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Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic reviewPolymorphisms of CYP51A1 from cholesterol synthesis: associations with birth weight and maternal lipid levels and impact on CYP51 protein structure.Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.Cholesterol in brain disease: sometimes determinant and frequently implicated.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz SyndromeInhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D SynthesisProbes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor.Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.Normal IQ is possible in Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report
P2860
Q28078252-831F3DAA-5919-4B39-AE54-1ED1BED00B32Q30357090-CCFC363F-63A0-441E-BEFD-3692413FE655Q34476325-095C4FF2-F0BE-4B0E-84B7-9F013EE4415EQ34509034-C2BDD188-21A3-4D96-B1E2-8EBE27C08FB6Q34621446-EF3781C9-E4FF-41D3-9867-C0F8B522017DQ35129290-E1885B3B-2652-4408-A2BB-3C80457BE334Q35954768-AE2AA64D-0CAB-4284-902E-E5D5D6E4EA50Q35994919-61D1E644-5DAE-431C-939E-5B0B62F2002CQ36884578-B7255885-39C9-4003-A44F-B79151AF08AEQ37676945-E0864883-2DD8-41CB-ADD6-149661CBF582Q38976177-11A3C3D3-ADCF-4669-80EA-A325E464D596Q42278762-AC515D8B-4C17-4AFC-BEA0-A54AF6047A92Q47233176-75EE0118-1FB8-4C24-8610-C6835971F02BQ47829953-F3C74394-52BF-420B-B1B7-B7F797E65008Q48087094-F3F18E46-CFCB-4E6F-B577-ACA8BB760862Q48335254-BBCB5F85-B420-4197-B42C-406D780D4E53Q49209763-450C19B2-9954-49F5-B281-D45FCC921CF3Q50059313-096E1B56-DCCA-4118-8414-E88BC82B0967Q55322170-88C95640-FF51-4D8B-9FC1-A56E1A5FBD60Q58791654-ED7836E8-7916-494F-9395-813351374E82
P2860
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Mutational spectrum of Smith-Lemli-Opitz syndrome.
@en
type
label
Mutational spectrum of Smith-Lemli-Opitz syndrome.
@en
prefLabel
Mutational spectrum of Smith-Lemli-Opitz syndrome.
@en
P2860
P356
P1476
Mutational spectrum of Smith-Lemli-Opitz syndrome.
@en
P2093
Hans R Waterham
Raoul C M Hennekam
P2860
P304
P356
10.1002/AJMG.C.31346
P577
2012-10-05T00:00:00Z