- Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene
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Park Y, Kim J, Choi JR, Song J, Chung JS, Lee KA
- KMID: 1781571
- Korean J Lab Med.
- 2008 Oct;28(5):386-391.
- doi: 10.3343/kjlm.2008.28.5.386
BACKGROUND: Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness... -
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- A Review of Power and Sample Size Estimation in Genomewide Association Studies
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Park AK, Kim H
- KMID: 1125672
- J Prev Med Public Health.
- 2007 Mar;40(2):114-121.
- doi: 10.3961/jpmph.2007.40.2.114
Power and sample size estimation is one of the crucially important steps in planning a genetic association study to achieve the ultimate goal, identifying candidate genes for disease susceptibility, by... -
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- Lack of Toll-like Receptor 4 and 2 Polymorphisms in Korean Patients with Bacteremia
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Yoon HJ, Choi JY, Kim CO, Park YS, Kim MS, Kim YK, Shin SY, Kim JM, Song YG
- KMID: 1713104
- J Korean Med Sci.
- 2006 Dec;21(6):979-982.
- doi: 10.3346/jkms.2006.21.6.979
Toll-like receptors (TLRs) are pattern-recognition receptors that are important in innate immune responses to bacterial infection. The purpose of this study is to describe the prevalence of TLRs genetic variations... -
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- Wilson Disease: an Update
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Seo JK
- KMID: 760667
- Korean J Hepatol.
- 2006 Sep;12(3):333-363.
Wilson disease (WD) is an autosomal recessive disorder of copper transport that results in accumulation of copper primarily in the liver, the brain and the cornea. WD is the most... -
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- Relationship Between the Extent of Chromosomal Losses and the Pattern of CpG Methylation in Gastric Carcinomas
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Hong SJ, Kim YH, Choi YD, Min KO, Choi SW, Rhyu MG
- KMID: 1781762
- J Korean Med Sci.
- 2005 Oct;20(5):790-805.
- doi: 10.3346/jkms.2005.20.5.790
The extent of unilateral chromosomal losses and the presence of microsatellite instability (MSI) have been classified into high-risk (high- and baseline-level loss) and low-risk (low-level loss and MSI) stem-line genotypes... -
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- Effectiveness of Real-Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies
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Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB
- KMID: 1734068
- Yonsei Med J.
- 2005 Jun;46(3):347-352.
- doi: 10.3349/ymj.2005.46.3.347
The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and of hereditary neuropathy with a liability to pressure palsies (HNPP) are the result of heterozygosity for the duplication or deletion... -
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- Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR
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Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, Kang S, Jung SC
- KMID: 1778571
- J Korean Med Sci.
- 2004 Dec;19(6):870-873.
- doi: 10.3346/jkms.2004.19.6.870
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only... -
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- Alpha-Adducin Gly460Trp Polymorphism and Essential Hypertension in Korea
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Shin MH, Chung EK, Kim HN, Park KS, Nam HS, Kweon SS, Choi JS
- KMID: 1778561
- J Korean Med Sci.
- 2004 Dec;19(6):812-814.
- doi: 10.3346/jkms.2004.19.6.812
Previous studies have suggested that the Gly460Trp polymorphism of the alpha-adducin gene (ADD-1) is associated with salt sensitivity and primary hypertension. The results of linkage or association studies of ADD-1... -
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- Hypermethylation of Tumor-related Genes in Genitourinary Cancer Cell Lines
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Chung WB, Hong SH, Kim JA, Sohn YK, Kim BW, Kim JW
- KMID: 648358
- J Korean Med Sci.
- 2001 Dec;16(6):756-761.
- doi: 10.3346/jkms.2001.16.6.756
Hypermethylation of CpG island is a common mechanism for the inactivation of tumor-related genes. In the present study, we analyzed 13 genitourinary cancer cell lines for aberrant DNA methylation of... -
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- Molecular screening for fragile x syndrome in mentally handicapped children in korea
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Kwon SH, Lee KS, Hyun MC, Song KE, Kim JK
- KMID: 1129896
- J Korean Med Sci.
- 2001 Jun;16(3):271-275.
- doi: 10.3346/jkms.2001.16.3.271
Fragile X syndrome is one of the most common forms of inherited mental retardation and is caused by the expansion of the CGG trinucleotide repeats in the FMR-1 gene. This... -
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- Triple marker screening for fetal chromosomal abnormalities in Korean women of advanced maternal age
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Kim SK, Bai SW, Chung JE, Jung YN, Park KH, Cho DJ, Kim JW, Yang YH, Song CH
- KMID: 720608
- Yonsei Med J.
- 2001 Apr;42(2):199-203.
- doi: 10.3349/ymj.2001.42.2.199
The purpose of this article is to assess the value of maternal serum triple marker screening of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3)... -
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- Detection of fetal erythroid cells from maternal blood using fluorescence in situ hybridization and liquid culture
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Han JY, Kim KH, Park JI, Kim IH, Je GH
- KMID: 648248
- J Korean Med Sci.
- 2001 Apr;16(2):145-149.
- doi: 10.3346/jkms.2001.16.2.145
Fetal nucleated erythrocytes circulating in maternal blood are a potential source of fetal DNA for noninvasive prenatal genetic diagnosis. However, the estimated ratio of fetal to maternal cells is extremely... -
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- HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population
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Lee JY, Yoo KH, Hahn SH
- KMID: 648120
- J Korean Med Sci.
- 2000 Apr;15(2):179-182.
- doi: 10.3346/jkms.2000.15.2.179
Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron... -
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