- Centromere Protein-F-like Pattern in a Patient With Rheumatoid Arthritis
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Hur K, Jearn LH, Kim TY
- KMID: 2425982
- Ann Lab Med.
- 2019 Mar;39(2):227-228.
- doi: 10.3343/alm.2019.39.2.227
No abstract available. -
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- Degree of Agreement between Phadia EliA ENA and Euroimmun line Immunoassay; Comparison of Two Methods to Evaluate the Ability to Detect ENA Antibodies
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Hwang HY
- KMID: 1993583
- Kosin Med J.
- 2012 Jun;27(1):25-30.
- doi: 10.7180/kmj.2012.27.1.25
OBJECTIVES: The purpose of this study is to compare newly developed assay for identification of ENA antibody, Phadia EliA ENA with Euroimmun line immunoassay by analyzing the degree of agreement... -
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- HER2-Positive Breast Carcinomas with Co-amplification or Gain of Chromosome 17 Centromere Locus: Report of Three Cases and an Impact on HER2 Testing
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Shin HC, Bae YK, Kim A, Park SJ
- KMID: 1979073
- Korean J Pathol.
- 2011 Dec;45(6):665-669.
Recently we experienced three cases of human epidermal growth factor receptor 2 (HER2)-amplified invasive breast carcinomas associated with co-amplification or gain of chromosome 17 centromere (CEP17) in silver-enhanced in situ... -
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- Detection of a Familial Y/l5 Translocation by FISH, G-Banding, C-Banding, and Ag-NOR Stain
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Lee KM, Kim KH, Han JY, Je GH, Shaffer LG
- KMID: 2146218
- Korean J Clin Pathol.
- 1997 Dec;17(6):1176-1181.
Prenatal chromosome analysis of amniotic cells at 18 weeks of gestation showed a male fetus to carry a large 15p+ derivative chromosome inherited from his mother. Extra genetic material on... -
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- Molecular Analysis of the Y Chromosome in a 46,XY Female Phenotype
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Kim JW, Kim TJ, Park SY, Nam SA, Jun JY
- KMID: 1536936
- J Genet Med.
- 1999 Dec;3(1):5-10.
This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has... -
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- A Case of Premature Ovarian Failure Assosiated with Gonadal Dysgenesis
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Lee SH, Yoon TK, Cha KY, Nam YS, Kwak IP
- KMID: 2261273
- Korean J Obstet Gynecol.
- 1999 Jan;42(1):138-141.
Prenature ovarian failure is a condition causing amenarrhea, hypoestrogenism, and elevated genadotropins in women younger than 40 years. A karyotype should be performed as part of basic laboratory evaluation for... -
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- Molecular and Cytogenetic Findings in 46,XX Males
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Choi SK
- KMID: 1538078
- J Genet Med.
- 1998 Mar;2(1):11-16.
This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic... -
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- A high resolution genetic mapping of the faded (fe) gene to a region between D10mit156 and D10mit193 on mouse chromosome 10
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Oh SH, Nam H, Suh JG
- KMID: 2312101
- Lab Anim Res.
- 2013 Mar;29(1):33-38.
- doi: 10.5625/lar.2013.29.1.33
The C57BL/6J-fe/fe mouse is a coat color mutant. The coat color of the homozygote mouse becomes progressively lighter with advancing age. The faded gene (fe) of C57BL/6J-fe/fe was mapped in... -
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- Molecular Diagnosis and Determination of the Parental Origin of Extrachromosome 21 in Korean with Down Syndrome Using DNA Haplotyping
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Lee JS, Choi WK
- KMID: 2335256
- J Korean Pediatr Soc.
- 1997 Jul;40(7):917-924.
Purposes : Down syndrome, the most common single cause of mental retardation, is usually due to meiotic nondisjunction leading to trisomy 21. In order to understand the mechanisms of meiotic... -
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- Multiplication of Chromosome 17 Centromere Is Associated with Prognosis in Patients with Invasive Breast Cancers Exhibiting Normal HER2 and TOP2A Status
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Kim A, Shin HC, Bae YK, Kim MK, Kang SH, Lee SJ, Lee EH
- KMID: 2286470
- J Breast Cancer.
- 2012 Mar;15(1):24-33.
- doi: 10.4048/jbc.2012.15.1.24
PURPOSE: This study aimed to investigate the clinical significance of chromosome 17 centromere (CEP17) multiplication (increased copy number of CEP17) related to human epidermal growth factor receptor 2 (HER2) and... -
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- Prenatal Diagnosis of Yq Deletion by Cytogenetic and Fluorescence in Situ Hybridization
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Park IY, Cheon SH, Kim M, Son JO, Lee Y, Shin JC, Kim CY
- KMID: 2072108
- Korean J Perinatol.
