Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
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Introduction: Williams syndromeGenetic disorders coupled to ROS deficiencyReduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren SyndromeUsing transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeAt the bottom of the differential diagnosis list: unusual causes of pediatric hypertensionVisual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disordersInduced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.A copy number variation in human NCF1 and its pseudogenesThe Williams-Beuren Syndrome-a window into genetic variants leading to the development of cardiovascular disease.Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.Functional pseudogenes inhibit the superoxide production.High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndromeCopy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Inverted low-copy repeats and genome instability--a genome-wide analysisMechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi ArabiaFunctional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1Phenotypic variability and genetic susceptibility to genomic disordersGene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect.Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity.Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model.Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor RetardationSpectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome
P2860
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P2860
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
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2006 nî lūn-bûn
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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2006 թվականի հունվարին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@ast
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@en
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@nl
type
label
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@ast
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@en
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@nl
prefLabel
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@ast
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@en
Hemizygosity at the NCF1 gene ...... es their risk of hypertension.
@nl
P2093
P2860
P356
P1476
Hemizygosity at the NCF1 gene ...... ses their risk of hypertension
@en
P2093
Francisco J Muñoz
Luis A Pérez Jurado
Luis F Magano
Miguel Del Campo
Mònica Bayés
Raquel Flores
P2860
P304
P356
10.1086/501073
P407
P577
2006-01-31T00:00:00Z