| 2013-05 |
A Case of Late-Onset Li-Fraumeni?like Syndrome with Unilateral Breast Cancer |
ANNALS OF LABORATORY MEDICINE
|
| 2013-01 |
A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss |
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
|
| 2012-11 |
Refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) harboring cytogenetic abnormality |
LEUKEMIA & LYMPHOMA
|
| 2012-08 |
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect |
CLINICAL GENETICS
|
| 2012-07 |
ALK-positive Anaplastic Large Cell Lymphoma with TPM3-ALK Translocation |
LEUKEMIA RESEARCH
|
| 2012-06 |
Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans |
PHARMACOGENOMICS
|
| 2012-05 |
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax |
GENE
|
| 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 |
CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations |
ANNALS OF LABORATORY MEDICINE
|
| 2012-01 |
Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients |
YONSEI MEDICAL JOURNAL
|
| 2011-09 |
Rapid Identification of Thrombocytopenia-Associated Multiple Organ Failure Using Red Blood Cell Parameters and a Volume/Hemoglobin Concentration Cytogram |
YONSEI MEDICAL JOURNAL
|
| 2011-09 |
Cytochrome P450 2C19 Polymorphism is Associated with Reduced Clopidogrel Response in Cerebrovascular Disease |
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 |
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD |
ANNALS OF DERMATOLOGY
|
| 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 |
Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy |
YONSEI MEDICAL JOURNAL
|
| 2011-01 |
A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies |
ACTA DERMATO-VENEREOLOGICA
|
| 2010-12 |
Cytogenetic features of 5q deletion and 5q-syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization |
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
|
| 2010-08 |
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 |
Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians |
Cytokine
|
| 2010-06 |
Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years |
Annals of Clinical and Laboratory Science
|
| 2010-04 |
Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review |
KOREAN JOURNAL OF LABORATORY MEDICINE
|
| 2010-03 |
Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification |
KOREAN JOURNAL OF LABORATORY MEDICINE
|
| 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
|
| 2010-02 |
Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성 |
Journal Of The Korean Neurological Association(대한신경과학회지)
|
| 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
|
| 2009-10 |
Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics |
Cancer Genetics and Cytogenetics
|
| 2009-08 |
The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis |
Journal Of Korean Medical Science
|
| 2009-06 |
Two case reports of 1q triplication in myeloproliferative neoplasms |
Cancer Genetics and Cytogenetics
|
| 2009-05 |
Three-way Philadelphia variant t(9;22;14)(q34;q11.2;p11) in chronic myeloid leukemia. |
Cancer Genetics and Cytogenetics
|
| 2009-05 |
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence |
Korean Journal of Pediatrics
|
| 2009-05 |
Therapy-related acute lymphoblastic leukemia with t(9;22)(q34;q11.2): a case study and review of the literature |
Cancer Genetics and Cytogenetics
|
| 2009-04 |
Clinical Significance of von Willebrand Factor-Cleaving Protease (ADAMTS13) Deficiency in Patients with Sepsis-Induced Disseminated Intravascular Coagulation |
Infection and Chemotherapy(감염과화학요법)
|
| 2009-03 |
BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia |
Cancer Genetics and Cytogenetics
|
| 2009-03 |
A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature |
Cancer Genetics and Cytogenetics
|
| 2009-03 |
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits |
Cancer Genetics and Cytogenetics
|
| 2009-03 |
Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA) |
Thrombosis Research
|
| 2009-02 |
A Novel PHEX Mutation in a Korean Patient with Sporadic Hypophosphatemic Rickets |
Annals Of Clinical And Laboratory Science
|
| 2009-02 |
JAK2 V617F/C618R mutation in a patient with polycythemia vera: A case study and review of the literature |
Cancer Genetics and Cytogenetics
|
| 2009-01 |
Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia |
Cancer Genetics and Cytogenetics
|
| 2009-01 |
Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts |
Cancer Genetics and Cytogenetics
|
| 2009-01 |
Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21 |
Cancer Genetics and Cytogenetics
|
| 2009-01 |
Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis |
Cancer Genetics and Cytogenetics
|
| 2009-01 |
Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer |
Cancer Genetics and Cytogenetics
|
| 2008-11 |
MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities |
Cancer Genetics And Cytogenetics
|
| 2008-11 |
Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality |
Cancer Genetics And Cytogenetics
|
| 2008-10 |