- 2004 Dec;15(4):356-361.
OBJECTIVE: The accurate evaluation of a marker chromosome has been limited during prenatal karyotyping. We proposed a method of step-by-step approach to evaluate the origin of a marker chromosome. METHODS: A... -
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- Antinuclear Antibodies in Patients with Behcet's Disease
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Chun EY, Park SG, Cho YH, Lee JH, Lee KH, Bang DS, Lee ES, Lee SN
- KMID: 2302880
- Korean J Dermatol.
- 2004 May;42(5):545-550.
BACKGROUND: Behcet's disease has features consistent with an immunopathogenic mechanism, but the autoreactivity in pathogenesis is unclear. OBJECTIVE: This study was to investigate the association of antinuclear antibodies (ANA) with... -
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- Serum Elastin-Derived Peptides and Anti-Elastin Antibody in Patients with Systemic Sclerosis
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Hong YJ, Kim J, Oh BR, Lee YJ, Lee EY, Lee EB, Lee SH, Song YW
- KMID: 1372788
- J Korean Med Sci.
- 2012 May;27(5):484-488.
- doi: 10.3346/jkms.2012.27.5.484
The elastin metabolism in systemic sclerosis (SSc) has been known to be abnormal. The authors investigated relationship between the clinical manifestations of systemic sclerosis (SSc) and serum levels of soluble... -
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- A boy with 46,X,+mar presenting gynecomastia and short stature
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Kim KE, Kim YJ, Jung MK, Chae HW, Kwon AR, Lee WJ, Kim DH, Kim HS
- KMID: 2400784
- Ann Pediatr Endocrinol Metab.
- 2017 Dec;22(4):266-271.
- doi: 10.6065/apem.2017.22.4.266
A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left... -
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- WDR46 is a Genetic Risk Factor for Aspirin-Exacerbated Respiratory Disease in a Korean Population
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Pasaje CF, Bae JS, Park BL, Cheong HS, Kim JH, Uh ST, Park CS, Shin HD
- KMID: 1970708
- Allergy Asthma Immunol Res.
- 2012 Jul;4(4):199-205.
- doi: 10.4168/aair.2012.4.4.199
PURPOSE: The human WD repeat-containing protein 46 (WDR46; also known as C6orf11), located at the disease-relevant centromere side of the class II major histocompatibility complex region, is hypothesized to be... -
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- Role of multicolor fluorescence in situ hybridization (FISH) in simultaneous detection of probe sets for chromosome 18, X and Y in uncultured amniotic fluid cells
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Kim JI, Rhee JH
- KMID: 1731319
- J Korean Med Sci.
- 1999 Aug;14(4):438-442.
- doi: 10.3346/jkms.1999.14.4.438
Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The... -
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- Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome
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Kim JW, Cho EH, Kim YM, Kim JM, Han JY, Park SY
- KMID: 927132
- Exp Mol Med.
- 2000 Mar;32(1):38-41.
Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it... -
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- A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
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Cho SY, Lim G, Kim SY, Kim MJ, Lee KA, Choi JR, Lee HJ, Suh JT, Park TS, Jung E
- KMID: 1781652
- Korean J Lab Med.
- 2010 Aug;30(4):440-443.
- doi: 10.3343/kjlm.2010.30.4.440
Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe... -
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- Identification of Y-chromosome by Molecular Analysis in Patients with Turner Syndrome
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Kim HR, Shin JH, Jung WY, Lee JN
- KMID: 2238904
- Korean J Lab Med.
- 2006 Apr;26(2):131-136.
- doi: 10.3343/kjlm.2006.26.2.131
BACKGROUND: It is known that the Y chromosome or Y-specific sequence is present in about 6% of Turner syndrome (TS) patients and that it predisposes them to gonadoblastoma formation with... -
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- Comparison of the Efficacy of Urine Cytology and Fluorescence in Situ Hybridization (FISH) for the Detection of Bladder Urothelial Carcinoma
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Choi YD, Cho NH, Chang SY, Rha SY, Chung HC, Park K
- KMID: 2293482
- Korean J Urol.
- 2004 May;45(5):410-415.
PURPOSE: We compared the relative sensitivity and specificity between the urine cytology and fluorescence in situ hybridization (FISH) for the detection of urothelial carcinoma. MATERIALS AND METHODS: FISH was used a... -
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