases in clinical endocrinology: a taxonomic classification system.Genetics of Short Stature.Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.Genetically decreased vitamin D and risk of Alzheimer disease.Plasma sterols and depressive symptom severity in a population-based cohort.Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.Proteostatic Tactics in the Strategy of Sterol Regulation.MicroRNAs in brain cholesterol metabolism and their implications for Alzheimer's disease.Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.Effect of psychotropic drug treatment on sterol metabolism.Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.7-Dehydrocholesterol (7-DHC), But Not Cholesterol, Causes Suppression of Canonical TGF-β Signaling and Is Likely Involved in the Development of Atherosclerotic Cardiovascular Disease (ASCVD).Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.Normal IQ is possible in Smith-Lemli-Opitz syndrome.Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic InterventionSmith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report
P2860
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P2860
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
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article científic
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article scientifique
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articol științific
@ro
articolo scientifico
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artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
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type
label
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
@en
prefLabel
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
@en
P2860
P356
P1476
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
@en
P2093
Małgorzata J M Nowaczyk
Mira B Irons
P2860
P304
P356
10.1002/AJMG.C.31343
P577
2012-10-11T00:00:00Z