- Nail DNA and Possible Biomarkers: A Pilot Study
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Park J, Liang D, Kim JW, Luo Y, Huang T, Kim SY, Chang SS
- KMID: 1383787
- J Prev Med Public Health.
- 2012 Jul;45(4):235-243.
- doi: 10.3961/jpmph.2012.45.4.235
OBJECTIVES: Nail has been a substitute DNA source for genotyping. To investigate the integrity and consistency of nail DNA amplification for biomarker study, nail clippings from 12 subjects were collected... -
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- Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
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Yoo HW, Astrin KH, Desnick RJ
- KMID: 1421957
- J Korean Med Sci.
- 1993 Feb;8(1):84-91.
- doi: 10.3346/jkms.1993.8.1.84
Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency... -
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- Gyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-delta-aminotransferase Gene Analysis: A Case Report
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Kim SJ, Lim DH, Kim JH, Kang SW
- KMID: 1707296
- Korean J Ophthalmol.
- 2013 Oct;27(5):388-391.
- doi: 10.3341/kjo.2013.27.5.388
A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral... -
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- Flow cytometric evaluation on the age-dependent changes of testicular DNA contents in rats
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Yoon CY, Hong CM, Cho YY, Song JY, Hong IJ, Cho DH, Lee BJ, Song HJ, Kim CK
- KMID: 1103505
- J Vet Sci.
- 2001 Apr;2(1):43-46.
An age-dependent cellular change of DNA contents in the testis of Sprague-Dawley rats was investigated by flow-cytometric method. Testicular cell suspensions at the age of 4, 5, 6, 7, 8,... -
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- Development of Indicators to Assess the Stability of Remnant Blood Samples Stored in a Biobank: Experience at One Institution
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Kim SH, Kang YE, Hong YJ, Chang YH, Hong SI, Oh AC, Lee JK
- KMID: 1781681
- Korean J Lab Med.
- 2010 Dec;30(6):718-725.
- doi: 10.3343/kjlm.2010.30.6.718
BACKGROUND: One of the major concerns with biobanking is the absence of standard operating procedures to eliminate pre-analytical variation arising from sample collection, preparation, and storage. Currently, there is a... -
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- Clinical Significance of Previously Cryptic Copy Number Alterations and Loss of Heterozygosity in Pediatric Acute Myeloid Leukemia and Myelodysplastic Syndrome Determined Using Combined Array Comparative Genomic Hybridization plus Single-Nucleotide Polymorphism Microarray Analyses
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Koh KN, Lee JO, Seo EJ, Lee SW, Suh JK, Im HJ, Seo JJ
- KMID: 1789951
- J Korean Med Sci.
- 2014 Jul;29(7):926-933.
- doi: 10.3346/jkms.2014.29.7.926
The combined array comparative genomic hybridization plus single-nucleotide polymorphism microarray (CGH+SNP microarray) platform can simultaneously detect copy number alterations (CNA) and copy-neutral loss of heterozygosity (LOH). Eighteen children with acute... -
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