Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
about
Human genetics and genomics a decade after the release of the draft sequence of the human genomeVariation in genome-wide mutation rates within and between human familiesDifferent Facets of Copy Number Changes: Permanent, Transient, and AdaptiveClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsThe clustering of functionally related genes contributes to CNV-mediated diseaseOrigins and functional impact of copy number variation in the human genomeComprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesPrenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis: A case report and review of the literature.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probesExperimental design and data analysis for array comparative genomic hybridization.Whole genome scanning: resolving clinical diagnosis and management amidst complex data.Forging links between human mental retardation-associated CNVs and mouse gene knockout models.Accurate distinction of pathogenic from benign CNVs in mental retardation.Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpressionDeletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?Characterising and predicting haploinsufficiency in the human genome.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortIntegrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndromeVisualization of fine-scale genomic structure by oligonucleotide-based high-resolution FISH.Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.The functional impact of structural variation in humans.Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.The future of prenatal cytogenetic diagnostics: a personal perspective.Benign copy number changes in clinical cytogenetic diagnostics by array CGHInterpretation of array comparative genome hybridization data: a major challenge.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Large multiallelic copy number variations in humansOn the spot: very local chromosomal rearrangements.Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencingGenomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expressionGenome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients.Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
P2860
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P2860
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
description
2007 nî lūn-bûn
@nan
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
2007年论文
@zh
2007年论文
@zh-cn
name
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
@en
type
label
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
@en
prefLabel
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
@en
P2093
P356
P1433
P1476
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
@en
P2093
A John Iafrate
Arthur R Brothman
Charles Lee
P2888
P304
P356
10.1038/NG2092
P407
P433
P577
2007-07-01T00:00:00Z