- Genome Architecture and Its Roles in Human Copy Number Variation
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Chen L, Zhou W, Zhang L, Zhang F
- KMID: 2391488
- Genomics Inform.
- 2014 Dec;12(4):136-144.
- doi: 10.5808/GI.2014.12.4.136
Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic... -
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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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- A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans
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Jeon JP, Shim SM, Jung J, Nam HY, Lee HJ, Oh B, Kimm K, Kim HL, Han BG
- KMID: 756205
- Exp Mol Med.
- 2009 Sep;41(9):618-628.
- doi: 10.3858/emm.2009.41.9.068
To examine copy number variations among the Korean population, we compared individual genomes with the Korean reference genome assembly using the publicly available Korean HapMap SNP 50 k chip data... -
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- Copy Number Variation Burden on Asthma Subgenome in Normal Cohorts Identifies Susceptibility Markers
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Vishweswaraiah S, Veerappa A, Mahesh PA, Jahromi SR, Ramachandra NB
- KMID: 2260464
- Allergy Asthma Immunol Res.
- 2015 May;7(3):265-275.
- doi: 10.4168/aair.2015.7.3.265
PURPOSE: Asthma is a complex disease caused by interplay of genes and environment on the genome of an individual. Copy number variations (CNVs) are more common compared to the other... -
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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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- Prognostic significance of syndecan-1 expression in cervical cancers
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Kim YI, Lee A, Lee BH, Kim SY
- KMID: 2055703
- J Gynecol Oncol.
- 2011 Sep;22(3):161-167.
- doi: 10.3802/jgo.2011.22.3.161
OBJECTIVE: Syndecans are reported to have variable expression in several solid tumors and blood cancers. The cause provoking altered expression of syndecans is not known to date. We studied copy... -
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- Effects of Carnitine on Peripheral Blood Mitochondrial DNA Copy Number and Liver Function in Non-Alcoholic Fatty Liver Disease
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Lim CY, Jun DW, Jang SS, Cho WK, Chae JD, Jun JH
- KMID: 948767
- Korean J Gastroenterol.
- 2010 Jun;55(6):384-389.
- doi: 10.4166/kjg.2010.55.6.384
BACKGROUND/AIMS: Functional and anatomical abnormalities of mitochondria play an important role in developing steatohepatitis. Carnitine is essential for enhanced mitochondrial beta oxidation through the transfer of long-chain fatty acids into... -
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- Copy Number Profiling of MammaPrintâ„¢ Genes Reveals Association with the Prognosis of Breast Cancer Patients
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Fatima A, Tariq F, Malik MF, Qasim M, Haq F
- KMID: 2438991
- J Breast Cancer.
- 2017 Sep;20(3):246-253.
- doi: 10.4048/jbc.2017.20.3.246
PURPOSE: The MammaPrintâ„¢ gene signature, currently used in clinical practice, provides prognostic information regarding the recurrence and potential metastasis in breast cancer patients. However, the prognostic information of the 70... -
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- Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos
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Yang JO, Hwang S, Kim WY, Park SJ, Kim SC, Park K, Lee B, The HUGO Pan-Asian SNP Consortium
- KMID: 1708247
- Genomics Inform.
- 2014 Mar;12(1):42-47.
- doi: 10.5808/GI.2014.12.1.42
Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically... -
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- Clinical implications of copy number variations in autoimmune disorders
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Yim SH, Jung SH, Chung B, Chung YJ
- KMID: 2160701
- Korean J Intern Med.
- 2015 May;30(3):294-304.
- doi: 10.3904/kjim.2015.30.3.294
Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence... -
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- Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population
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Park TJ, Hwang MY, Moon S, Hwang JY, Go MJ, Kim BJ
- KMID: 2366439
- Genomics Inform.
- 2016 Dec;14(4):216-221.
- doi: 10.5808/GI.2016.14.4.216
Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause... -
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- Amplification of the UQCRFS1 Gene in Gastric Cancers
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Jun KH, Kim SY, Yoon JH, Song JH, Park WS
- KMID: 2372422
- J Gastric Cancer.
- 2012 Jun;12(2):73-80.
PURPOSE: The specific aim of this study is to unravel a DNA copy number alterations, and to search for novel genes that are associated with the development of Korean gastric... -
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- Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
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Park KB, Nam KE, Cho AR, Jang W, Kim M, Park JH
- KMID: 2449004
- Ann Rehabil Med.
- 2019 Apr;43(2):215-223.
- doi: 10.5535/arm.2019.43.2.215
OBJECTIVE: To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development. METHODS: A retrospective chart review was done for 65 children who underwent... -
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- Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data
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Kim SY, Kim JH, Chung YJ
- KMID: 1806248
- Genomics Inform.
- 2012 Sep;10(3):194-199.
- doi: 10.5808/GI.2012.10.3.194
In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for... -
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- Comparative Gene Analyses between Benign Prostatic Hyperplasia and Cancer Using CGH
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Kim HJ, Kim SH, Kim SG, Kim BY
- KMID: 2030781
- Korean J Anat.
- 2005 Jun;38(3):235-242.
The present study was performed to find genetic changes in both cancer and hyperplastic cells in the prostate gland, elucidating any plausible interrelations of the changes between them. Nine cases... -
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- Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on F-statistics
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Song HH, Hu HJ, Seok IH, Chung YJ
- KMID: 2166489
- Genomics Inform.
- 2012 Jun;10(2):81-87.
- doi: 10.5808/GI.2012.10.2.81
Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far... -
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- Difference of Genome-Wide Copy Number Alterations between High-Grade Squamous Intraepithelial Lesions and Squamous Cell Carcinomas of the Uterine Cervix
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Lee BH, Roh S, Kim YI, Lee A, Kim SY
- KMID: 2011979
- Korean J Pathol.
- 2012 Apr;46(2):123-130.
BACKGROUND: About 10% of high-grade squamous intraepithelial lesions (HSILs) progress to invasive carcinomas within 2-10 years. By delineating the events that occur in the early stage of the invasion, the pathogenesis... -
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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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- PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
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Cho SM, Shin S, Lee KA
- KMID: 2373594
- Ann Lab Med.
- 2016 Nov;36(6):555-560.
- doi: 10.3343/alm.2016.36.6.555
BACKGROUND: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS: The study population consisted of 116 Korean subjects (65... -
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- Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
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Lee CG, Yun JN, Park SJ, Sohn YB
- KMID: 2055580
- J Genet Med.
- 2013 Jun;10(1):52-56.
- doi: 10.5734/JGM.2013.10.1.52
Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method... -
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