- Embryonal Carcinoma of the Pineal Gland Developed in an Adolescent Boy with Klinefelter Syndrome
-
Choi HJ, Kim EA, Lee JM, Jang KM, Choi JH
- KMID: 2464259
- Clin Pediatr Hematol Oncol.
- 2019 Oct;26(2):105-109.
- doi: 10.15264/cpho.2019.26.2.105
Klinefelter syndrome (KS) is characterized by small testes, gynecomastia, tall stature, and hypergonadotropic hypogonadism. This condition is associated with extra X chromosomes. It is well known that these aneuploidies predispose... -
- CITED
-
- Close
- SHARE
-
- Close
- Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
-
Kim SH, Kim KW, Han YJ, Lee SM, Lee MY, Shim JY, Cho GJ, Lee JH, Oh SY, Kwon HS, Cha DH, Ryu HM
- KMID: 2435945
- J Genet Med.
- 2018 Dec;15(2):72-78.
- doi: 10.5734/JGM.2018.15.2.72
PURPOSE: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for... -
- CITED
-
- Close
- SHARE
-
- Close
- Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Knowledge and Information Need for Prenatal Genetic Screening and Diagnosis and Attitude toward Terminating Pregnancy among Pregnant Women in South Korea
-
Jun M, Shin G, Kim HK
- KMID: 2427593
- J Korean Acad Soc Nurs Educ.
- 2018 Nov;24(4):463-477.
- doi: 10.5977/jkasne.2018.24.4.463
PURPOSE: This study identifies correlations among information needs and knowledge about prenatal genetic screening and diagnosis (I-PGSD & K-PGSD), and attitude toward terminating pregnancy (ATP) among pregnant women in South... -
- CITED
-
- Close
- SHARE
-
- Close
- Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age
-
Kim SM, Kim HH, Han YJ, Choi JS, Ryu HM, Yang S, Kim MH
- KMID: 2439718
- Obstet Gynecol Sci.
- 2018 Jul;61(4):453-460.
- doi: 10.5468/ogs.2018.61.4.453
OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical significance of sonographic soft markers: A review
-
Kim MS, Kang S, Cho HY
- KMID: 2435964
- J Genet Med.
- 2018 Jun;15(1):1-7.
- doi: 10.5734/JGM.2018.15.1.1
Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience
-
Jung HA, Jang MA, Kim K, Kim SH
- KMID: 2403452
- Ann Lab Med.
- 2018 May;38(3):196-203.
- doi: 10.3343/alm.2018.38.3.196
BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical assessment of the male fertility
-
Khatun A, Rahman MS, Pang MG
- KMID: 2420171
- Obstet Gynecol Sci.
- 2018 Mar;61(2):179-191.
- doi: 10.5468/ogs.2018.61.2.179
The evaluation of infertility in males consists of physical examination and semen analyses. Standardized semen analyses depend on the descriptive analysis of sperm motility, morphology, and concentration, with a threshold... -
- CITED
-
- Close
- SHARE
-
- Close
- Sperm DNA fragmentation and sex chromosome aneuploidy after swim-up versus density gradient centrifugation
-
Kim SW, Jee BC, Kim SK, Kim SH
- KMID: 2401622
- Clin Exp Reprod Med.
- 2017 Dec;44(4):201-206.
- doi: 10.5653/cerm.2017.44.4.201
OBJECTIVE: The aim of this study was to compare the efficacy of swim-up and density gradient centrifugation (DGC) for reducing the amount of sperm with fragmented DNA, sex chromosome aneuploidy,... -
- CITED
-
- Close
- SHARE
-
- Close
- What is the Meaning of Anaphase-Promoting Complex 7 in Malignant Neoplasms?
-
Chang WY
- KMID: 2391452
- Ann Coloproctol.
- 2017 Aug;33(4):123-124.
- doi: 10.3393/ac.2017.33.4.123
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Antitumor Effect of KX-01 through Inhibiting Src Family Kinases and Mitosis
-
Kim S, Min A, Lee KH, Yang Y, Kim TY, Lim JM, Park SJ, Nam HJ, Kim JE, Song SH, Han SW, Oh DY, Kim JH, Kim TY, Hangauer D, Lau JY, Im K, Lee DS, Bang YJ, Im SA
- KMID: 2388310
- Cancer Res Treat.
- 2017 Jul;49(3):643-655.
- doi: 10.4143/crt.2016.168
PURPOSE: KX-01 is a novel dual inhibitor of Src and tubulin. Unlike previous Src inhibitors that failed to show clinical benefit during treatment of breast cancer, KX-01 can potentially overcome... -
- CITED
-
- Close
- SHARE
-
- Close
- 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
- 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... -
- CITED
-
- Close
- SHARE
-
- Close
- Prenatal diagnosis of 5p deletion syndrome: A case series report
-
Han YJ, Kwak DW
- KMID: 2386608
- J Genet Med.
- 2017 Jun;14(1):34-37.
- doi: 10.5734/JGM.2017.14.1.34
5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are... -
- CITED
-
- Close
- SHARE
-
- Close
- 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
- KMID: 2381921
- Korean J Thorac Cardiovasc Surg.
- 2017 Apr;50(2):126-129.
- doi: 10.5090/kjtcs.2017.50.2.126
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization
-
Sills ES, Obregon-Tito AJ, Gao H, McWilliams TK, Gordon AT, Adams CA, Slim R
- KMID: 2408586
- Clin Exp Reprod Med.
- 2017 Mar;44(1):40-46.
- doi: 10.5653/cerm.2017.44.1.40
OBJECTIVE: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition... -
- CITED
-
- Close
- SHARE
-
- Close
- An overview of current knowledge about cell-free RNA in amniotic fluid
-
Jung YW, Shin YJ, Shim SH, Cha DH
- KMID: 2369022
- J Genet Med.
- 2016 Dec;13(2):65-71.
- doi: 10.5734/JGM.2016.13.2.65
Cell-free nucleic acids (cf-NAs) originate in trophoblasts and are detected in the maternal plasma. Using innovative bioinformatic technologies such as next-generation sequencing, cf-NAs in the maternal plasma have been rapidly... -
- CITED
-
- Close
- SHARE
-
- Close
- Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution
-
Shin YJ, Chung JH, Kim DJ, Ryu HM, Kim MY, Han JY, Choi JS
- KMID: 2378568
- Obstet Gynecol Sci.
- 2016 Nov;59(6):444-453.
- doi: 10.5468/ogs.2016.59.6.444
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women... -
- CITED
-
- Close
- SHARE
-
- Close
