Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

15 results
Display

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development

Park KB, Nam KE, Cho AR, Jang W, Kim M, Park JH

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Lynch Syndrome with the Deletion of Multiple Exons of the MLH1 Gene, Detected by Next-Generation Sequencing

Hong J, Kim H, Hong YS, Lee W, Lim SB, Byeon JS, Chun S, Min WK

A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspicious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Using low-coverage whole genome sequencing technique to analyze the chromosomal copy number alterations in the exfoliative cells of cervical cancer

Ren T, Suo J, Liu S, Wang S, Shu S, Xiang Y, Lang JH

OBJECTIVES: We analyzed the chromosomal-arm-level copy number alterations (CNAs) in the cervical exfoliative cell and tissue samples by using the low-coverage whole genomic sequencing technique. METHODS: In this study, we retrospectively...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Copy Number Profiling of MammaPrintâ„¢ Genes Reveals Association with the Prognosis of Breast Cancer Patients

Fatima A, Tariq F, Malik MF, Qasim M, Haq F

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population

Park TJ, Hwang MY, Moon S, Hwang JY, Go MJ, Kim BJ

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Copy Number Variation Burden on Asthma Subgenome in Normal Cohorts Identifies Susceptibility Markers

Vishweswaraiah S, Veerappa A, Mahesh PA, Jahromi SR, Ramachandra NB

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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

Koh KN, Lee JO, Seo EJ, Lee SW, Suh JK, Im HJ, Seo JJ

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos

Yang JO, Hwang S, Kim WY, Park SJ, Kim SC, Park K, Lee B, The HUGO Pan-Asian SNP Consortium

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genome Architecture and Its Roles in Human Copy Number Variation

Chen L, Zhou W, Zhang L, Zhang F

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data

Kim SY, Kim JH, Chung YJ

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on F-statistics

Song HH, Hu HJ, Seok IH, Chung YJ

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Difference of Genome-Wide Copy Number Alterations between High-Grade Squamous Intraepithelial Lesions and Squamous Cell Carcinomas of the Uterine Cervix

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Prognostic significance of syndecan-1 expression in cervical cancers

Kim YI, Lee A, Lee BH, Kim SY

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Copy Number Alterations of BCAS1 in Squamous Cell Carcinomas

Kim YI, Lee A, Kim J, Lee BH, Lee SH, Nam SW, Lee SH, Park WS, Yoo NJ, Lee JY, Kim SH, Kim SY

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Integrative epigenomic and genomic analysis of malignant pheochromocytoma

Sandgren J, Andersson , Rada-Iglesias A, Enroth S, Akerstrom , Dumanski J, Komorowski J, Westin G, Wadelius C

Epigenomic and genomic changes affect gene expression and contribute to tumor development. The histone modifications trimethylated histone H3 lysine 4 (H3K4me3) and lysine 27 (H3K27me3) are epigenetic regulators associated to...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr