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Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital

Park JH, Kang MG, Kim HR, Lee YE, Lee JH, Choi HJ, Shin JH, Shin MG

Background Chromosomal analysis is essential for the diagnosis and risk stratification of all leukemia patients. Not surprisingly, racial differences in chromosomal aberrations (CA) in hematological malignancies could be found, and CA...
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The Implication of Cytogenetic Alterations in Pancreatic Ductal Adenocarcinoma and Intraductal Papillary Mucinous Neoplasm Identified by Fluorescence In Situ Hybridization and Their Potential Diagnostic Utility

Lim CS, Im K, Lee DS, Kwon W, Kim JR, Han Y, Kim SW, Jang JY

Background/Aims: We investigated chromosomal aberrations in patients with pancreatic ductal adenocarcinoma (PDAC) and intraductal papillary mucinous neoplasm (IPMN) by fluorescence in situ hybridization (FISH) to identify cytogenetic changes and molecular...
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Trisomy 12p Syndrome Presenting with Fetal Growth Restriction and Polyhydramnios

Park JE, Ryu KJ, Nam SH, Cho GJ, Hong SC, Oh MJ, Kim HJ, Ahn KH

A 39-year-old nulliparous woman was referred at 36+6 weeks gestational age, and a prenatal fetal ultrasonography examination found fetal growth restriction (2,190 g
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Association between Ultrasonography Findings and Abnormal Karyotypes in Early Pregnancy Loss

Pae J, Park J, Kim S, Kim R, Wie J, Ko HS, Park IY, Shin JC

Objective: Chromosomal abnormality in the fetus is a major cause of early pregnancy loss (EPL). It is considered that maternal age is a risk factor of chromosomal abnormality in the...
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Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI...
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Male Infertility Associated with a Supernumerary Marker Chromosome

Song SH, Park SH, Shin E, Jung JH, Shim SH, Kim DS

A marker chromosome (mar) is a structurally abnormal chromosome in which no part can be identified. The significance of a marker varies, depending on the material contained within the marker....
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Prenatal diagnosis of aberrant right subclavian artery in an unselected population

Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, Park BK

PURPOSE: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other...
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Comparison of Ocular Aberration and Clinical Outcome between Different Aspheric Intraocular Lenses in Both Eyes

Kang MK, Yoo YS, Chung SH

PURPOSE: We compared the ocular aberration and clinical outcome between different aspheric intraocular lenses (IOL) in both eyes. METHODS: This prospective randomized controlled study was comprised of patients with bilateral cataract...
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a...
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Effects of Continuous Curvilinear Capsulorhexis, Intraocular Lens Decentration and Tilt on Clinical Outcomes

Eo DR, Lim DH, Hyun J, Lee JY, Lim HW, Oh JE, Chung ES, Chung TY

PURPOSE: To evaluate the effects of continuous curvilinear capsulorhexis, intraocular lens (IOL) decentration and tilt on postoperative clinical outcomes after cataract surgery. METHODS: We reviewed 62 eyes of 52 patients who...
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Clinical Prognostic Factors in 86 Chinese Patients with Primary Myelodysplastic Syndromes and Trisomy 8: A Single Institution Experience

Yue QF, Chen L, She XM, Hu B, Hu Y, Zou P, Liu XY

PURPOSE: The objective was to determine the characteristics and prognostic factors of 86 Chinese patients with trisomy 8 aberrations and compare the prognostic value of International Prognostic System (IPSS) and...
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Inadvertent Transmission of a Donor's Constitutional Chromosome Abnormality after Hematopoietic Stem Cell Transplantation

Yun J, Jo HH, Jeon BR, Lee YK, Kim CK, Park SK, Hong DS

A pre-transplant screening work-up of donors for allogeneic hematopoietic stem cell transplantation (HSCT) is essential. Inadvertent transmission of malignancy from donors with subclinical diseases to recipients has been reported recently...
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Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

Kim JH, Lee GH, Cha DH, Cho EH, Jung YW

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and...
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Maternal antimullerian hormone as a predictor of fetal aneuploidy occurring in an early pregnancy loss

Shim SH, Ha HI, Jung YW, Shim SS, Cho YK, Kim JY, Lee KJ, Cha DH, Kim SH, Park HJ

OBJECTIVE: The purpose of the study was to examine the relationship between the parameter representing ovarian reserve and the fetal aneuploidy in early spontaneous miscarriage. METHODS: A multicenter retrospective cohort study...
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Screening ultrasonography in pregnancy

Jeong BD, Won HS

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester,...
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Comparison of Corneal Higher-Order Aberrations Measured with Two Instruments Using Scheimpflug Camera System

Choi YJ, Kang NH, Jun RM

PURPOSE: To compare the corneal higher-order aberrations (HOAs) of normal young subjects using Galilei(TM) G4 (Zeimer, Port, Switzerland) and Pentacam(R) (Oculus Inc., Wetzlar, Germany). METHODS: Corneal HOAs were measured using Galilei(TM)...
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MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report

Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH

Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with...
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Analysis of Internal Optical Aberrations in Eyes with Different Types of Cataract

Han JY, Eom YS, Rhim JW, Kang SY, Kim HM, Song JS

PURPOSE: The present study investigates the patterns of internal optical aberrations in eyes with different types of cataract. METHODS: Eighty eyes of 70 cataract patients were included in the present study....
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Mitochondrial DNA Aberrations and Pathophysiological Implications in Hematopoietic Diseases, Chronic Inflammatory Diseases, and Cancers

Kim HR, Won SJ, Fabian C, Kang MG, Szardenings M, Shin MG

Mitochondria are important intracellular organelles that produce energy for cellular development, differentiation, and growth. Mitochondrial DNA (mtDNA) presents a 10- to 20-fold higher susceptibility to genetic mutations owing to the...
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Relationship between Dry Eye Parameters and Anterior Corneal Higher-Order Aberrations Measured by Two Different Instruments

Cho AR, Kang NH, Jun RM

PURPOSE: To compare the corneal first surface higher-order aberrations (HOAs) of normal subjects and patients with dry eye using KR-1W(R) (Topcon Corp., Tokyo, Japan) and Pentacam(R) HR (Oculus Inc., Dutenhofen,...
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