- Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital
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Park JH, Kang MG, Kim HR, Lee YE, Lee JH, Choi HJ, Shin JH, Shin MG
- KMID: 2509962
- Blood Res.
- 2020 Dec;55(4):225-245.
- doi: 10.5045/br.2020.2020255
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
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Lim CS, Im K, Lee DS, Kwon W, Kim JR, Han Y, Kim SW, Jang JY
- KMID: 2504208
- Gut Liver.
- 2020 Jul;14(4):509-520.
- doi: 10.5009/gnl19087
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
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Park JE, Ryu KJ, Nam SH, Cho GJ, Hong SC, Oh MJ, Kim HJ, Ahn KH
- KMID: 2503954
- Perinatology.
- 2020 Jun;31(2):85-89.
- doi: 10.14734/PN.2020.31.2.85
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
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Pae J, Park J, Kim S, Kim R, Wie J, Ko HS, Park IY, Shin JC
- KMID: 2503951
- Perinatology.
- 2020 Jun;31(2):67-73.
- doi: 10.14734/PN.2020.31.2.67
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
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Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA
- KMID: 2451620
- J Genet Med.
- 2019 Jun;16(1):10-14.
- doi: 10.5734/JGM.2019.16.1.10
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
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Song SH, Park SH, Shin E, Jung JH, Shim SH, Kim DS
- KMID: 2398570
- World J Mens Health.
- 2017 Dec;35(3):205-208.
- doi: 10.5534/wjmh.17015
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
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Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, Park BK
- KMID: 2384802
- Ultrasonography.
- 2017 Jul;36(3):278-283.
- doi: 10.14366/usg.16046
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
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Kang MK, Yoo YS, Chung SH
- KMID: 2378623
- J Korean Ophthalmol Soc.
- 2017 May;58(5):530-538.
- doi: 10.3341/jkos.2017.58.5.530
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
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Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D
- KMID: 2369026
- J Genet Med.
- 2016 Dec;13(2):95-98.
- doi: 10.5734/JGM.2016.13.2.95
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
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Eo DR, Lim DH, Hyun J, Lee JY, Lim HW, Oh JE, Chung ES, Chung TY
- KMID: 2212790
- J Korean Ophthalmol Soc.
- 2016 Apr;57(4):575-581.
- doi: 10.3341/jkos.2016.57.4.575
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
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Yue QF, Chen L, She XM, Hu B, Hu Y, Zou P, Liu XY
- KMID: 2374040
- Yonsei Med J.
- 2016 Mar;57(2):358-364.
- doi: 10.3349/ymj.2016.57.2.358
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
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Yun J, Jo HH, Jeon BR, Lee YK, Kim CK, Park SK, Hong DS
- KMID: 2317775
- Soonchunhyang Med Sci.
- 2015 Dec;21(2):137-141.
- doi: 10.0000/sms.2015.21.2.137
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
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Kim JH, Lee GH, Cha DH, Cho EH, Jung YW
- KMID: 2149855
- J Genet Med.
- 2015 Dec;12(2):118-122.
- doi: 10.5734/JGM.2015.12.2.118
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
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Shim SH, Ha HI, Jung YW, Shim SS, Cho YK, Kim JY, Lee KJ, Cha DH, Kim SH, Park HJ
- KMID: 2314066
- Obstet Gynecol Sci.
- 2015 Nov;58(6):494-500.
- doi: 10.5468/ogs.2015.58.6.494
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
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Jeong BD, Won HS
- KMID: 2195129
- J Korean Med Assoc.
- 2015 Nov;58(11):1003-1010.
- doi: 10.5124/jkma.2015.58.11.1003
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
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Choi YJ, Kang NH, Jun RM
- KMID: 2214407
- J Korean Ophthalmol Soc.
- 2015 Oct;56(10):1497-1504.
- doi: 10.3341/jkos.2015.56.10.1497
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
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Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH
- KMID: 2165653
- Ann Rehabil Med.
- 2015 Jun;39(3):482-487.
- doi: 10.5535/arm.2015.39.3.482
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
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Han JY, Eom YS, Rhim JW, Kang SY, Kim HM, Song JS
- KMID: 2215703
- J Korean Ophthalmol Soc.
- 2015 Apr;56(4):532-540.
- doi: 10.3341/jkos.2015.56.4.532
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
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Kim HR, Won SJ, Fabian C, Kang MG, Szardenings M, Shin MG
- KMID: 2363141
- Ann Lab Med.
- 2015 Jan;35(1):1-14.
- doi: 10.3343/alm.2015.35.1.1
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
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Cho AR, Kang NH, Jun RM
- KMID: 2216147
- J Korean Ophthalmol Soc.
- 2015 Jan;56(1):6-12.
- doi: 10.3341/jkos.2015.56.1.6
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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