Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
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Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsSex bias in copy number variation of olfactory receptor gene family depends on ethnicityCopy number variation of age-related macular degeneration relevant genes in the Korean populationThe gene balance hypothesis: implications for gene regulation, quantitative traits and evolutionDetection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.Variation in human β-defensin genes: new insights from a multi-population studyA statistical approach to detection of copy number variations in PCR-enriched targeted sequencing dataThe human genome puzzle - the role of copy number variation in somatic mosaicismGenomic landscape of a three-generation pedigree segregating affective disorder.Accounting for uncertainty when assessing association between copy number and disease: a latent class modelA copy number variation in human NCF1 and its pseudogenesEarly embryonic chromosome instability results in stable mosaic pattern in human tissuesCNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays.A classification model for distinguishing copy number variants from cancer-related alterations.Tandem duplications lead to novel expression patterns through exon shuffling in Drosophila yakubaLandscape of standing variation for tandem duplications in Drosophila yakuba and Drosophila simulans.The effect of translocation-induced nuclear reorganization on gene expression.Ohnologs in the human genome are dosage balanced and frequently associated with disease.Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disordersGenome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.Unraveling the genetic basis of asthma and allergic diseasesThe association between DNA copy number aberrations at chromosome 5q22 and gastric cancerA genome-wide detection of copy number variations using SNP genotyping arrays in swine.Copy number variation modifies expression time coursesNovel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.Detection of copy number variants reveals association of cilia genes with neural tube defects.Copy number variation genotyping using family information.Amplification ratio control system for copy number variation genotyping.Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus.Copy number variation in the complement factor H-related genes and age-related macular degenerationCopy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.Copy number variation-based genome wide association study reveals additional variants contributing to meat quality in Swine.Molecular genetic studies of gene identification for osteoporosis: the 2009 updateComparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation.Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.MicroRNA-650 in a copy number-variable region regulates the production of interleukin 6 in human osteosarcoma cells.Genetic testing: predictive value of genotyping for diagnosis and management of disease.Gene balance hypothesis: connecting issues of dosage sensitivity across biological disciplines.Genome-wide identification of copy number variations in Chinese Holstein.
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P2860
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 October 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
@en
Genetic association analysis of copy-number variation
@nl
type
label
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
@en
Genetic association analysis of copy-number variation
@nl
prefLabel
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
@en
Genetic association analysis of copy-number variation
@nl
P2093
P2860
P1433
P1476
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
@en
P2093
Benjamin A Raby
Charles Lee
Christoph Lange
P2860
P356
10.1016/J.YGENO.2008.08.012
P577
2008-10-19T00:00:00Z