2018-08 |
A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray |
ANNALS OF HEMATOLOGY
|
2018-07 |
The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy |
FRONTIERS IN NEUROLOGY
|
2018-03 |
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy |
EPILEPSY RESEARCH
|
2018-02 |
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing |
BMC MEDICAL GENOMICS
|
2018-01 |
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development |
ANNALS OF LABORATORY MEDICINE
|
2018-01 |
Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population |
ANNALS OF LABORATORY MEDICINE
|
2017-12 |
Mowat-Wilson syndrome presenting with fever-associated seizures. |
EPILEPTIC DISORDERS
|
2017-12 |
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome |
JAMA OPHTHALMOLOGY
|
2017-09 |
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis |
MOLECULAR VISION
|
2017-09 |
Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
2017-09 |
Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment |
PSYCHONEUROENDOCRINOLOGY
|
2017-07 |
Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia |
ANNALS OF LABORATORY MEDICINE
|
2017-07 |
Whole genome and transcriptome analysis reveal MALDI-TOF MS and SDS-PAGE have limited performance for the detection of the key outer membrane protein in carbapenem-resistant Klebsiella pneumoniae isolates |
ONCOTARGET
|
2017-06 |
The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma |
SCIENTIFIC REPORTS
|
2017-06 |
A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization |
PLOS ONE
|
2017-05 |
Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results |
ANNALS OF SURGICAL TREATMENT AND RESEARCH
|
2017-05 |
Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors |
ANNALS OF LABORATORY MEDICINE
|
2017-05 |
Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing |
ONCOTARGET
|
2017-05 |
First report of blaOXA-499 as a carbapenemase 1 gene from Acinetobacter pittii |
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY
|
2017-04 |
Panel strain of Klebsiella pneumoniae for beta-lactam antibiotic evaluation: their phenotypic and genotypic characterization |
PeerJ
|
2017-03 |
A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma |
ANNALS OF LABORATORY MEDICINE
|
2017-03 |
Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization |
PLOS ONE
|
2017-03 |
Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia |
ANNALS OF LABORATORY MEDICINE
|
2017-02 |
Molecular epidemiology and resistome analysis of multidrug-resistant ST11 Klebsiella pneumoniae strain containing multiple copies of extended-spectrum β-lactamase genes using whole-genome sequencing |
NEW MICROBIOLOGICA
|
2016-09 |
Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia |
ANNALS OF LABORATORY MEDICINE
|
2016-08 |
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants |
BREAST CANCER RESEARCH AND TREATMENT
|
2016-07 |
t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia |
ANNALS OF LABORATORY MEDICINE
|
2016-05 |
Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion |
ANNALS OF LABORATORY MEDICINE
|
2016-05 |
Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015 |
ANNALS OF LABORATORY MEDICINE
|
2016-05 |
Development and comparison of warfarin dosing algorithms for stroke patients |
YONSEI MEDICAL JOURNAL
|
2016-05 |
Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication |
ANNALS OF LABORATORY MEDICINE
|
2016-03 |
Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea |
Infection and Chemotherapy
|
2016-03 |
A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806) |
LUNG CANCER
|
2016-03 |
Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea |
ANNALS OF LABORATORY MEDICINE
|
2016-01 |
Bone Marrow Chimerism Detection Using Next Generation Sequencing Based on Single Nucleotide Polymorphisms Following Liver Transplantation: Comparison With Short Tandem Repeat-PCR |
ANNALS OF LABORATORY MEDICINE
|
2015-10 |
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement |
JOURNAL OF MEDICAL GENETICS
|
2015-09 |
Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. |
ANNALS OF LABORATORY MEDICINE
|
2015-08 |
NOTCH2 missplicing can occur in relation to apoptosis |
BLOOD
|
2015-07 |
Isodicentric Chromosome 15 Syndrome in a Korean Patient With Caf?-au-lait Spots |
ANNALS OF LABORATORY MEDICINE
