- MLPA Applications in Genetic Testing
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Kim GH, Lee BH, Yoo HW
- KMID: 1473818
- J Genet Med.
- 2009 Dec;6(2):146-154.
Multiplex ligation dependent probe amplification (MLPA) is a PCR-based method to detect gene dosage. Since its introduction, MLPA has been used to test a large number of genes for major... -
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- Diagnosis of x-linked ichthyosis and detection of its carriers with southern blot hybidization
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Han HS, Kim KH, Suhr KB, Lee JH, Park JK
- KMID: 2230869
- Korean J Dermatol.
- 1993 Dec;31(6):857-865.
BACKGROUND: The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND... -
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- Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
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Cali F, Ragalmuto , Chiavetta , Calabrese , Fichera M, Vinci M, Ruggeri G, Schinocca , Sturnio M, Romano S, Romano V, Elia M
- KMID: 1115268
- Exp Mol Med.
- 2010 Dec;42(12):842-848.
- doi: 10.3858/emm.2010.42.12.087
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to... -
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- Array-based Comparative Genomic Hybridization and Its Application to Cancer Genomes and Human Genetics
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Cho EK
- KMID: 2005738
- J Lung Cancer.
- 2011 Dec;10(2):77-86.
- doi: 10.6058/jlc.2011.10.2.77
Microarray comparative genomic hybridization (CGH) has proven to be a specific, sensitive, and rapid technique, with considerable advantages compared to other methods used for analysis of DNA copy number changes.... -
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- Homozygous Deletion of p16INK4 and p15INK4B Genes in Human Advanced Ovarian Carcinoma
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Lee CM, Kang SB
- KMID: 2261895
- Korean J Obstet Gynecol.
- 2000 Apr;43(4):649-658.
OBJECTIVE: p16INK4 and p15INK4B genes are known to be tumor suppressor genes which reside in p21 region of chromosome 9 and are related to cell cycle control as an inhibitor of... -
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- Epigenetic Study of XIST Gene from Female and Male Cells by Pyrosequencing
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Kim HH, Yun YJ, Song MA, Lee S
- KMID: 2288236
- Korean J Reprod Med.
- 2010 Mar;37(1):25-31.
OBJECTIVE: X inactivation is the silencing one of the two X chromosomes in female mammals for gene dosage on the X-chromosome between female and male. X inactivation is controlled by... -
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- Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease
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Ahn JK, Cha HS, Lee J, Jeon CH, Koh EM
- KMID: 1792990
- J Korean Med Sci.
- 2012 Jan;27(1):107-109.
- doi: 10.3346/jkms.2012.27.1.107
Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding alpha-defensin-1 in samples from Korean individuals with Behcet's disease... -
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- A Family Harboring CMT1A Duplication and HNPP Deletion
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Lee JH, Kang HJ, Song H, Hwang SJ, Cho SY, Kim SB, Kim J, Chung KW, Choi BO
- KMID: 1851021
- J Clin Neurol.
- 2007 Jun;3(2):101-104.
- doi: 10.3988/jcn.2007.3.2.101
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of... -
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- Copy Number Alterations of BCAS1 in Squamous Cell Carcinomas
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Kim YI, Lee A, Kim J, Lee BH, Lee SH, Nam SW, Lee SH, Park WS, Yoo NJ, Lee JY, Kim SH, Kim SY
- KMID: 1443732
- Korean J Pathol.
- 2011 Jun;45(3):271-275.
- doi: 10.4132/KoreanJPathol.2011.45.3.271
BACKGROUND: Breast carcinoma amplified sequence 1 (BCAS1), located in 20q13, is amplified and overexpressed in breast cancers. Even though BCAS1 is expected to be an oncogene candidate, its contribution to... -
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- Correlation between Genotype and Phenotype in Korean patients with Spinal Muscular Atrophy
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Won SY, Ryu KH, Lee EH, Hahn SH, Pai KS, Kim SH
- KMID: 2007242
- J Korean Child Neurol Soc.
- 1999 Oct;7(1):10-20.
BACKGROUND: Spinal muscular atrophy (SMA) is the second most common disease with autosomal recessive mode of inheritance in children and characterized by degeneration of anterior horn cells of the spinal... -
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- Gene Expression Analysis of Cultured Amniotic Fluid Cell with Down Syndrome by DNA Microarray
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Chung IH, Lee SH, Lee KW, Park SH, Cha KY, Kim NS, Yoo HS, Kim YS, Lee S
- KMID: 1781731
- J Korean Med Sci.
- 2005 Feb;20(1):82-87.
