Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
about
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesA novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delayRuler arrays reveal haploid genomic structural variation.Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspringMolecular cytogenetic analysis of telomere rearrangements.New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishArray-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs.Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Prenatal diagnosis by array-comparative genomic hybridization.Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability.F8 gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements.Use of array-based technology in the practice of medical genetics.Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.Deletion 2p15-16.1 syndrome: Case report and review
P2860
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P2860
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
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2007年學術文章
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2007年學術文章
@zh-hant
name
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@en
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@nl
type
label
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@en
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@nl
prefLabel
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@en
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@nl
P2093
P356
P1476
Whole-genome array-CGH identif ...... tion, and dysmorphic features.
@en
P2093
Alessandra Splendore
Athena M Cherry
Melanie A Manning
Swaroop Aradhya
P304
P356
10.1002/AJMG.A.31773
P407
P577
2007-07-01T00:00:00Z