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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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FusionScan: accurate prediction of fusion genes from RNA-Seq data

Kim P, Jang YE, Lee S

Identification of fusion gene is of prominent importance in cancer research field because of their potential as carcinogenic drivers. RNA sequencing (RNA-Seq) data have been the most useful source for...
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Vitamin D Improves Intestinal Barrier Function in Cirrhosis Rats by Upregulating Heme Oxygenase-1 Expression

Wang PF, Yao DH, Hu YY, Li Y

Intestinal barrier dysfunction always accompanies cirrhosis in patients with advanced liver disease and is an important contributor facilitating bacterial translocation (BT), which has been involved in the pathogenesis of cirrhosis...
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Dose Estimation Curves Following In Vitro X-ray Irradiation Using Blood From Four Healthy Korean Individuals

Jang MA, Han EA, Lee JK, Cho KH, Shin HB, Lee YK

Cytogenetic dosimetry is useful for evaluating the absorbed dose of ionizing radiation based on analysis of radiation-induced chromosomal aberrations. We created two types of in vitro dose-response calibration curves for...
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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:...
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Airway Improvement with Medium-Term Compression Duration after Right Pulmonary Artery Anterior Translocation

Jang WS, Kim JB, Kim JH, Choi HJ

Left main bronchus compression occasionally occurs in patients with cardiac disease. A 19-month-old female patient weighing 6.7 kg was admitted for recurrent pneumonia and desaturation. She had an a trial...
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Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

Min S, Seo EJ, Seol CA, Kim GH, Lee BH, Lee DH

Langer-Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who...
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Rifaximin and Propranolol Combination Therapy Is More Effective than Propranolol Monotherapy for the Reduction of Portal Pressure: An Open Randomized Controlled Pilot Study

Lim YL, Kim MY, Jang YO, Baik SK, Kwon SO

BACKGROUND/AIMS: Non-selective beta blockers (NSBBs) are currently the only accepted regimen for preventing portal hypertension (PHT)-related complications. However, the effect of NSBBs is insufficient in many cases. Bacterial translocation (BT)...
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Ankylosing spondylitis associated with balanced reciprocal X-1 translocation

Kim YH, Lee JO

A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came...
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Molecular Testing of Lymphoproliferative Disorders: Current Status and Perspectives

Jeon YK, Yoon SO, Paik JH, Kim YA, Shin BK, Kim HJ, Cha HJ, Kim JE, Huh J, Ko YH, The Hematopathology Study Group of the Korean Society of Pathologists, The Molecular Pathology Study Group of Korean Society of Pathologists

Molecular pathologic testing plays an important role for the diagnosis, prognostication and decision of treatment strategy in lymphoproliferative disease. Here, we briefly review the molecular tests currently used for lymphoproliferative...
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Xp11.2 translocation renal cell carcinoma in the autosomal dominant polycystic kidney disease patient with preserved renal function

Huh H, Jo HA, Yi Y, Kim SH, Moon KC, Ahn C, Park HC

No abstract available.
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A Case of Pediatric Precursor B-cell Acute Lymphoblastic Leukemia Associated with Translocations (14;18)(q32;q21) and (8;9)(q24;p13)

Kim HJ, Kim H, Koh KN, Im HJ, Seo JJ, Seo EJ, Park CJ

Precursor B-cell acute lymphoblastic leukemia (ALL), which is the most common subtype of pediatric acute leukemia, generally has a good prognosis. However, the prognosis also depends on the genetic abnormalities...
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Aortic Root Translocation with Arterial Switch for Transposition of the Great Arteries or Double Outlet Right Ventricle with Ventricular Septal Defect and Pulmonary Stenosis

Lee HP, Bang JH, Baek JS, Goo HW, Park JJ, Kim YH

Double outlet right ventricle (DORV) and transposition of the great arteries (TGA) with ventricular septal defect (VSD) and pulmonary stenosis (PS) are complex heart diseases, the treatment of which remains...
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Systematic Classification of Mixed-Lineage Leukemia Fusion Partners Predicts Additional Cancer Pathways

Marschalek R

Chromosomal translocations of the human mixed-lineage leukemia (MLL) gene have been analyzed for more than 20 yr at the molecular level. So far, we have collected about 80 direct MLL...
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Diaphragm Translocation as Surgical Treatment for Agenesis of the Right Lung and Secondary Tracheal Compression

Kim DH, Choi SH

A 12-month-old boy was diagnosed with agenesis of the right lung. Mediastinal deviation progressed to the diseased side as the patient matured; therefore, tracheal distortion developed. As a result, tracheal...
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Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia

Park GC, Cho EH, Kang SH, Jang SJ, Moon DS, Park G

One of the most frequent structural chromosomal anomaly is t(8;21)(q22;q22) that occurs in approximately 5-15% of all acute myeloid leukemia (AML). However, t(3;21)(p21;q22) and t(2;11)(q31;p15) translocations are rarely reported in...
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SEC31A-ALK Fusion Gene in Lung Adenocarcinoma

Kim RN, Choi YL, Lee MS, Lira ME, Mao M, Mann D, Stahl J, Licon A, Choi SJ, Vrancken M, Han J, Wlodarska , Kim J

Anaplastic lymphoma kinase (ALK) fusion is a common mechanism underlying pathogenesis of non-small cell lung carcinoma (NSCLC) where these rearrangements represent important diagnostic and therapeutic targets. In this study, we...
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Autosomal Translocation Patient Who Experienced Premature Menopause: A Case Report

Kim TH, Kim Y, Jeong DW, Lee EG, Jeon DS, Kim JM

Premature ovarian failure (POF) is a condition in which the ovarian functions of hormone production and oocyte development become impaired before the typical age for menopause. POF and early menopause...
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A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia

Kim WS, Park G, Jang SJ, Moon DS, Kang SH

Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by a reciprocal t(9;22)(q34;q11) translocation. Variant Philadelphia chromosomes, found in 5-10% of CML cases,...
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Clinicopathological features of Xp11.2 translocation renal cell carcinoma

Lim B, You D, Jeong IG, Kwon T, Hong S, Song C, Cho YM, Hong B, Hong JH, Ahn H, Kim CS

PURPOSE: Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we...
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