Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases - Wikidata - awgldk - TriplyDB

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

http://www.wikidata.org/entity/Q28236948

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound Microarray comparative genomic hybridization in prenatal diagnosis: a review Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies The 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 report Severe 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 characterization Microarray 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 abnormalities Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study Multicolor 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 world Use 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

http://www.wikidata.org/entity/Q28236948

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Molecular Cytogenetics

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Eun Hye Jung

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Ho-Young Kang

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Hyon J Kim

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Hyun Woong Kang

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Jung-Min Ko

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Ran-Suk Ryu

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Sang-Jin Park

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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

A highly annotated whole-genome sequence of a Korean individual.

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.

The array CGH and its clinical applications.

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies.

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.

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1455997

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10.1186/1755-8166-4-12

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1

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Sang-Hyun Hwang

Chong Kun Cheon

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2011-05-09T00:00:00Z

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51104456

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1047789798

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21549014

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