- Carrier Detection and Prenatal Diagnosis of Hemophilia A in a Korean Population by Analysis of Two Variable Dinucleotide Tandem Repeats within the Factor VIII Gene
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Choi YM, Choe J, Hwang DY, Park SH, Jun JK, Ku SY, Suh CS, Kim SH, Kim JK, Moon SY, Lee JY, Kim EJ
- KMID: 2261932
- Korean J Obstet Gynecol.
- 2000 May;43(5):771-776.
We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor VIII gene for carrier detection and prenatal diagnosis of hemophilia A in the... -
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- Estrogen Receptor Dinucleotide Polymorphism in Patients with Endometriosis
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Choi YM, Ku SY, Oh ST, Hwang KR, Kang SB, Park SH, Chang ER, Park NH, Park IA, Jun JK, Suh CS, Kim SH, Kim JG, Moon SY
- KMID: 2272376
- Korean J Obstet Gynecol.
- 2004 Jun;47(6):1204-1209.
OBJECTIVE: To explore the association of the estrogen receptor dinucleotide repeat polymorphism with the risk of endometriosis. DESIGN: Case-control study. METHODS: One hundred fifty-one women with surgically or histologically diagnosed endometriosis of... -
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- Failure to Support Associations of Neurotrophin-3(NT-3) Gene Polymorphism in Korean Schizophrenic Patients
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Lee YS
- KMID: 2202985
- J Korean Soc Biol Psychiatry.
- 1997 Nov;4(2):234-236.
Though initial report from Japan showed positive association of schizophrenia with dinucleotide repeat polymorphism in the NT-3 gene, subsequent studies showed mixed results. Therefore we conducted a replication study with... -
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- Two dinucleotide repeat polymorphisms (AC/TG and GT/CA) in the 5' upstream region of the mouse tryptophan hydroxylase gene
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Yim SV, Chi SG, Chung SH, Lee HJ, Kim MJ, Park SJ, Jung JC, Chung JH
- KMID: 2071551
- Korean J Physiol Pharmacol.
- 1999 Oct;3(5):501-505.
Tryptophan hydroxylase (TPH), the rate-limiting enzyme in serotonin biosynthesis, is primarily expressed in serotonergic neurons of the raphe nuclei. Simple tandem repeat polymorphisms, typically one to four nucleotides long, are tandemly repeated several... -
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- Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by fluorescent pcr analysis of dinucleotide repeats in intron 13 and intron 22 of the factor VIII gene
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Lee MR, Park SH, Choi YM, Jun JK, Lee GH, Choe J, Hwang DY, Ku SY, Moon SY, Kim EJ
- KMID: 2273721
- Korean J Obstet Gynecol.
- 2009 May;52(5):552-558.
OBJECTIVE: To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron... -
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- Association of(G-T)n Dinucleotide Repeat Polymorphism of 5'-Flanking Region of TIGR/MYOC with Normal-Tension Glaucoma and Steroid-Induced Glaucoma
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Cho CH, Hur WH, Kee C
- KMID: 2125029
- J Korean Ophthalmol Soc.
- 2001 Jun;42(6):889-892.
PURPOSE: We investigated whether TIGR/MYOC, a candidate gene for the primary open angle glaucoma(POAG) is also involved in the pathogenesis of normal tension glaucoma(NTG) and steroid-induced glau-coma(SIG). METHODS: Genomic DNA... -
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- Lack of the Association between Microsatellite Polymorphism in Toll-like Receptor 2 Gene and Development of COPD
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Lee HS, Lee HW, Kim DK, Ko DS, Park GM, Hwang YI, Lee SM, Yoo CG, Kim YW, Han SK, Shim YS, Yim JJ
- KMID: 2318549
- Tuberc Respir Dis.
- 2005 Apr;58(4):367-374.
BACKGROUND: The fact that only 10-20% of chronic cigarette smokers develop chronic obstructive pulmonary disease (COPD) reflects the presence of genetic factors associated with the susceptibility to COPD. Recently, it... -
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- Identification of an i(21q) by Using Dinucleotide Repeat Polymorphisms
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Kim KH, Kim TG, Han JY, Kim JM, Park JI, Kim IH
- KMID: 2039333
- Korean J Clin Pathol.
- 1997 Feb;17(1):183-189.
BACKGROUND: Recent DNA polymorphism analysis using numerous DNA markers has been used to determine the parental origin of the extra chromosome 21 in Down syndrome. In this study we used... -
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- The Association of Aldose Reductase Gene Polymorphisms with Neuropathy in Patients with Type 2 Diabetes
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Jeong IK, Park KS, Moon MK, Kim JH, Shin CS, Kim SY, Lee HK
- KMID: 1523016
- J Korean Diabetes Assoc.
