- JL1 Antigen Expression on Bone Marrow Lymphoma Cells from Patients With Non-Hodgkin Lymphoma
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Kim MS, Park CJ, Cho YU, Jang S, Seo EJ, Park CS, Huh J, Im HJ, Seo JJ, Yoon DH, Suh C
- KMID: 2457486
- Ann Lab Med.
- 2020 Jan;40(1):1-6.
- doi: 10.3343/alm.2020.40.1.1
BACKGROUND: JL1, a CD43 epitope and mucin family cell surface glycoprotein, is expressed on leukemic cells. An anti-JL1 antibody combined with a toxic substance can have targeted therapeutic effects against... -
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- Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
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Park JE, Park JK, Kang MY, Jo HC, Cho IA, Baek JC
- KMID: 2470102
- J Genet Med.
- 2019 Dec;16(2):76-80.
- doi: 10.5734/JGM.2019.16.2.76
About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal... -
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- Prediction of preeclampsia in the first trimester of pregnancy using maternal characteristics, mean arterial pressure, and uterine artery Doppler data in a Brazilian population
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Leite JD, Lobo GA, Nowak PM, Antunes IR, Araujo Júnior E, Pares DB
- KMID: 2462116
- Obstet Gynecol Sci.
- 2019 Nov;62(6):391-396.
- doi: 10.5468/ogs.2019.62.6.391
OBJECTIVE: To evaluate the performance of the preeclampsia (PE) screening algorithm of the Fetal Medicine Foundation (FMF) during the first trimester in a Brazilian population using maternal characteristics, mean arterial... -
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- Hypomelanosis of Ito with Multiple Congenital Anomalies
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Yu DA, Kwon O, Kim KH
- KMID: 2456238
- Ann Dermatol.
- 2019 Oct;31(5):576-580.
- doi: 10.5021/ad.2019.31.5.576
Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI... -
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- Usefulness of Chromosomal Microarray in Hematologic Malignancies: A Case of Aggressive NK-cell Leukemia with 1q Abnormality
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Chung YN, Kim HN, Lee SR, Sung HJ, Nam MH
- KMID: 2450847
- Lab Med Online.
- 2019 Jul;9(3):189-193.
- doi: 10.3343/lmo.2019.9.3.189
A variety of clonal cytogenetic abnormalities have been reported in aggressive natural killer (NK)-cell lymphoma and leukemia. Recent chromosomal microarray studies have shown both gain and loss of 1q and... -
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- Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing
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Kang M, Cho E, Jang J, Lee J, Jeon Y, Jeong BC, Seo SI, Jeon SS, Lee HM, Choi HY, Jeon HG
- KMID: 2450539
- Investig Clin Urol.
- 2019 Jul;60(4):227-234.
- doi: 10.4111/icu.2019.60.4.227
PURPOSE: To analyze the characteristics of somatic mutations and copy number alterations (CNAs) in Korean patients with advanced prostate cancer (PCa) by use of the Oncomine Comprehensive Panel (ThermoFisher Scientific)... -
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- Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile
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Kwak DW, Boo H, Chang EH, Ryu HM, Han YJ, Chung JH, Kim MY, Yang EJ, Yoo HJ, Kim JW
- KMID: 2453042
- Perinatology.
- 2019 Jun;30(2):78-82.
- doi: 10.14734/PN.2019.30.2.78
OBJECTIVE: To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of... -
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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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- Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience
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Lee DE, Kim H, Park J, Yun T, Park DY, Kim M, Ryu HM
- KMID: 2449987
- J Korean Med Sci.
- 2019 Jun;34(24):e172.
- doi: 10.3346/jkms.2019.34.e172
BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility... -
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- Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening
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Kim MK, Park JK, Jeon Y, Seok SH, Chang EM, Lee WS
- KMID: 2469603
- Clin Exp Reprod Med.
- 2019 Mar;46(1):22-29.
- doi: 10.5653/cerm.2019.46.1.22
OBJECTIVE: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the... -
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- T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia
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Kim H, Kim IS, Chang CL, Kong SY, Lim YT, Kong SG, Cho EH, Lee EY, Shin HJ, Park HJ, Eom HS, Lee H
- KMID: 2425967
- Ann Lab Med.
- 2019 Mar;39(2):125-132.
