Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.
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Advances in translational bioinformatics: computational approaches for the hunting of disease genesWhole-genome scanning by array comparative genomic hybridization as a clinical tool for risk assessment in chronic lymphocytic leukemiaClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesHuman genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Whole genome scanning: resolving clinical diagnosis and management amidst complex data.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.Identification of rare germline copy number variations over-represented in five human cancer types.Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomaliesGenetic epidemiology in aging research.MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among KoreansPathogenesis of autism: a patchwork of genetic causes.Progress in the detection of human genome structural variations.Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.Germline copy number variations and cancer predisposition.Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms.Fetal Dysmorphology-Still an Essential Art. Analysis of the Limitations of Microarray in a Fetal Population and a Look Toward the Genome Sequencing Era.The use of array-CGH in a cohort of Greek children with developmental delay.CNVannotator: a comprehensive annotation server for copy number variation in the human genome.Performance comparison of Affymetrix SNP6.0 and cytogenetic 2.7M whole-genome microarrays in complex cancer samples.Does copy number variation of APOL1 gene affect the susceptibility to focal segmental glomerulosclerosis?CNVD: text mining-based copy number variation in disease database.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
P2860
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P2860
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Structural variation in the hu ...... ariants on clinical diagnosis.
@ast
Structural variation in the hu ...... ariants on clinical diagnosis.
@en
Structural variation in the hu ...... ariants on clinical diagnosis.
@nl
type
label
Structural variation in the hu ...... ariants on clinical diagnosis.
@ast
Structural variation in the hu ...... ariants on clinical diagnosis.
@en
Structural variation in the hu ...... ariants on clinical diagnosis.
@nl
prefLabel
Structural variation in the hu ...... ariants on clinical diagnosis.
@ast
Structural variation in the hu ...... ariants on clinical diagnosis.
@en
Structural variation in the hu ...... ariants on clinical diagnosis.
@nl
P2093
P2860
P1433
P1476
Structural variation in the hu ...... variants on clinical diagnosis
@en
P2093
Allen Lamb
Charles Lee
Laia Rodriguez-Revenga
P2860
P2888
P304
P356
10.1097/GIM.0B013E318149E1E3
P407
P577
2007-09-01T00:00:00Z
P6179
1051526863