- 2007 May;31(3):274-283.
- doi: 10.4093/jkda.2007.31.3.274
BACKGROUND: Previous studies have suggested that polymorphisms in and around the aldose reductase (AR) gene are associated with the development of diabetic microvascular disease. This study explored the hypothesis that... -
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- Microsatellite Instability in Non-Small Cell Lung Cancer
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Jeon HS, Kim JR, Son JW, Park SH, Park TI, Kim CH, Kim IS, Jung TH, Park JY
- KMID: 2318271
- Tuberc Respir Dis.
- 2000 Jan;48(1):24-32.
PURPOSE: Microsatellite instability (MSI) is frequently used as an indicative of microsatellite mutator phenotype (MMP) tumors. MSI has been observed in a fraction of non-small cell lung cancer (NSCLC). However,... -
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- An Assiociation Study of Interleukin-2 Receptor beta-Chain Gene Polymorphism on Chromosome 22 in Korean Schizophrenic Patients
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Kim YK, Lee MS, Kim L, Kwak DI, Suh KY
- KMID: 2340167
- J Korean Neuropsychiatr Assoc.
- 1998 May;37(3):515-526.
BACKGROUND: While a significant genetic predisposition to schizophrenia has been proposed, the mode of inheritance or nature of etiological factors is unknown. Previous reports of a genome-wide survey for schizophrenia... -
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- HMOX1 Gene Promoter Polymorphism is Not Associated with Coronary Artery Disease in Koreans
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Han SW, Song W, Kim HS, Shin KS, Kang H, Cho HC, Ki CS, Park MJ
- KMID: 1791947
- Ann Lab Med.
- 2014 Sep;34(5):337-344.
- doi: 10.3343/alm.2014.34.5.337
BACKGROUND: The heme oxygenase-1 gene (HMOX1) promoter polymorphisms modulate its transcription in response to oxidative stress. This study screened for HMOX1 polymorphisms and investigated the association between HMOX1 polymorphisms and... -
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- Clinical Implications of Microsatellite Instability in Early Gastric Cancer
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Kim DG, An JY, Kim H, Shin SJ, Choi S, Seo WJ, Roh CK, Cho M, Son T, Kim HI, Cheong JH, Hyung WJ, Noh SH, Choi YY
- KMID: 2466031
- J Gastric Cancer.
- 2019 Dec;19(4):427-437.
- doi: 10.5230/jgc.2019.19.e38
PURPOSE: We aimed to evaluate the clinical characteristics of microsatellite instability in early gastric cancer. MATERIALS AND METHODS: The microsatellite instability status of resected early gastric tumors was evaluated using two... -
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- Genetic Alteration of p16INKA4A Promoter Region in Endometrial Carcinoma
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Kim SJ, Chong GO, Kim AY, Park CM, Lee HJ, Cho YL, Park IS, Lee YS
- KMID: 2244594
- Korean J Gynecol Oncol.
- 2005 Mar;16(1):8-20.
OBJECTIVE: This study was performed to evaluate the status of p16 tumor suppressor gene in 25 endometrial carcinomas (ECs) and to correlate the loss of heterozygosity (LOH) at p16 locus,... -
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- Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis
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Kim HS, Kang YS, Noh CI, Choi JY, Yun YS, Lee KH
- KMID: 1946323
- J Korean Pediatr Soc.
- 1999 Jan;42(1):47-59.
PURPOSE: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes... -
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- The Impact of Gene Polymorphisms of Interleukin-10 and Interferon-gamma on the Clinical Courses of Renal Transplant Patients in Korea
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Park SH, Kang KJ, Song YR, Chae DW, Oh KH, Kim SG, Noh JW, Lee YK, Lim CS, Kim YS, Kim S
- KMID: 1989643
- Korean J Nephrol.
- 2002 Nov;21(6):990-999.
BACKGROUND: The single nucleotide polymorphism (SNP) of interleukin-10 and the variable number of tandem repeat (VNTR) of CA dinucleotide of Interferon-gamma are reported to have an influence on the production... -
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- A Family-based and Case-control Association Study of the Dopamine D5 Receptor Gene Polymorphism in Attention Deficit Hyperactivity Disorder
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Park TW, Kim BN, Im MH, Yoo HJ, Kang D, Cho SC, Yoo IH, Cho EC, Paek SY, Pae CU, Suh YJ
- KMID: 2341061
- J Korean Neuropsychiatr Assoc.
- 2005 Jan;44(1):32-40.
OBJECTIVES: Recent genetic studies have suggested a preferential transmission of the Dopamine D5 receptor gene (DRD5) 148bp marker allele. The aim of this study is to test the association between... -
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