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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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Molecular basis and diagnosis of thalassemia

Lee JS, Cho SI, Park SS, Seong MW

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis...
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Establishment of Pediatric Reference Intervals for Routine Laboratory Tests in Korean Population: A Retrospective Multicenter Analysis

Sung JY, Seo JD, Ko DH, Park MJ, Hwang SM, Oh S, Chun S, Seong MW, Song J, Song SH, Park SS

Background: Reference intervals defined for adults or children of other ethnicities cannot be applied in the evaluation of Korean pediatric patients. Pediatric reference intervals are difficult to establish because children...
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Erratum: COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays

Sung H, Roh KH, Hong KH, Seong MW, Ryoo N, Kim HS, Lee J, Kim SY, Ryu SW, Kim MN, Han MG, Lee SW, Lee H, Yoo CK, on behalf of COVID-19 Diagnosis Test Management Committee established by Korea Centers for Disease Control and Prevention

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Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

Lee JH, Park HJ, Seong MW, Park SS, Choi YC

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the...
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Hereditary Fructose Intolerance Diagnosed in Adulthood

Kim MS, Moon JS, Kim MJ, Seong MW, Park SS, Ko JS

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes...
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Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea

Hong KH, Lee SW, Kim TS, Huh HJ, Lee J, Kim SY, Park JS, Kim GJ, Sung H, Roh KH, Kim JS, Kim HS, Lee ST, Seong MW, Ryoo N, Lee H, Kwon KC, Yoo CK

The outbreak of coronavirus disease 2019 (COVID-19), which began in December 2019, is still ongoing in Korea, with >9,000 confirmed cases as of March 25, 2020. COVID-19 is a severe...
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A cluster of tertiary transmissions of 2019 novel coronavirus (SARS-CoV-2) in the community from infectors with common cold symptoms

Kim NJ, Choe PG, Park SJ, Lim J, Lee WJ, Kang CK, Park WB, Seong MW, Oh Md

Background/Aims: As the global impact of the novel coronavirus disease 2019 (COVID-19) has been severe, many countries have intensified containment activities to eliminate virus transmission, through early detection and isolation...
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In vitro activity of lopinavir/ritonavir and hydroxychloroquine against severe acute respiratory syndrome coronavirus 2 at concentrations achievable by usual doses

Kang CK, Seong MW, Choi SJ, Kim TS, Choe PG, Song SH, Kim NJ, Park WB, Oh Md

Background/Aims: As the coronavirus disease-2019 global pandemic progresses, screening of antiviral agents effective against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is urgently needed. In addition, considering the viral load...
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Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea

Kang MJ, Seong MW, Cho SI, Park JS, Jun JK, Park SS

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial...
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Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient

Lee YJ, Joo K, Seong MW, Park KH, Park SS, Woo SJ

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Three-Year Experience of an External ProficiencyTesting Survey for Next-Generation Sequencing-Based Testing for Germline Mutation

Seong MW, Kim M, Shin HS, Cho SI, Park SS

Background: Next-generation sequencing is a powerful technology thatallows simultaneous analysis of several genes but also demands a welldesignedquality management system owing to its complexity. We aimed toanalyze the results of...
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Virus Isolation from the First Patient with SARS-CoV-2 in Korea

Park WB, Kwon NJ, Choi SJ, Kang CK, Choe PG, Kim JY, Yun J, Lee GW, Seong MW, Kim NJ, Seo JS, Oh MD

Novel coronavirus (SARS-CoV-2) is found to cause a large outbreak started from Wuhan since December 2019 in China and SARS-CoV-2 infections have been reported with epidemiological linkage to China in...
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Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

Kim YH, Joo KS, Seong MW, Park SS, Woo SJ

No abstract available.
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COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays

Sung H, Roh KH, Hong KH, Seong MW, Ryoo N, Kim HS, Lee J, Kim SY, Yoo S, Kim MN, Han MG, Lee SW, Lee H, Yoo CK, on behalf of COVID-19 Diagnosis Test Management Committee established by Korea Centers for Disease Control and Prevention

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Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ

The authors regret that there were errors in Table 2 and Supplementary Table.
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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ

BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date,...
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Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic ‘Detective’ Identifies the ‘Rogue’ Hidden in the GLA Gene

Kwon S, Lee SP, Park SS, Kim BJ, Kim HK, Cho HJ, Seong MW, Sohn DW

No abstract available.
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A Case of Fungemia with Co-isolation of Candida parapsilosis and Trichosporon asahii Confirmed by MALDI-TOF MS and D2 rRNA Sequencing

Seo JD, Kim NH, Hong YJ, Kim TS, Hwang SM, Park JS, Seong MW, Park KU, Song J, Park SS, Kim EC

Fungi are a major cause of human infections with diverse clinical manifestations. The incidence of fungal infections has increased over time, particularly in patients who have risk factors such as...
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Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology

Lee YK, Kim HJ, Lee K, Park SH, Song SH, Seong MW, Kim M, Han JY

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence...
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