- Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism
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Kim JS, Lee KS, Kim YI, Lee KH, Kim HT
- KMID: 1779486
- Yonsei Med J.
- 2003 Apr;44(2):336-339.
- doi: 10.3349/ymj.2003.44.2.336
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom... -
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- Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates
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Helpman L, Zidan O, Friedman E, Kalfon S, Perri T, Ben-Baruch G, Korach J
- KMID: 2413221
- J Gynecol Oncol.
- 2017 Sep;28(5):e61.
- doi: 10.3802/jgo.2017.28.e61
OBJECTIVE: The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status. METHODS: Consecutive EOC patients diagnosed at or... -
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- Evaluation of the iNtRON VRE vanA/vanB Real-Time PCR Assay for Detection of Vancomycin-Resistant Enterococci
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Huh HJ, Jang MA, Seo JY, Kim JY, Ki CS, Kim JW, Lee NY
- KMID: 2363151
- Ann Lab Med.
- 2015 Jan;35(1):76-81.
- doi: 10.3343/alm.2015.35.1.76
BACKGROUND: Recently, the iNtRON VRE vanA/vanB real-time PCR (iNtRON; iNtRON Biotechnology, Korea) assay, a multiplex real-time PCR method, was introduced. In this prospective study, we compared the iNtRON assay with... -
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- Helicobacter pylori Eradication Downregulates Cellular Inhibitor of Apoptosis Protein 2 in Gastric Carcinogenesis
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Yoon H, Kim SG, Kim BK, Shin E, Kim N, Lee HJ, Kang GH, Jung HC
- KMID: 2412158
- Gut Liver.
- 2017 Jan;11(1):79-86.
- doi: 10.5009/gnl15585
BACKGROUND/AIMS: To evaluate the expression of cellular inhibitor of apoptosis protein 2 (cIAP2) during gastric carcinogenesis after Helicobacter pylori (HP) infection and after HP eradication. METHODS: We divided non-cancer patients into... -
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- Evaluation of PCR-Reverse Blot Hybridization Assay, REBA Sepsis-ID Test, for Simultaneous Identification of Bacterial Pathogens and mecA and van Genes from Blood Culture Bottles
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Park SD, Lee G, Wang HY, Park M, Kim S, Kim H, Kim J, Kim YK, Kim HY, Lee H, Uh Y, Kim JB
- KMID: 2129570
- Ann Lab Med.
- 2014 Nov;34(6):446-455.
- doi: 10.3343/alm.2014.34.6.446
BACKGROUND: The aim of this study was to evaluate a newly developed PCR-based reverse blot hybridization assay (PCR-REBA), REBA Sepsis-ID (M&D, Wonju, Korea), to rapidly detect the presence of bacteremia... -
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- Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
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Cali F, Ragalmuto , Chiavetta , Calabrese , Fichera M, Vinci M, Ruggeri G, Schinocca , Sturnio M, Romano S, Romano V, Elia M
- KMID: 1115268
- Exp Mol Med.
- 2010 Dec;42(12):842-848.
- doi: 10.3858/emm.2010.42.12.087
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to... -
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