- Proteomic Signatures in Spermatozoa Reveal the Role of Paternal Factors in Recurrent Pregnancy Loss
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Mohanty G, Jena SR, Nayak J, Kar S, Samanta L
- KMID: 2465415
- World J Mens Health.
- 2020 Jan;38(1):103-114.
- doi: 10.5534/wjmh.190034
PURPOSE: To identify the paternal factors responsible for aberrant embryo development leading to loss of foetus in recurrent pregnancy loss (RPL) through proteomic analysis of ejaculated spermatozoa. MATERIALS AND METHODS: This... -
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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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- Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure
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Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW
- KMID: 2470097
- J Genet Med.
- 2019 Dec;16(2):49-54.
- doi: 10.5734/JGM.2019.16.2.49
PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in... -
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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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- Guideline on safety evaluation of cell-based medicinal products for animal use
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Ku HO, Yi H, Park YI, Jeon BS, Kang HG, Kim YS, Park BK
- KMID: 2454016
- J Vet Sci.
- 2019 Mar;20(2):e14.
- doi: 10.4142/jvs.2019.20.e14
With the increased use of cell therapy in the veterinary sector, there is a growing demand for the development of cell-based medicinal products and the determination of their safety. Currently,... -
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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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- Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review
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Park JE, Park JK, Cho IA, Baek JC
- KMID: 2435973
- J Genet Med.
- 2018 Jun;15(1):43-47.
- doi: 10.5734/JGM.2018.15.1.43
Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we... -
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- Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant
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Jung YJ
- KMID: 2415848
- Kosin Med J.
- 2018 Jun;33(1):117-121.
- doi: 10.7180/kmj.2018.33.1.117
A premature infant with gestational age 36âºâ´ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and... -
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- A Case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth
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Shin J, Kim G, Lee R, Jung N, Shim YJ, Ha JS
- KMID: 2435425
- Clin Pediatr Hematol Oncol.
- 2018 Apr;25(1):56-60.
- doi: 10.15264/cpho.2018.25.1.56
Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal... -
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- Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies
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Lee SH, Song WJ
- KMID: 2394764
- Genomics Inform.
- 2017 Sep;15(3):82-86.
- doi: 10.5808/GI.2017.15.3.82
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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- Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay
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Lee KY, Shin E
- KMID: 2390496
- Korean J Pediatr.
- 2017 Sep;60(9):282-289.
- doi: 10.3345/kjp.2017.60.9.282
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH)... -
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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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- Evaluation of a new flow cytometry based method for detection of BCR-ABL1 fusion protein in chronic myeloid leukemia
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Dasgupta S, Ray UK, Mitra AG, Bhattacharyya DM, Mukhopadhyay A, Das P, Gangopadhyay S, Roy S, Mukhopadhyay S
- KMID: 2413328
- Blood Res.
- 2017 Jun;52(2):112-118.
- doi: 10.5045/br.2017.52.2.112
BACKGROUND: Philadelphia chromosome, a hallmark of chronic myeloid leukemia (CML), plays a key role in disease pathogenesis. It reflects a balanced reciprocal translocation between long arms of chromosomes 9 and... -
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- Prenatal diagnosis of 5p deletion syndrome: A case series report
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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... -
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- Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus
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Yoo DY, Kim HJ, Cho KH, Kwon EB, Yoo EG
- KMID: 2383910
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):133-138.
- doi: 10.6065/apem.2017.22.2.133
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of... -
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- De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl
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Sánchez-Casillas AL, Rivera H, Castro-MartÃnez AG, GarcÃa-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P
- KMID: 2373623
- Ann Lab Med.
- 2017 Jan;37(1):88-91.
- doi: 10.3343/alm.2017.37.1.88
No abstract available. -
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- A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement
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Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK
- KMID: 2373620
- Ann Lab Med.
- 2017 Jan;37(1):77-80.
- doi: 10.3343/alm.2017.37.1.77
No abstract available. -
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- Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry
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Han SJ, Kim KS, Kim W, Kim JH, Lee YH, Nam JS, Seo JA, Kim BK, Lee J, Chung JO, Kim MH, Sohn TS, Choi HS, Hong SB, Chung YS
- KMID: 2373081
- Endocrinol Metab.
- 2016 Dec;31(4):598-603.
- doi: 10.3803/EnM.2016.31.4.598
BACKGROUND: The aim of this study was to investigate the prevalence of obesity in Korean men with Klinefelter syndrome (KS) and the associated risk factors for obesity and hyperglycemia. METHODS: Data... -
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- Relapse of Biphenotypic Acute Leukemia as a Breast Mass
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Shin HC
- KMID: 2362933
- J Breast Cancer.
- 2016 Dec;19(4):455-458.
- doi: 10.4048/jbc.2016.19.4.455
In acute leukemia, leukemic infiltration of the breast is extremely rare. We report a case of biphenotypic acute leukemia (BAL) that presented as a breast mass. A 30-year-old woman presented... -
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