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Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants

Song Y, Kwon B, Al-Abdulwahhab AH, Nam YK, Ahn Y, Jeong SY, Seo EJ, Lee JK, Suh DC

Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients’ lives. However, these diseases are difficult to diagnose and...
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Clinical and Genetic Risk Factors Associated With the Presence of Lupus Nephritis

Shin JM, Kim D, Kwon YC, Ahn GY, Lee J, Park Y, Lee YK, Lee TH, Park DJ, Song YJ, Ha E, Kim K, Bang SY, Choi CB, Lee HS, Bae SC

Objective To elucidate whether clinical features and the weighted genetic risk score (wGRS) were associated with the presence of lupus nephritis (LN). Methods We retrospectively divided patients with systemic lupus...
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Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver–Russell Syndrome

Kim SY, Shin CH, Lee YA, Shin CH, Yang SW, Cho TJ, Ko JM

Background: Silver-Russell syndrome (SRS) is a pre- or post-natal growth retardation disorder caused by (epi)genetic alterations. We evaluated the molecular basis and clinical value of sequential epigenetic analysis in pediatric...
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Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses

Lee KS, Choi YJ, Cho J, Lee H, Lee H, Park SJ, Park JS, Hong YC

Background: The prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital...
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Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome

Lee SH, Jeong JE, Jang YY, Kim JK

Purpose: This study analyzed the clinical and genetic characteristics of young children with fragile X syndrome (FXS) and evaluated the significance of FXS genetic (FX) testing for children with global...
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Molecular detection and genetic diversity of bovine papillomavirus in dairy cows in Xinjiang, China

Meng Q, Ning C, Wang L, Ren Y, Li J, Xiao C, Li Y, Li Z, He Z, Cai X, Qiao J

Background: Bovine papillomatosis is a type of proliferative tumor disease of skin and mucosae caused by bovine papillomavirus (BPV). As a transboundary and emerging disease in cattle, it poses a...
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Association of Combined TCF7L2 and KCNQ1 Gene Polymorphisms with Diabetic Micro- and Macrovascular Complications in Type 2 Diabetes Mellitus

Rattanatham R, Settasatian N, Komanasin N, Kukongviriyapan U, Sawanyawisuth K, Intharaphet P, Senthong V, Settasatian C

Background: Vascular complications are the major morbid consequences of type 2 diabetes mellitus (T2DM). The transcription factor 7-like 2 (TCF7L2), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), and inwardly-rectifying...
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Loss-of-function HSD17B13 variants, non-alcoholic steatohepatitis and adverse liver outcomes: Results from a multi-ethnic Asian cohort

Ting YW, Kong ASY, Zain SM, Chan WK, Tan HL, Mohamed Z, Pung YF, Mohamed R

Background/Aims: 17β-hydroxysteroid dehydrogenase 13 (HSD17B13) variants were recently reported to have significantly lower odds of non-alcoholic fatty liver disease (NAFLD). This is a two-part study that aimed to evaluate the...
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Polymorphisms in TYMS for Prediction of Capecitabine-Induced Hand-Foot Syndrome in Chinese Patients with Colorectal Cancer

Dong SQ, Wang TM, Zhang JB, He YQ, Xue WQ, Wu ZY, Yang DW, Cao LJ, Huang JW, Li XZ, Zhang PF, Zheng XH, Jia WH

Purpose Capecitabine is an extensively used oral prodrug of 5-fluorouracil in treatment of colon cancer and is known to cause hand-foot syndrome (HFS). As the target enzyme for capecitabine, thymidylate...
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Clinical Genetic Testing in Children with Kidney Disease

Kang E, Lee BH

Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies...
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A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

Jeong IH, Yoo JH, Kim N

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of...
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The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang JA, Sohn YB, Lee JH, Park MS

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies...
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Psychological effects and risk perception after genetic counseling

Shin S, Ryu MR, Kwon WK, Kim S, Jang JH, Kim JW

Purpose: Demand for genetic counseling on cancer predisposition syndrome is increasing. We evaluated the psychological effect on counselees after genetic counseling at a clinic in a single center. Materials and Methods:...
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Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

Park HS, Kim A, Shin KS, Son BR

Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in...
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Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes

Shin YL

Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith–Wiedemann syndrome (BWS) and...
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Treatment strategies targeting specific genetic etiologies in epilepsy

Kim HJ, Kang HC

Recent genetic advances allow for identification of the genetic etiologies of epilepsy within individual patients earlier and more frequently than ever. Specific targeted treatments have emerged from improvements in understanding...
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Update on Genetic Study of Vestibular Disorder

Choi JH

The wide availability of next-generation sequencing has enabled a rapid progress in the discovery of genetic variants associated with many disorders. However, the contribution of genetic factors in vestibular disorders...
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Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Ahmari AA, Alsmadi O, Sheereen A, Elamin T, Jabr A, El-Baik L, Alhissi S, Saud BA, Al-Awwami M, Fawaz IA, Ayas M, Siddiqui K, Hawwari A

Background Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients. Methods FHL associated gene screening was performed on 87 Saudi patients who...
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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

Qiu J, Kumar KR, Watson E, Ahmad K, Sue CM, Hayes MW

The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported...
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Multicenter Targeted Population Screening of Late Onset Pompe Disease in Unspecified Myopathy Patients in Korea

Lee JH, Shin JH, Kim DS, Kim KK, Kim BJ, Seok JM, Sung JJ, Nam TS, Park YE, Park JS, Kim SZ, Choi YC

Background: Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy...
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