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Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndromeLathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiencyThe LIM homeobox gene Lhx9 is essential for mouse gonad formationHearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.An Efficient Approach to Evaluate Reporter Ion Behavior from MALDI-MS/MS Data for Quantification Studies Using Isobaric TagsQuantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiencySmith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transferGenetic disorders of cholesterol biosynthesis in mice and humans.Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 diseaseHigh incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data setsPituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and miceMicroarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndromeEfficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth.Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.Relative acidic compartment volume as a lysosomal storage disorder-associated biomarkerA placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvatureModeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compoundsRecognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriolDHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patientsEvaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1
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description
researcher, ORCID id # 0000-0002-2524-1420
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wetenschapper
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name
Christopher A Wassif
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Christopher A Wassif
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Christopher A Wassif
@es
Christopher A Wassif
@nl
type
label
Christopher A Wassif
@ast
Christopher A Wassif
@en
Christopher A Wassif
@es
Christopher A Wassif
@nl
prefLabel
Christopher A Wassif
@ast
Christopher A Wassif
@en
Christopher A Wassif
@es
Christopher A Wassif
@nl
P106
P1153
6602513551
P21
P31
P496
0000-0002-2524-1420