Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases
about
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundMicroarray comparative genomic hybridization in prenatal diagnosis: a reviewPrevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesThe clinical impact of chromosomal microarray on paediatric care in Hong Kong.Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case reportSevere intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.Prenatal testing for intellectual disability: misperceptions and reality with lessons from Down syndrome.A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterizationMicroarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.Comprehensive chromosome analysis of blastocysts before implantation using array CGH.Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesArray-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center studyMulticolor banding remains an important adjunct to array CGH and conventional karyotyping.A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics.Next-generation sequencing: ready for the clinics?Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.Personalized medicine: caught between hope, hype and the real worldUse of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature.Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients."Classical cytogenetics" is not equal to "banding cytogenetics".The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns.Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.Referral patterns for microarray testing in prenatal diagnosis.Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis.Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience.Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis.A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing.Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.High-resolution microarray in the assessment of fetal anomalies detected by ultrasound
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Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Clinical implementation of who ...... n 5080 pre and postnatal cases
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Clinical implementation of who ...... n 5080 pre and postnatal cases
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Clinical implementation of who ...... n 5080 pre and postnatal cases
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type
label
Clinical implementation of who ...... n 5080 pre and postnatal cases
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Clinical implementation of who ...... n 5080 pre and postnatal cases
@en
Clinical implementation of who ...... n 5080 pre and postnatal cases
@nl
prefLabel
Clinical implementation of who ...... n 5080 pre and postnatal cases
@ast
Clinical implementation of who ...... n 5080 pre and postnatal cases
@en
Clinical implementation of who ...... n 5080 pre and postnatal cases
@nl
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Clinical implementation of who ...... n 5080 pre and postnatal cases
@en
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Eun Hye Jung
Ho-Young Kang
Hyon J Kim
Hyun Woong Kang
Jung-Min Ko
Ran-Suk Ryu
Sang-Jin Park
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P2888
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10.1186/1755-8166-4-12
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P577
2011-05-09T00:00:00Z
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P6179
1047789798