- A Modified Extraction Method of Circulating Free DNA for Epidermal Growth Factor Receptor Mutation Analysis
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Yuan H, Zhu ZZ, Lu Y, Liu F, Zhang W, Huang G, Zhu G, Jiang B
- KMID: 1779697
- Yonsei Med J.
- 2012 Jan;53(1):132-137.
- doi: 10.3349/ymj.2012.53.1.132
PURPOSE: Circulating free DNA (cfDNA) in plasma is promising to be a surrogate for tumor tissue DNA. However, not all epidermal growth factor receptor (EGFR) mutations in tumor tissue DNA... -
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- Evaluation of the Anyplex BRAF V600E Real-Time Detection Assay Using Dual-Priming Oligonucleotide Technology in Fine-Needle Aspirates of Thyroid Nodules
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Choi R, Park KS, Kim JW, Ki CS
- KMID: 2363266
- Ann Lab Med.
- 2015 Nov;35(6):624-629.
- doi: 10.3343/alm.2015.35.6.624
BACKGROUND: Several molecular assays have been developed to detect the BRAF V600E mutation in fine needle aspirates (FNAs) for the diagnosis of papillary thyroid cancer. Using a multiplex PCR technique,... -
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- Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
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Cho HJ, Ki CS, Kim JW
- KMID: 1794410
- J Korean Med Sci.
- 2009 Feb;24(1):77-83.
- doi: 10.3346/jkms.2009.24.1.77
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and... -
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- Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
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Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW
- KMID: 2419120
- Yonsei Med J.
- 2017 May;58(3):613-618.
- doi: 10.3349/ymj.2017.58.3.613
PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries.... -
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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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- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
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Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca , Ragalmuto , Chiavetta , Micciche S, Romano V
- KMID: 983980
- Exp Mol Med.
- 2010 Feb;42(2):81-86.
- doi: 10.3858/emm.2010.42.2.009
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning... -
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