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Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

Gu H, Kim MJ, Yang D, Song JY, Cho SI, Park SS, Seong MW

Background: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and...
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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

Kim KH, Song JS, Park CW, Ki CS, Heo K

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin...
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Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

Yum MS, Lee BH, Kim GH, Lee JJ, Choi SH, Lee JY, Kim JM, Kim YM, Ko TS, Yoo HW

PURPOSE: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of...
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Molecular and Clinical Characteristics of Myotonic Dystrophy Type 1 in Koreans

Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features...
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Allele distribution of FMR1 gene in Korean women

Song KC, Kim GJ, Whang YJ, Choi SR, Lee SP, Whang BC, Lee ED

  • KMID: 2270288
  • Korean J Obstet Gynecol.
  • 2002 Jun;45(6):990-993.
OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of...
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Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation

Choi YM, Hwang DY, Jun JK, Choe J, Park SH, Noh MK, Oh SK, Ku SY, Suh CS, Kim SH, Yang SW, Cho SC, Moon SY, Lee JY

  • KMID: 2075935
  • Korean J Obstet Gynecol.
  • 1999 Nov;42(11):2458-2464.
Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However,...
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Amplication of C-myc and rearrangement of erb B2 in bladder cancer

Kim DK

  • KMID: 1530056
  • Korean J Anat.
  • 1998 Apr;31(2):201-204.
In order to eluciate the involvement of oncogene and tumor suprrssor gene in the tumorigenesis of human bladder tumor, I examined eleven bladder tumor tissues with Southern blot hybridization. For...
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Diagnosis of Fragile X Syndrome and DMD by using DIG System

Lee SH, Cho SW, Han JH, Lee KW, Cha KE, Han SY, Kay CW, Cho SH, Oum KB, Kwak IP

  • KMID: 2026749
  • Korean J Obstet Gynecol.
  • 1998 Nov;41(11):2849-2854.
The aim of this study was to develop a rapid and safe non-radioactive DIG DNA labeling and detection for Southern blot analysis for fragile X syndrome and Duchenne muscular dystrophy...
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Homozygous Deletion of CDK4I in Acute Leukemia

Kwon JA, Lee KN

  • KMID: 1849137
  • Korean J Hematol.
  • 1998 Oct;33(3):322-333.
BACKGROUND: The CDK4I (cyclin dependent kinase 4 inhibitor) gene is on the chromosome 9p21. It encodes p16, which binds to CDK4, and inhibits phosphorylation of retinoblastoma protein (pRb) by D-type...
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The Analysis of Mitochondrial DNA in the Failing and Normal Hearts

Choi HS, Kim HS, Oh BH, Lee MM, Choe SC, Hong SK, Sohn DW, Park YB, Choi YS, Seo JD, Lee YW

  • KMID: 2251563
  • Korean J Med.
  • 1997 Sep;53(3):404-413.
OBJECTIVE: The aim of this study is to analyze the mitochondrial DNA in failing and normal hearts. METHODS: Genomic DNA was extracted from 18 failing and 4 normal hearts. The DNA...
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Distinct Pattern of GAD65 and GAD67 Gene Expression in the Pancreas of NOD Mouse

Ko IY, Kang Y

  • KMID: 2137369
  • J Korean Diabetes Assoc.
  • 1997 Sep;21(3):243-253.
BACKGROUND: Glutamic acid decarboxylase(GAD; EC 4.1.1.15), one of the major B-cell autoantigens in IDDM, is an enzyme which catalyzes the synthesis of major inhibitory neurotransmitter, r-aminobutyric acid (GARA), in the...
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Amplification of Cyclin D1 in Head and Neck Squamous Cell Carcinomas

Tae K, Lee HS, Park CW, Ahn KS, Cho YH, Kong G

  • KMID: 2274340
  • Korean J Otolaryngol-Head Neck Surg.
  • 1997 Aug;40(8):1128-1132.
BACKGROUND: Amplification of the chromosome 11q13 region has been observed in a variety of human cancers, including head and neck squamous cell carcinoma and carcinomas of breast, esophagus, lung, bladder,...
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Hematological Significance of Southern Blot Test for bcr-abl Rearrangement and the Breakpoints within Major bcr in Chronic Myelogenous Leukemia

Park SS, Lee YK, Cho SI, Cho HI

  • KMID: 1907541
  • J Clin Pathol Qual Control.
  • 1997 Dec;19(2):261-271.
BACKGROUND: Bcr-abl rearrangement is the molecular hallmark of chronic myelogenous leukemia, of which analysis is the standard test for the diagnosis of chronic myelogenous leukemia (CML). Southern blot analysis is...
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Neuroepithelial Tumor Relevant Genes

Lee HC, Kim DW, Choi IJ, Lee JC, Son EI, Yim MB, Kim IH

  • KMID: 1673073
  • J Korean Neurosurg Soc.
  • 1994 Aug;23(8):924-931.
Cancer may be a disease of genes, arising from genetic damage of diverse sorts-recessive and dominant mutations, large rearrangement of DNA and gene translocation on chromosomes, all leading to distorisions...
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Enhanced expression of the c-myc protooncogene in human intracranial meningiomas

Kim JH, Lee SH, Cho KJ, Jang JJ, Hong SI, Lee JO

We examined the alteration and expression of c-myc protooncogene in 11 human intracranial meningiomas using Southern blot, Northern blot and immunohistochemical techniques. Southern blot showed neither amplification nor rearrangement but...
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Diagnosis of x-linked ichthyosis and detection of its carriers with southern blot hybidization

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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Detection of herpes simplex virus DNA in cutaneous lesions of erythema multiforme by the polymerase chain reaction

Choi JH

  • KMID: 2230926
  • Korean J Dermatol.
  • 1992 Jun;30(3):325-333.
Herpes simplex virus(HSV) infection has long been considered as a cause of erythema multiform(EM), especially the recurrent type, although its exact role in the pathogenesis of herpes-associated erytherna multiforme(HAEM) is...
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Loss of Heterozygosity of Chromosome 17p in Brain Tumors

Baek SH, Kim ES, Kim DG, Jung HW, Kim HJ, Cho BK, Han DH, Lee SH, Kim JH

  • KMID: 2019506
  • J Korean Neurosurg Soc.
  • 1992 Jan;21(1):23-29.
With the methods of restriction fragment length polymorphisms(RFLPs) and southern blot analysis, gene deletion of chromosome 17p in 16 cases of brain tumors, was investigated. There were 4 cases of...
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Molecular Genetic Study on Human Meningiomas:Loss of Heterozygosity on Chromosome 22

Kim JH, Lee SH, Park SY, Lee JH

  • KMID: 2138513
  • J Korean Neurosurg Soc.
  • 1991 Apr;20(4):193-198.
With the methods of restriction fragment length polymorphisms(RFLPs) and Southern blot, we performed a molecular genetic study in 20 cases of intracranial meningiomas. There were four cases of invasive meningiomas,...
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Detection of Human Papillomavirus DNA in Condylomata Acuminata Patients using Molecular Hybridization

Park KC, Lee SH, Lee YS, Kim YK, Park HB, Seo JS

  • KMID: 2085665
  • Korean J Dermatol.
  • 1989 Dec;27(6):660-665.
Condylomata acuminata are benign tumors which are mostly venereally transmitted. Common sites were coronal sulcus, perisnal area and prepuce. Among 28 patients, 21 acuminate lesions and 10 papular lesions were...
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