- Genetic Heterogeneity in 56 kDa gene of Orientia tsutsugamushi Genotype Karp
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Chang WH, Kee SH, Song HJ
- KMID: 2001263
- J Korean Soc Microbiol.
- 1997 Aug;32(4):415-420.
The type-specific PCR and the sequence analysis of 56 kDa gene of Orientia tsutsugamushi infected in field rodents specimens have shown intratypic genetic heterogeneity in genotype Karp. In sequence comparison,... -
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- Integrated diagnostic approach of pediatric neuromuscular disorders
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Lee HN, Lee YM
- KMID: 2435943
- J Genet Med.
- 2018 Dec;15(2):55-63.
- doi: 10.5734/JGM.2018.15.2.55
Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and... -
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- Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome
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Shin YL
- KMID: 2465642
- Korean J Pediatr.
- 2019 Nov;62(11):412-413.
- doi: 10.3345/kjp.2019.00220
No abstract available. -
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- New Insight to the Pathogenetic Mechanism of Kawasaki Disease (KD): the Relationship between Clinical Diversity and Genetic Heterogeneity
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Yoo BW
- KMID: 2430754
- Korean Circ J.
- 2019 Jan;49(1):109-112.
- doi: 10.4070/kcj.2018.0365
No abstract available. -
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- A case of fetal skelectal anomaly of Campomelic syndrome
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Kim SK, Kim HC, Shin SJ, Lee MW, Lee YM, Cho JH, Choi YJ, Kwon KW
- KMID: 2261848
- Korean J Obstet Gynecol.
- 2000 Feb;43(2):311-314.
Campomelic syndrome is a very rare skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise... -
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- Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
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Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH
- KMID: 2371347
- Ann Rehabil Med.
- 2016 Dec;40(6):1129-1134.
- doi: 10.5535/arm.2016.40.6.1129
Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional... -
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- Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics
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Park HY
- KMID: 2385380
- Korean Circ J.
- 2017 May;47(3):291-298.
- doi: 10.4070/kcj.2016.0017
Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in... -
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- Current Issues in Migraine Genetics
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Lee JY, Kim M
- KMID: 2287710
- J Clin Neurol.
- 2005 Apr;1(1):8-13.
- doi: 10.3988/jcn.2005.1.1.8
Migraine often runs in families and is associated with both genetic and environmental factors. Clinical and genetic heterogeneity as well as the influence of environmental factors have hampered the identification... -
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- Genetic Alterations among Korean Melanoma Patients Showing Tumor Heterogeneity: A Comparison between Primary Tumors and Corresponding Metastatic Lesions
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Lee SH, Kim JE, Jang HS, Park KH, Oh BH, Shin SJ, Chung KY, Roh MR, Rha SY
- KMID: 2424809
- Cancer Res Treat.
- 2018 Oct;50(4):1378-1387.
- doi: 10.4143/crt.2017.535
PURPOSE: Melanoma is a highly heterogeneous neoplasm, composed of subpopulations of tumor cells with distinct molecular and biological phenotypes and genotypes. In this study, to determine the genetic heterogeneity between... -
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- Lack of Association between L48V Polymorphism in the UGT1A4 Gene and Lamotrigine-induced Rash
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Kim DW, Kim M, Lee SK, Kang R, Lee SY
- KMID: 1816507
- J Korean Epilepsy Soc.
- 2006 Jun;10(1):31-34.
PURPOSE: The aim of the present study was to determine whether an association exists between UGT1A4 gene polymorphisms (P24T and L48V) and the occurrence of lamotrigine (LTG)-induced rash. METHODS: Ten patients... -
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- Evaluation of Intratumoral HER-2 Heterogeneity by Fluorescence In Situ Hybridization in Invasive Breast Cancer: A Single Institution Study
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Lee S, Jung W, Hong SW, Koo JS
- KMID: 1777837
- J Korean Med Sci.
- 2011 Aug;26(8):1001-1006.
- doi: 10.3346/jkms.2011.26.8.1001
This study aimed to determine the incidence and characteristics of HER-2 gene heterogeneity in invasive breast cancer in a single institution. Included were 971 cases of primary invasive breast cancer... -
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- Changing concepts of cancer stem cells and their application into targeted therapy for cancer
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Lee DS, Kim SY
- KMID: 2193051
- J Korean Med Assoc.
