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Report on the External Quality Assessment Scheme for Genetic Disorders and Other Human Genetics Molecular Diagnostics in Korea (2018–2021)

Lee H, Kim B, Kim MJ, Lee JS, Cho SI, Shin HS, Seong MW

The human genetics molecular diagnostic proficiency testing program of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials annually from 2018–2021. The program consisted of the same...
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ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis

Hahn JW, Moon SY, Kim MS, Woo MH, Sohn MJ, Kim HY, Seong MW, Park SS, Park SH, Moon JS, Ko JS

  • KMID: 2523789
  • J Neurogastroenterol Motil.
  • 2022 Jan;28(1):104-110.
  • doi: 10.5056/jnm20243
Background/Aims Chronic intestinal pseudo-obstruction (CIPO) is a clinically heterogeneous syndrome characterized by compromised peristalsis and intestinal obstruction. Variants of actin gamma 2 (ACTG2), a protein crucial for correct enteric muscle contraction,...
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Evaluation of the AccuPower® RV1 Real-Time RT-PCR Kit and the AccuPower® RV1 Multiplex Kit for SARS-CoV-2 and Influenza Virus Detection

Kim MJ, Park H, Jeon YL, Shin HS, Cho SI, Kim B, Lee JS, Park SS, Seong MW

Background: The AccuPower® RV1 Real-Time RT-PCR Kit (Bioneer, Korea) and AccuPower® RV1 Multiplex Kit (Bioneer) are one-step real-time reverse transcription PCR assays for detecting severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)...
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Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples

Kim MJ, Song BJ, Kim SE, Lee CS, Im JE, Oh E, Lee K, Cho SI, Kim KJ, Park SS, Seong MW

Background: While several factors contribute to breast cancer pathogenesis, hereditary breast cancer results from a genetic predisposition. Genes associated with hereditary breast cancer may be divided into high- and low-penetrance genes...
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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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Diagnosis for Pheochromocytoma and Paraganglioma: A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force

Ku EJ, Kim KJ, Kim JH, Kim MK, Ahn CH, Lee KA, Lee SH, Lee YB, Park KH, Choi YM, Hong N, Hong AR, Kang SW, Park BK, Seong MW, Kim M, Jung KC, Jung CK, Cho YS, Paeng JC, Kim JH, Ryu OH, Rhee Y, Kim CH, Lee EJ

Pheochromocytoma and paraganglioma (PPGLs) are rare catecholamine-secreting neuroendocrine tumors but can be life-threatening. Although most PPGLs are benign, approximately 10% have metastatic potential. Approximately 40% cases are reported as harboring...
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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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Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia

Han H, Byun JM, Shin DY, Yoon SS, Koh Y, Hong J, Kim I, Lee C, Yoo H, Yun H, Kim MJ, Cho SI, Seong MW, Park SS

Background/Aims: Understanding leukemic stem cell (LSC) is important for acute myeloid leukemia (AML) treatment. However, association of LSC with patient prognosis and genetic information in AML patients is unclear. Methods: Here...
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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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Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

Seo SH, Kim JH, Kim MJ, Cho SI, Kim SJ, Kang H, Shin CS, Park SS, Lee KE, Seong MW

Background: Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline...
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SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing

Kim H, Min YG, Hong SB, Kim MJ, Seong MW, Shin JY

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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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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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