2012 | Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans | PHARMACOGENOMICS |
2012 | ALK-positive anaplastic large cell lymphoma with TPM3-ALK translocation. | LEUKEMIA RESEARCH |
2012 | A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia. | LEUKEMIA RESEARCH |
2012 | Refractory anemia with ring sideroblasts associated with marked thrombocytosis harboring cytogenetic abnormality dup(2)(p15p22) treated with decitabine | LEUKEMIA & LYMPHOMA |
2012 | Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax | GENE |
2012 | Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. | CLINICAL GENETICS |
2012 | CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations
| ANNALS OF LABORATORY MEDICINE |
2012 | A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
2011 | PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
| ANNALS OF DERMATOLOGY |
2011 | Acute promyelocytic leukemia with trisomy 8 and del(9)(q22) after treatment of cervical cancer with concurrent chemoradiotherapy: a case report. | ONKOLOGIE |
2011 | Rapid identification of thrombocytopenia-associated multiple organ failure using red blood cell parameters and a volume/hemoglobin concentration cytogram
| YONSEI MEDICAL JOURNAL |
2011 | 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 | Cytochrome P450 2C19 polymorphism is associated with reduced clopidogrel response in cerebrovascular disease.
| YONSEI MEDICAL JOURNAL |
2011 | Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy.
| YONSEI MEDICAL JOURNAL |
2011 | A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies
| ACTA DERMATO-VENEREOLOGICA |
2010 | 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 | 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 | A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis
| KOREAN JOURNAL OF LABORATORY MEDICINE |
2010 | Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). | JOURNAL OF DERMATOLOGICAL SCIENCE |
2010 | Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
2010 | Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia. | CANCER GENETICS AND CYTOGENETICS |
2010 | An SRY-deleted XXY female resulting from a paternally inherited t(Y;22) | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
2010 | Down-Turner syndrome (45,X/47,XY,+21): case report and review
| KOREAN JOURNAL OF LABORATORY MEDICINE |
2010 | Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification
| KOREAN JOURNAL OF LABORATORY MEDICINE |
2010 | Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians | CYTOKINE |
2010 | 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 | 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 | Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성
| Journal of the Korean Neurological Association |
2009 | Three-way Philadelphia variant t(9;22;14)(q34;q11.2;p11) in chronic myeloid leukemia. | CANCER GENETICS AND CYTOGENETICS |
2009 | CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia | CANCER GENETICS AND CYTOGENETICS |
2009 | De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
| Korean Journal of Pediatrics |
2009 | 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 | The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
| JOURNAL OF KOREAN MEDICAL SCIENCE |
2009 | Clinical Significance of von Willebrand Factor-Cleaving Protease (ADAMTS13) Deficiency in Patients with Sepsis-Induced Disseminated Intravascular Coagulation
| INFECTION AND CHEMOTHERAPY (감염과 화학요법) |
2009 | BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia. | CANCER GENETICS AND CYTOGENETICS |
2009 | 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 | 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 | 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 | Two case reports of 1q triplication in myeloproliferative neoplasms. | CANCER GENETICS AND CYTOGENETICS |
2009 | A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
2009 | 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 | 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 | JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature | CANCER GENETICS AND CYTOGENETICS |
2009 | Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts | CANCER GENETICS AND CYTOGENETICS |
2009 | Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21 | CANCER GENETICS AND CYTOGENETICS |
2009 | 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 | Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer | CANCER GENETICS AND CYTOGENETICS |
2008 | 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 | 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 | 8번 염색체 사체성을 보인 급성단구성백혈병 1예
| KOREAN JOURNAL OF LABORATORY MEDICINE |