|
2015-05 |
천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예 |
Allergy Asthma & Respiratory Disease
|
2015-05 |
Clinical Implication of Highly Sensitive Detection of the BRAFV600E Mutation in Fine-Needle Aspirations According to the Thyroid Bethesda System in Patients With Conventional Papillary Thyroid Carcinoma |
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY
|
2015-02 |
MicroRNA-30d and microRNA-181a regulate HOXA11 expression in the uterosacral ligaments and are overexpressed in pelvic organ prolapse |
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
|
2014-09 |
Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma |
Blood Research
|
2014-07 |
Complete genome sequence of the bacteriophage YMC/09/04/R1988 MRSA BP: A lytic phage from a methicillin-resistant Staphylococcus aureus isolate |
FEMS MICROBIOLOGY LETTERS
|
2014-07 |
Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency |
ANNALS OF LABORATORY MEDICINE
|
2013-12 |
A Comparative Study of the Diagnostic Performance of the GENEDIA Avellino Corneal Dystrophy Mutation Detection Kit and Screening Master Mix and a Direct Sequencing Method to Detect Mutations in the TGFB1 Gene |
Journal of Laboratory Medicine and Quality Assurance
|
2013-11 |
The MLL recombinome of acute leukemias in 2013 |
LEUKEMIA
|
2013-11 |
Study of peripheral BRAFV600E mutation as a possible novel marker for papillary thyroid carcinomas |
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
|
2013-08 |
Application of BRAF, NRAS, KRAS mutations as markers for the detection of papillary thyroid cancer from FNAB specimens by pyrosequencing analysis |
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
|
2013-06 |
A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis |
BLOOD COAGULATION & FIBRINOLYSIS
|
2013-05 |
Proper Indication of BRAFV600E Mutation Testing in Fine-Needle Aspirates of Thyroid Nodules |
PLOS ONE
|
2012-11 |
Comparison Study of the Rates of Manual Peripheral Blood Smear Review From 3 Automated Hematology Analyzers, Unicel DxH 800, ADVIA 2120i, and XE 2100, Using International Consensus Group Guidelines |
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
|
2012-08 |
정상 산모들과 임신중독증 산모들의 혈청 중 네프린 발현 빈도의 차이: 예비결과 보고 |
Korean Journal of Obstetrics and Gynecology
|
2012-08 |
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect |
CLINICAL GENETICS
|
2012-07 |
Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series |
ANNALS OF HEMATOLOGY
|
2012-07 |
BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: Potential value of real-time PCR |
ANNALS OF CLINICAL AND LABORATORY SCIENCE
|
2012-05 |
Fibrinogen residue gamma Ala341 is necessary for calcium binding and 'A-a' interactions |
THROMBOSIS AND HAEMOSTASIS
|
2012-05 |
A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia |
LEUKEMIA RESEARCH
|
2012-03 |
DELTA NEUTROPHIL INDEX: A PROMISING DIAGNOSTIC AND PROGNOSTIC MARKER FOR SEPSIS |
SHOCK
|
2012-01 |
A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A |
ANNALS OF CLINICAL AND LABORATORY SCIENCE
|
2012-01 |
Submicroscopic Deletion of FGFR1 Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with ZMYM2-FGFR1 Rearrangements: A Case Study |
ACTA HAEMATOLOGICA
|
2012-01 |
CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations |
ANNALS OF LABORATORY MEDICINE
|
2011-12 |
Pharmacokinetic Comparison of Sustained- and Immediate-Release Oral Formulations of Cilostazol in Healthy Korean Subjects: A Randomized, Open-Label, 3-Part, Sequential, 2-Period, Crossover, Single-Dose, Food-Effect, and Multiple-Dose Study |
CLINICAL THERAPEUTICS
|
2011-12 |
Osteolytic mandible presenting as an initial manifestation of an adult acute lymphoblastic leukaemia |
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
|
2011-10 |
Acute Promyelocytic Leukemia With Complex Translocation t(5;17;15)(q35;q21;q22): Case Report and Review of the Literature |
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
|
2011-10 |
Letter to the Editor: Diagnostic Standardization of Leukemia Fusion Gene Detection System using Multiplex Reverse Transcriptase-polymerase Chain Reaction in Korea |
JOURNAL OF KOREAN MEDICAL SCIENCE
|
2011-09 |
Rapid Identification of Thrombocytopenia-Associated Multiple Organ Failure Using Red Blood Cell Parameters and a Volume/Hemoglobin Concentration Cytogram |