- doi: 10.3343/alm.2019.39.2.125
BACKGROUND: Chromosomal abnormalities and common genetic rearrangements related to T-acute lymphoblastic leukemia (T-ALL) are not clear. We investigated T-cell receptor (TCR) rearrangement in Korean T-ALL patients by fragment analysis, examining... -
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- Prenatal ultrasonography of craniofacial abnormalities
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Mak AS, Leung KY
- KMID: 2433288
- Ultrasonography.
- 2019 Jan;38(1):13-24.
- doi: 10.14366/usg.18031
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the... -
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- Dose Estimation Curves Following In Vitro X-ray Irradiation Using Blood From Four Healthy Korean Individuals
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Jang MA, Han EA, Lee JK, Cho KH, Shin HB, Lee YK
- KMID: 2420277
- Ann Lab Med.
- 2019 Jan;39(1):91-95.
- doi: 10.3343/alm.2019.39.1.91
Cytogenetic dosimetry is useful for evaluating the absorbed dose of ionizing radiation based on analysis of radiation-induced chromosomal aberrations. We created two types of in vitro dose-response calibration curves for... -
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- Report on the External Quality Assessment Scheme for Cytogenetics and Molecular Cytogenetics in Korea (2016–2017)
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Kim J, Shin S, Kim B, Lee ST, Kim M, Choi JR
- KMID: 2437187
- J Lab Med Qual Assur.
- 2018 Dec;40(4):188-198.
- doi: 10.15263/jlmqa.2018.40.4.188
In both 2016 and 2017, the cytogenetic and molecular cytogenetic programs conducted three assessments for the Korean Association of External Quality Assessment Service. A total of six cases with chromosomal... -
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- Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
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Hyun JK, Jung YJ
- KMID: 2435953
- J Genet Med.
- 2018 Dec;15(2):115-119.
- doi: 10.5734/JGM.2018.15.2.115
The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220-kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and... -
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- The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
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Boo H, Kim SY, Seoung ES, Kim MH, Kim MY, Ryu HM, Han YJ, Chung JH
- KMID: 2435946
- J Genet Med.
- 2018 Dec;15(2):79-86.
- doi: 10.5734/JGM.2018.15.2.79
PURPOSE: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. MATERIALS AND METHODS: This... -
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- Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
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Shim SH, Cha DH
- KMID: 2435942
- J Genet Med.
- 2018 Dec;15(2):49-54.
- doi: 10.5734/JGM.2018.15.2.49
Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal... -
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- Altered expression of MALAT1 lncRNA in chronic lymphocytic leukemia patients, correlation with cytogenetic findings
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Ahmadi A, Kaviani S, Yaghmaie M, Pashaiefar H, Ahmadvand , Jalili M, Alimoghaddam K, Eslamijouybari M, Ghavamzadeh A
- KMID: 2429307
- Blood Res.
- 2018 Dec;53(4):320-324.
- doi: 10.5045/br.2018.53.4.320
BACKGROUND: Recent studies have devoted much attention to non-protein-coding transcripts in relation to a wide range of malignancies. MALAT1, a long non-coding RNA, has been reported to be associated with... -
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- Clinical Significance of Random Urinary Vanillylmandelic Acid in Patients with Neuroblastoma
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Park E, Park H, Cho H, Ma Y, Lee SY, Lee JW, Yoo KH, Sung KW, Koo HH
- KMID: 2435406
- Clin Pediatr Hematol Oncol.
- 2018 Oct;25(2):142-148.
- doi: 10.15264/cpho.2018.25.2.142
BACKGROUND: To evaluate the value of random urinary vanillylmandelic acid (VMA) as a surrogate marker for monitoring tumor response and predicting outcome in patients with neuroblastoma (NB). METHODS: Medical records of... -
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- Characterization of Human Fetal Cartilage Progenitor Cells During Long-Term Expansion in a Xeno-Free Medium
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Kim HR, Kim J, Park SR, Min BH, Choi BH
- KMID: 2422678
- Tissue Eng Regen Med.
- 2018 Oct;15(5):649-659.
- doi: 10.1007//s13770-018-0132-z
BACKGROUND: Stem cell therapy requires a serum-free and/or chemically-defined medium for commercialization, but it is difficult to find one that supports long-term expansion of cells without compromising their stemness, particularly... -
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