- doi: 10.3346/jkms.2005.20.1.82
Complete or partial triplication of human chromosome 21 results in Down syndrome (DS). To analyze differential gene expressions in amniotic fluid (AF) cells of DS, we used a DNA microarray... -
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- Clinical Significance of MET Gene Copy Number in Patients with Curatively Resected Gastric Cancer
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Kang BW, Kim JG, Park H, Park BE, Jeon SW, Bae HI, Kwon OK, Chung HY, Yu W
- KMID: 2172135
- Chonnam Med J.
- 2015 Aug;51(2):81-85.
- doi: 10.4068/cmj.2015.51.2.81
The present study analyzed the prognostic impact of MET gene copy number in patients with curatively resected gastric cancer who received a combination regimen of cisplatin and S-1. The MET... -
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- PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
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Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC
- KMID: 1785757
- J Korean Med Sci.
- 2007 Dec;22(6):981-986.
- doi: 10.3346/jkms.2007.22.6.981
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five... -
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- Analysis of TCR Vfi Gene Repertoire in Patients with Rheumatoid Arthritis
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Jung SS, Hong KP, Kim DY, Kim TH, Lee IH, Jun JB, Bae SC, Yoo DH, Kim SY, Lee EY, Chang SY, Chai YG
- KMID: 2025506
- J Korean Rheum Assoc.
- 1996 Jan;3(1):11-31.
OBJECTIVES: Polymerase chain reaction (PCR) technology was eamine synovial fluid and peripheral T cells in patients with rheumatoid arthritis(RA) to determine the preferential usage of the T cell receptor(TCR) variable... -
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- Integrated analysis of copy number alteration and RNA expression profiles of cancer using a high-resolution whole-genome oligonucleotide array
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Jung SH, Shin SH, Yim SH, Choi HS, Lee SH, Chung YJ
- KMID: 1058020
- Exp Mol Med.
- 2009 Jul;41(7):462-470.
- doi: 10.3858/emm.2009.41.7.051
Recently, microarray-based comparative genomic hybridization (array-CGH) has emerged as a very efficient technology with higher resolution for the genome-wide identification of copy number alterations (CNA). Although CNAs are thought to... -
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- Large-scale Genotyping and Genetic Mapping in Plasmodium Parasites
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Su XZ, Jiang H, Yi M, Mu J, Stephens R
- KMID: 1720616
- Korean J Parasitol.
- 2009 Jun;47(2):83-91.
- doi: 10.3347/kjp.2009.47.2.83
The completion of many malaria parasite genomes provides great opportunities for genomewide characterization of gene expression and high-throughput genotyping. Substantial progress in malaria genomics and genotyping has been made recently,... -
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- The EGFR Protein Expression and the Gene Copy Number Changes in Renal Cell Carcinomas
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Lee S, An J, Kim A, Kim YS, Kim I, Genitourinary Pathology Study Group
- KMID: 1472619
- Korean J Pathol.
- 2009 Oct;43(5):413-419.
- doi: 10.4132/KoreanJPathol.2009.43.5.413
BACKGROUND: The epidermal growth factor receptor (EGFR) is known to be involved in many tumor promoting activities. EGFR inhibition has been tried as a therapeutic modality in many human malignancies. METHODS:... -
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- Assessment of the Specificity of A Hybridization of Surfactant Protein A by Addition of Non-specific Rat Spleen RNA
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Kim BC, Kim MO, Kim TH, Sohn JW, Yoon HJ, Shin DH, Park SS
- KMID: 2318478
- Tuberc Respir Dis.
- 2004 Apr;56(4):393-404.
BACKGROUND: Nucleic acid hybridization has become an essential technique in the development of our understanding of gene structure and function. The quantitative analysis of hybridization has been used in the... -
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- Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
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Lee BY, Lee SY, Lee YW, Kim SY, Kim JW, Ryu HM, Lee JS, Park SY, Seo JT
- KMID: 2369024
- J Genet Med.
- 2016 Dec;13(2):78-88.
- doi: 10.5734/JGM.2016.13.2.78
PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex... -
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- Clinicopathologic Implications of ALK Gene Copy Number Gain in Non-small Cell Lung Cancer
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Yoo SB, Kim H, Xu X, Sun PL, Jin Y, Paik JH, Jheon S, Lee CT, Chung JH
- KMID: 2005739
- J Lung Cancer.
- 2011 Dec;10(2):87-93.
- doi: 10.6058/jlc.2011.10.2.87
PURPOSE: The anaplastic lymphoma kinase (ALK) gene is a potential molecular target in non-small cell lung carcinoma (NSCLC). The clinicopathologic implication of a change in the ALK gene copy number... -
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