about
Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.Genomic medicine and risk prediction across the disease spectrum.Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient.Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance.Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.Improved heteroduplex detection of single-base substitutions in PCR-amplified DNA.Association of the BDNF Val66Met variation with obesity in women.Association study and mutation analysis of adiponectin shows association of variants in APM1 with complex obesity in women.Analysis of genetic variations in the resistin gene shows no associations with obesity in women.Identification of Three Novel Genetic Variants in the Melanocortin-3 Receptor of Obese ChildrenIdentification and Functional Characterization of Novel Mutations in the Melanocortin-4 ReceptorThe G1422A variant of the cannabinoid receptor gene (CNR1) is associated with abdominal adiposity in obese menIdentification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencingMutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor geneA rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor geneDetection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysisMutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemicsConcentrations of the atherogenic Lp(a) are elevated in FHMutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia
P50
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P50
description
researcher
@en
wetenschapper
@nl
name
A V Peeters
@en
A V Peeters
@nl
type
label
A V Peeters
@en
A V Peeters
@nl
prefLabel
A V Peeters
@en
A V Peeters
@nl
P106
P31
P496
0000-0002-7155-8226