- Pseudoisodicentric X chromosome in a female with primary amenorrhea
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Park SH, Shim SH, Chin MU, Kang SJ, Bae SM, Sohn SM, Cha DH, Yoon TK, Cho JH
- KMID: 2184449
- J Genet Med.
- 2008 Jun;5(1):61-64.
A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with... -
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- Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
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Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH
- KMID: 2386610
- J Genet Med.
- 2017 Jun;14(1):43-47.
- doi: 10.5734/JGM.2017.14.1.43
Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects.... -
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- Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
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Kang KM, Sung SR, Park JE, