A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
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Molecular cloning and expression of the human delta7-sterol reductaseMutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneMutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndromeMarkedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotesPalatal development of preterm and low birthweight infants compared to term infants -- What do we know? Part 3: discussion and conclusionSterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patientsDysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseasesInvestigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic reviewHomozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosisThe Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphologyDHCR7 genotypes of cousins with Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeAutism: the role of cholesterol in treatment7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndromeCholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related proteinThe Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human FibroblastsComparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndromeNeuroimaging of lipid storage disorders.Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome.Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis.Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.Mutations in the human DHCR7 gene.Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sisterUnknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosisCharacterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome.Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic featuresBiochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.The Smith-Lemli-Opitz syndrome.Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndromeDecreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.The ins and outs of cholesterol in the vertebrate retina.
P2860
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P2860
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
description
1964 nî lūn-bûn
@nan
1964 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1964 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1964年の論文
@ja
1964年論文
@yue
1964年論文
@zh-hant
1964年論文
@zh-hk
1964年論文
@zh-mo
1964年論文
@zh-tw
1964年论文
@wuu
name
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@ast
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@en
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@nl
type
label
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@ast
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@en
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@nl
prefLabel
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@ast
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@en
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@nl
P2093
P1476
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
@en
P2093
P304
P356
10.1016/S0022-3476(64)80264-X
P407
P577
1964-02-01T00:00:00Z