The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
about
Massively parallel sequencing: the next big thing in genetic medicineClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsDECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersClinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal casesConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDetection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Molecular cytogenetics and cytogenomics of brain diseases.Application of a target array comparative genomic hybridization to prenatal diagnosis.DIA1R is an X-linked gene related to Deleted In Autism-1.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testingDiscovery of variants unmasked by hemizygous deletions.Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization.Detection limit of intragenic deletions with targeted array comparative genomic hybridization.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHSimple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.The phenotype of recurrent 10q22q23 deletions and duplications.Disorders caused by chromosome abnormalities.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease."Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromesDesign, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridizationMultiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertilityChromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesNovel microdeletion syndromes detected by chromosome microarrays.Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center studyArray CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.Double eye brow: a rare case report."Idiopathic" mental retardation and new chromosomal abnormalities.Copy-number changes in prenatal diagnosis.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.From karyotyping to array-CGH in prenatal diagnosis.
P2860
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P2860
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
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
The identification of microdel ...... w technologies for the future.
@en
type
label
The identification of microdel ...... w technologies for the future.
@en
prefLabel
The identification of microdel ...... w technologies for the future.
@en
P2093
P356
P1476
The identification of microdel ...... w technologies for the future.
@en
P2093
Bassem A Bejjani
Beth Torchia
Blake C Ballif
Justine Coppinger
Lisa G Shaffer
Susan Kirkpatrick
P304
P356
10.1002/AJMG.C.30152
P577
2007-11-01T00:00:00Z