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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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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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CORRIGENDUM: The effect of curative resection on fecal microbiota in patients with colorectal cancer: a prospective pilot study

Park SS, Kim B, Kim MJ, Roh SJ, Park SC, Kim BC, Han KS, Hong CW, Sohn DK, Oh JH

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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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The Effects of Social Participation Attitude, Social Support, and Empowerment on Ageism Experience in the Elderly Using Welfare Centers

Kim DR, Ryu JH, Moon HW, Min SH, Jeong IY, Park SS, Lee GR

Purpose: This study was conducted to investigate the factors affecting the discrimination of the elderly using welfare centers. Methods: A cross-sectional study was conducted with 217 elderly people from a...
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KRAS, NRAS, and BRAF mutations in plasma cell myeloma at a single Korean institute

Kim Y, Park SS, Min CK, Lee GD, Son J, Jo S, Han E, Han K, Kim M

Background Plasma cell myeloma (PCM) is a genetically heterogeneous disease. The genetic spectrum of PCM has been expanded to mutations such as KRAS, NRAS, and BRAF genes in the RAS-RAF-MAPK pathway....
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Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7

Yoo D, Choi JH, Im JH, Kim MJ, Kim HJ, Park SS, Jeon B

F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here,...
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Small Bowel Perforation Associated With Gastrointestinal Graft-Versus-Host Disease and Cytomegalovirus Enteritis in a Patient With Leukemia: A Case Report With Literature Review

Song KS, Kim MJ, Lim HK, Hong YH, Park SS, Hong CW, Park SC, Sohn DK, Han KS, Oh JH

Gastrointestinal graft-versus-host disease (GVHD) is a common complication after hematopoietic stem cell transplantation. Concomitant cytomegalovirus (CMV) enteritis worsens the prognosis of this condition. We report a case of small bowel...
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The effect of curative resection on fecal microbiota in patients with colorectal cancer: a prospective pilot study

Park SS, Kim B, Kim MJ, Roh SJ, Park SC, Kim BC, Han KS, Hong CW, Sohn DK, Oh JH

Purpose: Although many studies have evaluated the association between intestinal microorganisms and the risk of colorectal cancer (CRC), only a few studies have investigated the changes in microorganisms following curative...
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Successful Pregnancy and Delivery with Intracytoplasmic Sperm Injection in HIV-Serodiscordant Couple: the First Case in Korea

Seong JS, Kim H, Park WB, Kim NJ, Oh Md, Park SS, Park JS, Choi YM

With highly active antiretroviral therapy, human immunodeficiency virus (HIV) infection is considered to be a manageable chronic disease. The improved prognosis increases the desire of individuals with HIV to have...
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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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Treadmill Exercise Improves Motor Function and Short-term Memory by Enhancing Synaptic Plasticity and Neurogenesis in Photothrombotic Stroke Mice

Hong M, Kim M, Kim TW, Park SS, Kim MK, Park YH, Sung YH, Shin MS

Purpose: Thrombotic stroke is a type of ischemic stroke characterized by motor dysfunction and memory impairments. In the present study, the effect of treadmill exercise on motor function and short-term...
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Characteristics of minute T1 colorectal cancer in relevance to pathology and treatment

Park SH, Oh SO, Park SS, Roh SJ, Han KS, Kim B, Hong CW, Kim BC, Sohn DK, Chang HJ, Park SC, Oh JH

Purpose: Minute T1 colorectal cancer (CRC) lesions (≤5 mm) are rare; however, little is known about their characteristics and aggressiveness. In this study, we evaluated the characteristics of minute T1...
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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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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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Brainstem-Predominant Lewy-Related Pathology in a Patient with Parkinson’s Disease without Dementia

Choi JH, Park SH, Park SS, Jeon B

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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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Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

Kim JY, Park SS, Yang HR

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal...
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