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Article

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples

14 Jan 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20075206
DOI: 10.2353/jmoldx.2010.090099

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Related research

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Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot SamplesPMID 20075206Read ↗

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined ImmunodeficiencySemantic proximity Read ↗

Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCRSemantic proximity Read ↗

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Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screeningSemantic proximity Read ↗

Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosisSemantic proximity Read ↗

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.Semantic proximity Read ↗

Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA MaterialSemantic proximity Read ↗

DNA methylome profiling using neonatal dried blood spot samples: a proof-of-principle study.Semantic proximity Read ↗

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.Semantic proximity Read ↗

Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assaySemantic proximity Read ↗

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)Semantic proximity Read ↗

Utilization of archived neonatal dried blood spots for genome-wide genotyping.Semantic proximity Read ↗

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