Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

45 results
Display

Tubulopathy: the clinical and genetic approach in diagnosis

Joung J, Cho H

Remarkable advances in genetic diagnosis expanded our knowledge about inherited tubulopathies and other genetic kidney diseases. This review suggests a simple categorization of inherited tubular disease, clarifies the concept of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Hereditary Leiomyomatosis and Renal Cell Cancer: A Case Report of Pilar Leiomyomatosis with History of Kidney Cancer and Review of the Literature

Kim JW, Shin JW, Cho A, Huh CH

Pilar leiomyoma or piloleiomyoma is a benign neoplasm of the smooth muscle arising from the arrector pili muscle. It manifests as brown to red firm papulonodules with sites of predilection...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response

Hong JY, Cho HJ, Yun KH, Lee YH, Kim SH, Baek W, Kim SK, Lee Y, Choi YL, Kwon M, Kim HS, Lee J

Purpose Even though pazopanib, a multitargeted tyrosine kinase inhibitor, has been approved for refractory soft tissue sarcoma (STS), little is known about the molecular determinants of the response to pazopanib....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report

Yeom GE, Jung YH, Kim SY, Choi SA, Kim H, Choi CW

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review

Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss

Umugire A, Lee S, Lee CJ, Choi Y, Kim T, Cho HH

Objectives. Hyaluronan synthase 1 (HAS1) is a membrane-bound protein that is abundant in the epidermis and dermis, and it is important for skin function. However, its association with hearing loss...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant

Sung MS, Lee SA, Choi BJ, Choi YC, Park HJ

We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

Kerkeni N, Kharrat M, Maazoul F, Boudabous H, M’rad R, Trabelsi M

Background and Purpose Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm

Song Y, Lee JK, Lee JO, Kwon B, Seo EJ, Suh DC

Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%–20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Kim SJ, Lee JE, Kwak HD, Kang MS, Yu SA, Seo GH, Oh SH, Chung WY

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Kim JJ, Hong YM, Yun SW, Lee KY, Yoon KL, Han MK, Kim GB, Kil HR, Song MS, Lee HD, Ha KS, Jun HO, Choi BO, Oh YM, Yu JJ, Jang GY, Lee JK, The Korean Kawasaki Disease Genetics Consortium

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report

Lee H, Oh J, Han J, Lee MJ, Park J, Baek SH, Yu R, Eun HS, Park MS, Shin JE

Gaucher disease (GD) is a rare autosomal recessive genetic disease. The symptoms and age of onset vary depending on the subtype. Type 2 GD is potentially lethal, and the mean...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing

Kang HJ, Lee HY, Kim KT, Kim JW, Lee JY, Kim SW, Kim JC, Shin IS, Kim N, Kim JM

Objective: Sudden traumatic physical injuries often cause psychological distress, which may be associated with chronic disability. Although considerable effort has been expended to identify genetic predictors of post-traumatic stress disorder...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis

Kim M, Kwon CH, Jang MH, Kim JM, Kim EH, Jeon YK, Kim SS, Choi KU, Kim IJ, Park M, Kim BH

Background: Early identification of patients with high-risk papillary thyroid microcarcinoma (PTMC) that is likely to progress has become a critical challenge. We aimed to identify somatic mutations associated with lateral...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Practical Diagnostic Approach to Myopathy

Lee JM

Hereditary myopathy is characterized by the weakness of skeletal muscles and is associated with various genetic defects. The efficiency of a genetic diagnosis has been archived with wide application of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome

Hong KT, Lim BC, Moon JS, Ko JS

Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. MPV17 is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A new type of oculocutaneous albinism with a novel OCA2 mutation

Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Elucidating molecular mechanisms of acquired resistance to BRAF inhibitors in melanoma using a microfluidic device and deep sequencing

Han J, Jung Y, Jun Y, Park S, Lee S

BRAF inhibitors (e.g., vemurafenib) are widely used to treat metastatic melanoma with the BRAF V600E mutation. The initial response is often dramatic, but treatment resistance leads to disease progression in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing

Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY

Purpose: Nontuberculous mycobacteria (NTM) is ubiquitous in the environment, but NTM lung disease (NTM-LD) is uncommon. Since exposure to NTM is inevitable, patients who develop NTM-LD are likely to have...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller

Ryu HS, Lee YJ, Lee JM

Charcot-Marie-Tooth (CMT) disease can be divided mainly into demyelination and axonopathy based on the results of the electrophysiological study. Mitofusin 2, encoded by MFN2 gene, has a crucial role in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2023 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr