- A Cytogenetic Analysis of Abortus with Spontaneous Abortion
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Hwang SM, Kwon KH, Yoon KA, Oh SK
- KMID: 2244892
- J Genet Med.
- 2009 Jun;6(1):62-66.
PURPOSE: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries... -
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- Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family
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Min SA, Lim SW, Kim YS, Lee OK
- KMID: 2335660
- J Korean Pediatr Soc.
- 2002 Jul;45(7):917-922.
An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation... -
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- Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy
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Lee BY, Park SY, Lee MH, Kim JW, Park JY, Choi EY, Lee YW, Oh AR, Lee SY, Kim MH, Ryu HM
- KMID: 2244898
- J Genet Med.
- 2009 Jun;6(1):95-99.
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level... -
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- Combined Genome-Wide Linkage and Association Analyses of Fasting Glucose Level in Healthy Twins and Families of Korea
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Suh YJ, Kim S, Kim SH, Park J, Lim HA, Park HJ, Choi H, Ng D, Lee MK, Nam M
- KMID: 1786940
- J Korean Med Sci.
- 2013 Mar;28(3):415-423.
- doi: 10.3346/jkms.2013.28.3.415
This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus... -
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- Discrepancy in cytogenetic results between amniotic fluid cells and other fetal tissues: A case report
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Park JW, Kang HS, Oh KJ, Park CW, Ahn HS, Park JS, Jun JK, Oh SK, Choi YM, Moon SY, Syn HC
- KMID: 2273823
- Korean J Obstet Gynecol.
- 2009 Dec;52(12):1319-1321.
We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both... -
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- A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
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Kang JE, Park MY, Cheon CK, Lee HD, Hwang SH, Yi J
- KMID: 1781445
- Ann Lab Med.
- 2012 Jan;32(1):91-94.
- doi: 10.3343/alm.2012.32.1.91
Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital... -
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- Genetic Alterations in Primary Gastric Carcinomas Correlated with Clinicopathological Variables by Array Comparative Genomic Hybridization
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Kang JU, Kang JJ, Kwon KC, Park JW, Jeong TE, Noh SM, Koo SH
- KMID: 2157817
- J Korean Med Sci.
- 2006 Aug;21(4):656-665.
- doi: 10.3346/jkms.2006.21.4.656
Genetic alterations have been recognized as an important event in the carcinogenesis of gastric cancer (GC). We conducted high resolution bacterial artificial chromosome array-comparative genomic hybridization, to elucidate in more... -
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- Chromosomal Alterations in Gastric Cancer Cell Lines Detected by Comparative Genomic Hybridization
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Ha MJ, Park SJ, Kang HW, Kim HJ, Kim HC
- KMID: 2175217
- J Korean Cancer Assoc.
- 1999 Apr;31(2):219-229.
PURPOSE: There are only a few cytogenetic studies in gastric cancer and so far no consistent specific chromosomal abnormalities have been described. In this study, we have used comparative genomic... -
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- A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
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Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH
- KMID: 2386607
- J Genet Med.
- 2017 Jun;14(1):31-33.
- doi: 10.5734/JGM.2017.14.1.31
Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental... -
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- Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
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Lee JH, Kim HS, Kim GH, Yoo HW
- KMID: 2386604
- J Genet Med.
- 2017 Jun;14(1):18-22.
- doi: 10.5734/JGM.2017.14.1.18
Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes... -
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- An unrelated Clone of 20q Deletion Following Successful Treatment of Leukemia in Patients with t(8;21), t(15;17) or t(9;22)
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Hahm C, Mun YC, Seong CM, Chung WS, Huh J
- KMID: 1426765
- J Lab Med Qual Assur.
- 2012 Dec;34(2):107-111.
Cases of clonal cytogenetic abnormalities in Philadelphia-negative cells during the treatment of Philadelphia-positive CML have been previously reported. However, clonal abnormalities unrelated to the original t(8;21) or t(15;17) karyotype are... -
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- Additional Genomic Aberrations Identified by Single Nucleotide Polymorphism Array-Based Karyotyping in an Acute Myeloid Leukemia Case with Isolated del(20q) Abnormality
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Hahm C, Mun YC, Seong CM, Chung WS, Huh J
- KMID: 2434489
- Ann Lab Med.
- 2012 Nov;32(6):445-449.
Prognosis is known to be better in cases with isolated chromosomal abnormalities than in those with complex karyotypes. Accordingly, del(20q) as an isolated abnormality must be distinguished from cases in... -
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- Genetic Architecture of Circulating Very-Long-Chain (C24:0 and C22:0) Ceramide Concentrations
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Cresci S, Zhang R, Yang Q, Duncan MS, Xanthakis , Jiang X, Vasan RS, Schaffer J, Peterson L
- KMID: 2470809
- J Lipid Atheroscler.
- 2020 Jan;9(1):172-183.
- doi: 10.12997/jla.2020.9.1.172
OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are... -
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