YONSEI MEDICAL JOURNAL
|
2011-07 |
Acute Promyelocytic Leukemia with Trisomy 8 and del(9)(q22) after Treatment of Cervical Cancer with Concurrent Chemoradiotherapy: A Case Report |
ONKOLOGIE
|
2011-05 |
Alteration of Elastin Metabolism in Women With Pelvic Organ Prolapse |
JOURNAL OF UROLOGY
|
2011-03 |
Diagnostic Value of BRAF(V600E) Mutation Analysis of Thyroid Nodules According to Ultrasonographic Features and the Time of Aspiration |
ANNALS OF SURGICAL ONCOLOGY
|
2011-01 |
Case Report: A Heparin Binding Site Arg79Cys Missense Mutation in the SERPINC1 Gene in a Korean Patient with Hereditary Antithrombin Deficiency |
ANNALS OF CLINICAL AND LABORATORY SCIENCE
|
2011-01 |
Case Report: A Novel Mutation in the MECP2 Gene in a Korean Patient with Rett Syndrome |
ANNALS OF CLINICAL AND LABORATORY SCIENCE
|
2011-01 |
A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies |
ACTA DERMATO-VENEREOLOGICA
|
2010-10 |
Prognostic significance of trisomy 6 in an adult acute myeloid leukemia with t(8;21) |
Cancer Genetics and Cytogenetics
|
2010-09 |
Association between Survivor Motor Neuron 2 (SMN2) Gene Homozygous Deletion and Sporadic Lower Motor Neuron Disease in a Korean Population |
Annals of Clinical and Laboratory Science
|
2010-09 |
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2) |
Journal of Dermatological Science
|
2010-09 |
Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia |
Cancer Genetics and Cytogenetics
|
2010-09 |
Identification of Adenovirus, Influenza Virus, Parainfluenza Virus, and Respiratory Syncytial Virus by Two Kinds of Multiplex Polymerase Chain Reaction (PCR) and a Shell Vial Culture in Pediatric Patients with Viral Pneumonia |
YONSEI MEDICAL JOURNAL
|
2010-08 |
Leukemic transformation associated with massive hyperdiploidy in myelodysplastic syndrome (MDS) with der(1;7)(q10;p10): A novel case study |
Leukemia Research
|
2010-08 |
A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis |
KOREAN JOURNAL OF LABORATORY MEDICINE
|
2010-08 |
An SRY-Deleted XXY Female Resulting from a Paternally Inherited t(Y;22) |
Annals of Clinical and Laboratory Science
|
2010-07 |
Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript |
Cancer Genetics and Cytogenetics
|
2010-06 |
Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia |
KOREAN JOURNAL OF LABORATORY MEDICINE
|
2010-06 |
Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years |
Annals of Clinical and Laboratory Science
|
2010-06 |
Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature |
Cancer Genetics and Cytogenetics
|
2010-05 |
A novel t(1;12)(q21;q24) in a patient with myelodysplastic syndrome |
Annals of Hematology
|
2010-04 |
Analysis of fluorescence in situ hybridization, mtDNA quantification, and mtDNA sequence for the detection of early bladder cancer |
Cancer Genetics and Cytogenetics
|
2010-04 |
Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAFV600E mutation in FNAB samples of thyroid nodules in BRAF V600E mutation-prevalent area |
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
|
2010-03 |
Short Report: Automated Detection of Malaria-Associated Pseudoeosinophilia and Abnormal WBC Scattergram by the Sysmex XE-2100 Hematology Analyzer: A Clinical Study with 1,801 Patients and Real-Time Quantitative PCR Analysis in Vivax Malaria-Endemic Area |
American Journal of Tropical Medicine and Hygiene
|
2010-02 |
Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23) |
Cancer Genetics and Cytogenetics
|
2010-01 |
Comparisons of Three Automated Systems for Genomic DNA Extraction in a Clinical Diagnostic Laboratory |
YONSEI MEDICAL JOURNAL
|
2009-12 |
Association of BRAFV600E mutation with poor clinical prognostic factors and US features in korean patients with papillary thyroid microcarcinoma |
Radiology
|
2009-12 |
A novel three-way t(7;21;8)(q11.2;q22;q22) in a patient with acute myeloid leukemia |
Cancer Genetics and Cytogenetics
|
2009-11 |
CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia |
Cancer Genetics and Cytogenetics
|
2009-11 |
The Role of BRAFV600E Mutation and Ultrasonography for the Surgical Management of a Thyroid Nodule Suspicious for Papillary Thyroid Carcinoma on Cytology |
Annals Of Surgical Oncology
|