- 2013 Jul;56(7):611-624.
- doi: 10.5124/jkma.2013.56.7.611
Cancer stem cells (CSCs) are characterized by self-proliferation, an ability for symmetric/asymmetric division and an ability to propagate cancer in vivo. Contrary to our expectation, CSCs show a quiescent nature,... -
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- Single-Cell Sequencing in Cancer: Recent Applications to Immunogenomics and Multi-omics Tools
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Sierant MC, Choi J
- KMID: 2439207
- Genomics Inform.
- 2018 Dec;16(4):e17.
- doi: 10.5808/GI.2018.16.4.e17
Tumor heterogeneity, the cellular mosaic of multiple lineages arising from the process of clonal evolution, has continued to thwart multi-omics analyses using traditional bulk sequencing methods. The application of single-cell... -
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- Megabladder and Bladder Diverticulum Associated With Ehlers-Danlos Syndrome in Female
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Boo MS, Choi CH, Choi HC, Min KS, Choi SH
- KMID: 2290185
- Korean J Urol.
- 1996 Jun;37(6):714-717.
The Ehlers-Danlos syndrome is a congenital anomaly having collagen metabolism with clinical and genetic heterogeneity. It has been classified into ten distinct clinical forms. Urinary bladder diverticula associated with Ehlers-Danlos... -
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- Genetic heterogeneity of Pneumocystis carinii from rats of several regions and strains
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Chung BS, Pars YK, Huh S, Yu JR, Kim J, Shi X, Cho SR, Lee SH, Hong ST
- KMID: 1720317
- Korean J Parasitol.
- 2000 Sep;38(3):151-158.
- doi: 10.3347/kjp.2000.38.3.151
Pneumocystis carinii is a major opportunistic pathogen which has been found in the lungs of a wide variety of mammalian host species, and the fact suggests the possibility of intraspecific... -
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- The Genetic and Clinical Study of Pseudoxanthoma Elasticum
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Hwang SW, Kim YG
- KMID: 1679267
- Korean J Dermatol.
- 1985 Jun;23(3):346-354.
A genetic and clinical study was done on 20 index cases and their families who had lived in Chonnam province, visited Chonnam University Hospital from 1968 through 1983, and were... -
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- Novel reassortants of clade 2.3.4.4 H5N6 highly pathogenic avian influenza viruses possessing genetic heterogeneity in South Korea in late 2017
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Lee YN, Cheon SH, Kye SJ, Lee EK, Sagong M, Heo GB, Kang YM, Cho HK, Kim YJ, Kang HM, Lee MH, Lee YJ
- KMID: 2427035
- J Vet Sci.
- 2018 Nov;19(6):850-854.
- doi: 10.4142/jvs.2018.19.6.850
Novel H5N6 highly pathogenic avian influenza viruses (HPAIVs) were isolated from duck farms and migratory bird habitats in South Korea in November to December 2017. Genetic analysis demonstrated that at... -
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- Non-Compact Cardiomyopathy or Ventricular Non-Compact Syndrome?
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Yin L
- KMID: 1980418
- J Cardiovasc Ultrasound.
- 2014 Dec;22(4):165-172.
- doi: 10.4250/jcu.2014.22.4.165
Ventricular myocardial non-compaction has been recognized and defined as a genetic cardiomyopathy by American Heart Association since 2006. The argument on the nomenclature and pathogenesis of this kind of ventricular... -
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- Pattern of Cognitive Decline with Age in the Elderly
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Park J
- KMID: 2338375
- J Korean Geriatr Soc.
- 2005 Sep;9(3):210-214.
OBJECTIVE: Examination of the changing pattern of cognitive function in old age. METHOD: Cross-sectional observation of MMSEK performances of the elderly living in a rural community. The mean and standard deviation,... -
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- Asthma and the Risk of Rheumatoid Arthritis: An Insight into the Heterogeneity and Phenotypes of Asthma
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Rolfes MC, Juhn YJ, Wi CI, Sheen YH
- KMID: 2375981
- Tuberc Respir Dis.
- 2017 Apr;80(2):113-135.
- doi: 10.4046/trd.2017.80.2.113
Asthma is traditionally regarded as a chronic airway disease, and recent literature proves its heterogeneity, based on distinctive clusters or phenotypes of asthma. In defining such asthma clusters, the nature... -
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