Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome

被引：12

作者：

Aksglaede, L. ^{[1
]}

Garn, I. D. ^{[1
]}

Hollegaard, M. V. ^{[2
]}

Hougaard, D. M. ^{[2
]}

Meyts, E. Rajpert-De ^{[1
]}

Juul, A. ^{[1
]}

机构：

[1] Univ Copenhagen, Rigshosp, Fac Hlth Sci, Dept Growth & Reprod, DK-2100 Copenhagen, Denmark

[2] Statens Serum Inst, Sect Neonatal Screening & Hormones, DK-2300 Copenhagen, Denmark

来源：

ACTA PAEDIATRICA | 2012年 / 101卷 / 12期

关键词：

PREVALENCE; MORTALITY;

D O I：

10.1111/apa.12008

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：e561 / e563

页数：3

共 43 条

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JOURNAL OF ENVIRONMENTAL PATHOLOGY TOXICOLOGY AND ONCOLOGY, 2009, 28 (02) : 89 - 98
[22] Genotyping whole-genome-amplified DNA from 3-to 25-year-old neonatal dried blood spot samples with reference to fresh genomic DNA
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[23] Diagnostic accuracy of detection and quantification of HBV-DNA and HCV-RNA using dried blood spot (DBS) samples - a systematic review and meta-analysis
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[24] Diagnostic accuracy of detection and quantification of HBV-DNA and HCV-RNA using dried blood spot (DBS) samples – a systematic review and meta-analysis
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BMC Infectious Diseases, 17
[25] Gene Copy Number Analysis by MLPA on FFPE-derived DNA Samples Benefits from Selecting Most Optimal Tissue Fixation and Subsequent DNA Extraction Methods
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[26] Expansion of oncomine cell-free research panels to enable copy number and gene fusion detection from liquid biopsy samples.
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JOURNAL OF CLINICAL ONCOLOGY, 2018, 36 (15)
[27] High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis
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[28] Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples
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[29] A LAMP-SNP Assay Detecting C580Y Mutation in Pfkelch13 Gene from Clinically Dried Blood Spot Samples
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KOREAN JOURNAL OF PARASITOLOGY, 2021, 59 (01): : 15 - 22
[30] Development of a Clinical Next-Generation Sequencing Assay for Lysosomal Storage Disorders Mutation Screening: Utilization of Low Quantity DNA from Dried Blood Spot
Majumdar, R.
McDonald, A.
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Fadra, N.
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Rinaldo, P.
Matem, D.
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JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (06): : 704 - 704

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