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Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene

Kim JY, Park JH, Sohng C, Jang YH, Lee SJ, Lee WJ

No abstract available.
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Analysis of RET Gene Point Mutation in a Family with Multiple Endocrine Neoplasia Type 2A

Kim SW, Lee KD, Kim JY, Moon HS, Kim YR, Park YH, Lee KS

  • KMID: 2276772
  • Korean J Otolaryngol-Head Neck Surg.
  • 2007 Jun;50(6):529-536.
BACKGROUND AND OBJECTIVES: Multiple Endocrine Neoplasia type 2A (MEN 2A) is a syndrome that encompasses medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Since MEN 2A is inherited as autosomal dominant, early...
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Relationship between Mitochondrial DNA Point Mutation and Noise-induced Sensorineural Hearing Loss

Park SH, Kim TW, Lee MY, Bae JH, Shin DH

  • KMID: 1589163
  • Korean J Aerosp Environ Med.
  • 2005 Dec;15(3):93-99.
BACKGROUND: A different sequence change in the mitochondrial 12S rRNA gene has been proposed as a candidate mutation in the sensorineural hearing loss. The purpose of this study was to...
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Analysis of RET Gene Point Mutation in a Family with Familial Medullary Thyroid Carcinoma

Lee KD, Mun HS, Kim JY, Chung H, Choi SH, Ha NW, Uchino S

  • KMID: 2276221
  • Korean J Otolaryngol-Head Neck Surg.
  • 2004 Sep;47(9):904-910.
BACKGROUND AND OBJECTIVES: Hereditary medullary thyroid carcinoma is presented as a part of MEN2A (65-75%) or MEN2B, but can also be inherited alone, which is called familial medullary thyroid carcinoma....
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The Frequency of Mitochondrial Gene Point Mutations in Korean Non-syndromic Sensorineural Hearing Loss

Jeong HS, Lim MJ, Chang SO, Kim CS, Oh SH

  • KMID: 2276112
  • Korean J Otolaryngol-Head Neck Surg.
  • 2004 Mar;47(3):206-211.
BACKGROUND AND OBJECTIVES: Mitochondrial point mutations have been shown to be responsible for syndromic and non-syndromic hearing impairment. Among these mitochondrial point mutations, 1555 A-->G, 3243 A-->G, and 7445 A-->G...
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Detection of point mutation at C-terminal region of phagosomal coat protein (TACO) in patients with leprosy

Kim SK, Kang TJ, Kim BC, Chae GT

  • KMID: 1516979
  • Korean Lepr Bull.
  • 2003 Jul;36(1):11-26.
Mycobacteria, which are highly successful pathogen, resist delivary to lysosomes and instead survive within a specialized vacuole, the mycobacterial phagosome. The bacteria survive intracellularly because they are able to actively...
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Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?

Yoon SS, Lee MS, Kim MH, Lee TG, Chang DI, Chung KC

  • KMID: 2195081
  • J Korean Neurol Assoc.
  • 2003 Jun;21(3):311-314.
We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of...
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Detection of an Ala601Thr Mutation of Plasminogen Gene in 3 out of 36 Korean Patients with Deep Vein Thrombosis

Song KS, Lee SM, Choi JR

Plasminogen is a key proenzyme in the fibrinolytic and thrombolytic systems. Congenital deficiency of plasminogen and molecular abnormality of plasminogen (dysplasminogenemia) have been reported in association with the thrombotic tendency...
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A Novel Mutation (C67Y) in the NOTCH3 Gene in a Korean CADASIL Patient

Na DL, Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL

We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel...
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Early Detection of Medullary Thyroid Cancer by Screening of the RET Proto-oncogene Germ Line Point Mutation in Family Members Affected with Hereditary Medullary Thyroid Cancer

Kim SW, Kim TY, Park YJ, Kim WB, Shin CS, Park DJ, Park KS, Kim SY, Cho BY, Lee HK

  • KMID: 2331156
  • J Korean Soc Endocrinol.
  • 2001 Feb;16(1):54-64.
BACKGROUND: Conventional biochemical screening for family members with hereditary medullary thyroid cancer (MTC) is associated with problems of sensitivity and, specificity and it frequently detects gene carriers only after disease...
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Detection of Point Mutations in the rpoB gene Related to Drug Susceptibility in Mycobacterium Tuberculosis using an Oligonucleotide Chip

