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Malignant transformation in a Breast Adenomyoepithelioma Caused by Amplification of c-MYC: A Common pathway to Cancer in a Rare Entity

Febres-Aldana CA, Mejia-Mejia O, Krishnamurthy K, Mesko T, Poppiti R

Breast adenomyoepitheliomas are composed of a biphasic proliferation of myoepithelial cells around small epithelial-lined spaces. Due to the rarity of adenomyoepitheliomas, the molecular data describing them are limited. Adenomyoepitheliomas are...
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Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center

Choi BG, Hwang SK, Kwon JE, Kim YH

BACKGROUND AND OBJECTIVES: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of...
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Genetic overgrowth syndrome: A single center's experience

Cheon CK, Kim YM, Yoon JY, Kim YA

PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were...
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Clinicohematological parameters and outcomes in a cohort of chronic lymphocytic leukemia patients with Deletion 17p from Pakistan

Mahmood R, Khan SA, Altaf C, Malik HS, Khadim MT

BACKGROUND: Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the...
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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

Lee SH, Song WJ

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay...
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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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Circulating Aneuploid Cells Detected in the Blood of Patients with Infectious Lung Diseases

Kim H, Cho JH, Sonn CH, Kim JW, Choi Y, Lee J, Kim J

The identification of circulating tumor cells (CTCs) is clinically important for diagnosing cancer. We have previously developed a size-based filtration platform followed by epithelial cell adhesion molecule immunofluorescence staining for...
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Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia

Yu N, Shin S, Choi JR, Kim Y, Lee KA

No abstract available.
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Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Park SY, Ryu HM, Lee SW

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16...
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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Sánchez-Casillas AL, Rivera H, Castro-Martínez AG, García-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P

No abstract available.
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A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement

Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK

No abstract available.
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Rare Incidence of ROS1 Rearrangement in Cholangiocarcinoma

Lim SM, Yoo JE, Lim KH, Meng Tai D, Cho BC, Park YN

PURPOSE: The recent discovery and characterization of an oncogenic ROS1 gene rearrangement has raised significant interest because small molecule inhibitors are effective in these tumors. The aim of this study...
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Detection of MYCN Amplification in Serum DNA Using Conventional Polymerase Chain Reaction

Ma Y, Lee JW, Park SJ, Yi ES, Choi YB, Yoo KH, Sung KW, Koo HH

Neuroblastoma (NB) is the most common extra-cranial solid tumor of childhood and is characterized by a wide range of clinical behaviors. Amplification of MYCN is a well-known poor prognostic factor...
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Prognosis of Pregnancy-Associated Gastric Cancer: An Age-, Sex-, and Stage-Matched Case-Control Study

Song MJ, Park YS, Song HJ, Park SJ, Ahn JY, Choi KD, Lee GH, Jung HY, Yook JH, Kim BS

BACKGROUND/AIMS: Pregnancy-associated gastric cancer is a rare condition. This case-control study was performed to identify the clinicopathological features and prognostic factors of pregnancy-associated gastric cancer. METHODS: All consecutive patients who presented...
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MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11)

Wang N, Wu X, Sheng G, Ma L, Wen L, Yao H, Chen S

No abstract available.
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Acute Myeloid Leukemia With MLL Rearrangement and CD4+/CD56+ Expression can be Misdiagnosed as Blastic Plasmacytoid Dendritic Cell Neoplasm: Two Case Reports

Lee JM, Kim IS, Lee JN, Park SH, Kim HH, Chang CL, Lee EY, Kim HR, Oh SH, Song SA

No abstract available.
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Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

Kim J, Lyu CJ, Shin S, Lee ST, Choi JR

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean...
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Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH

X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties...
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First Case of Diffuse Large B-Cell Lymphoma Subtype of Monomorphic Post-Transplant Lymphoproliferative Disorder With 3q27 Translocation

Kim H, Kim IS, Lee EY, Shin DH, Cho SH

No abstract available.
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Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication

Kim MJ, Ahn S, Jeong SH, Jang JH, Han JH, Choi JR, Cho SR

No abstract available.
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