Cataloging coding sequence variations in human genome databases |
PLoS One
|
| 2008-10 |
듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가 |
Korean Journal Of Laboratory Medicine
|
| 2008-09 |
Complex t(8;1.9;21)(q22;p13;q22) as a sole abnormality in a patient with de novo acute myeloid leukemia |
Cancer Genetics And Cytogenetics
|
| 2008-08 |
8번 염색체 사체성을 보인 급성단구성백혈병 1예 |
Korean Journal Of Laboratory Medicine
|
| 2008-08 |
분자유전학적 방법으로 확진된 Scedosporium apiospermum 각막염 1예 |
Korean Journal Of Laboratory Medicine
|
| 2008-08 |
Preceding orbital granulocytic sarcoma in an adult patient with acute myelogenous leukemia with t(8;21): a case study and review of the literature |
Cancer Genetics And Cytogenetics
|
| 2008-05 |
Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis |
Cancer Genetics And Cytogenetics
|
| 2008-04 |
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer |
Cancer Genetics And Cytogenetics
|
| 2008-03 |
Functional haplotype Frequencies of the Interleukin-1B Promoter in the Korean Population |
Genomics & Informatics
|
| 2008-01 |
Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion |
Pediatric Neurology
|
| 2008-01 |
Rare translocations involving chromosome band 8p11 in myeloid neoplasms |
Cancer Genetics And Cytogenetics
|
| 2008-01 |
Linear Relationship between ADAMTS13 Activity and Platelet Dynamics Even Before Severe Thrombocytopenia |
Annals Of Clinical And Laboratory Science
|
| 2008-01 |
Acute erythroleukemia with der(1;7)(q10;p10) as a sole acquired abnormality after treatment with azathioprine |
Cancer Genetics And Cytogenetics
|
| 2008-01 |
A novel de novo mutation in the serine-threonine kinase STKII gene in a Korean patient with Peutz-Jeghers syndrome |
Bmc Medical Genetics
|
| 2007-12 |
VERSANT Hepatitis B Virus DNA 3.0 검사와 Digene Hybrid Capture II Hepatitis B Virus DNA 검사의 비교 및 B형 간염 임상상과의 관련성 |
대한진단검사의학회지(The Korean Journal of Laboratory Medicine)
|
| 2007-12 |
A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia |
CANCER GENETICS AND CYTOGENETICS
|
| 2007-09 |
t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma |
CANCER GENETICS AND CYTOGENETICS
|
| 2007-01 |
Effectiveness of in silico tagSNP selection method: virtual analysis of the genotype of pharmacogenetic genes |
PHARMACOGENOMICS
|
| 2007-01 |
Distinct linkage disequilibrium (LD) runs of single nucleotide polymorphisms and microsatellite markers; implications for use of mixed marker haplotypes in LD-based mapping |
JOURNAL OF KOREAN MEDICAL SCIENCE
|
| 2007-01 |
Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer |
CYTOKINE
|
| 2007-01 |
Association between a polymorphism in the lymphotoxin- |
HEADACHE
|
| 2006-12 |
Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population |
EXPERIMENTAL AND MOLECULAR MEDICINE
|
| 2005-12 |
TP53BP2 locus is associated with gastric cancer susceptibility |
INTERNATIONAL JOURNAL OF CANCER
|
| 2005-04 |
클론성 염색체이상을 보인 Epstein-Barr 바이러스 연관성 혈구탐식성림프조직구증 1예 |
대한진단검사의학회지
|
| 2004-12 |
복부전산화단층촬영에서 악성림프종 유사 소견을 보인 골수섬유증 2예: 광범위한 림프절병을 동반한 전신성홍반성낭창 연관성 자가면역성골수섬유증 및 비장내 국소성 골수외조혈을 보인 만성원발성골수섬유증 |
대한진단검사의학회지
|
| 2004-12 |
Efficacy of imatinib mesylate (STI571) in chronic neutrophilic leukemia with t(15;19): Case report |
AMERICAN JOURNAL OF HEMATOLOGY
|
| 2004-05 |
Novel interleukin 1 beta polymorphism increased the risk of gastric cancer in a Korean population |
UROLOGIA INTERNATIONALIS
|
| 2004-02 |
CD34음성 비아세포성 성숙골수계 세포에서 비정상적인 N-CAM (CD56)항원 발현을 보인 만성골수성백혈병 1예 |
대한진단검사의학회지
|
| 2003-12 |
Haplotype structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population |
CLINICAL CHEMISTRY
|
| 2003-12 |
EM 알고리듬을 이용한 단일염기변이(SNP; SINGLE NUCLEOTIDE POLYMORPHISM)군의 일배체형(HAPLOTYPE)비율 추정 |
응용통계연구
|
| 2002-10 |
한국인 급성골수구성백혈 및 골수이형성증후군 환자에서 glutathione S-transferase 유전자 결손분석 |
대한혈액학회지
|
| 2002-06 |
비타민 B12 결핍 거대적아구성 빈혈 진단을 위한 Methylmalonic Acid 검사의 유용성 |
대한진단검사의학회지(Korean Journal Of Legal Medicine)
|
| 2002-05 |
Complete Sequencing of a Genetic Polymorphim in N-Acetyltransferase 2 (NAT2) in the Korean Population. |
CLINICAL CHEMISTRY
|
| 2002-02 |
DNA Topoisomerase II 억제제 치료 후 발생한 11q23 재배열 |
대한진단검사의학회지(Korean Journal Of Legal Medicine)
|
| 2002-02 |
DNA Topoisomerase II 억재제 치료 후 발생한 11q23 재배열. |
대한진단검사의학회지(Korean Journal Of Legal Medicine)
|
| 2002-01 |
A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia |
JOURNAL OF HUMAN GENETICS
|
| 2001-12 |
Tandem Translocation of Chromosomes 22 and 15 with Two Preserved Satellite Stalk Regions and Deletion 22q13.3-qter. |
CONNECTOR SPECIFIER
|
| 2001-12 |
진단유전학분과 신빙도조사 결과보고 (2000). |
임상검사와 정도관리
|
| 2001-10 |
분류 불능형 면역결핍증에서 발생한 lymphoid interstitial pneumonia의 clonality |
대한소아혈액종양학회지(Korean J Pediatr Hematol-Oncol)
|
| 2001-08 |
후천성 재생불량성빈혈의 세포유전학적 소견. |
대한진단검사의학회지(Korean Journal Of Legal Medicine)
|
| 2001-05 |
표면 면역글로불린 양성인FAB L1형 급성림프아구성백혈병 1례. |
대한혈액학회지
|
| 2001-03 |
평균 적혈구 혈색소 농도를 이용한 유전성구상적혈구증과 혈관내 용혈의 감별 진단. |
소아과
|
| 2001-02 |
급성백혈병 환자에서 거핵구 이형성과 염색체 3q 이상과의 관련성 분석. |
대한진단검사의학회지(Korean Journal Of Legal Medicine)
|