Kim HJ, Kim SK, Shim TS, Park YD, Park M

BACKGROUND: The appearance of multiple-drug-resistant Mycobacterium tuberculosis strains has been seriously compromising successful control of tuberculosis. Rifampin-resistance, caused by mutations in the rpoB gene, can be indicative of multiple-drug-resistance, and...
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Characterization of a Point Mutation in the First Intron of Bruton's Tyrosine Kinase ( Btk ) Gene

Jo EK, Song CH, Song YJ, Min DL, Kim HJ, Lim K, Shong MH, Lee JH, Kim JS, Park JK

  • KMID: 1646429
  • Korean J Immunol.
  • 2000 Dec;22(4):197-205.
No abstract available.
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Clinical Significance of p53 Protein Expression and K-ras Point Mutation in Pancreatic Cancer and Chronic Pancreatitis

Roe IH, Nam SW, Lee MI, Hwang YJ, Lee BS, Park HJ, Kim BH, Kim JT, Cho CH

  • KMID: 2240333
  • Korean J Gastroenterol.
  • 2000 May;35(5):629-637.
BACKGROUND/AIMS: The aims of this study were to evaluate the expression rate of p53 protein and K-ras mutation in pancreatic carcinogenesis, and to determine their clinical significance. METHODS: Specimens were obtained from 26...
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Non-amplification of an Allele of D8S1179 Locus Due to Point Mutation in Flanking Region

Han GR, Hwang JJ

  • KMID: 1849254
  • Korean J Leg Med.
  • 2000 May;24(1):33-42.
AmpFlSTR Profiler PlusTM PCR amplification system is highly efficient commercial DNA profiling system that are used by many institute for forensic individual identification. During the population study of 128 true...
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HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population

Lee JY, Yoo KH, Hahn SH

Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron...
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Detection of Point Mutations in the K-ras Oncogene in Pancreatic Juice for Differential Diagnosis between Pancreatic Carcinoma and Chronic Pancreatitis

Oh HT, Roe IH, Lee MI, Hwang EC, Lee MS, Kim SB, Song IH, Yang MR, Lee HS, Lee JH

  • KMID: 1772572
  • Korean J Gastroenterol.
  • 1999 Dec;34(6):806-814.
BACKGROUND/AIMS: Mutations in K-ras oncogene at codon 12 are detected in 80-90% of pancreatic carcinomas, which is suggested to be a critical event in the early stage of oncogenesis. The...
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The Incidence of Microsatellite Instability, p53 Point Mutations and p53 Protein Expressions in Transitional Cell Carcinoma of the Bladder

Kwon TG, Chung SK, Kim BW, Kim JA, Kim JW

  • KMID: 2290395
  • Korean J Urol.
  • 1999 Nov;40(11):1449-1458.
PURPROSE: The objectives of this study is to evaluate the role of microsatellite instability(MI) and p53 gene inactivation in transitional cell carcinoma(TCC) of the bladder. MATERIALS AND METHODS: Total 31...
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Analysis of Inactivating Point Mutation of the Follicle Stimulating Hormone Receptor Gene in Korean Infertile Men

Lee HS, Song GJ, Cheon K, Park YS, Kim JW, Kim JH, Lee YS, Seo JT

  • KMID: 2298638
  • Korean J Androl.
  • 1999 Aug;17(2):107-110.
PURPOSE: Follicle stimulating hormone (FSH) is essential for normal gametogenesis. In females FSH is required for ovarian development and follicle maturation whereas in males FSH determines Sertoli cell number and...
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Analysis of the precore and core promoter DNA sequence in liver tissues from tients with hepatocellular carcinoma

Cho SW, Shin YJ, Hahm KB, Jin JH, Kim YS, Kim JH, Kim HJ

To investigate the role of mutant hepatitis B virus (HBV) in the development of hepatocellular carcinoma (HCC), 20 patients with HCC were studied for precore and core promoter mutations in...
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Point Mutations at alpha-Synuclein Gene are not Found in Korean Familial Parkinson's Disease

Lyoo CH, Kim HS, Kim YD, Kim JH, Lee MS

  • KMID: 1905133
  • J Korean Neurol Assoc.
  • 1999 Jul;17(4):534-540.
BACKGROUND: Recent developments of molecular biological techniques have enabled the identification of genetic abnormalities responsible for the development of familial Parkinson's disease (PD). The alpha-synuclein, a major component of Lewy...
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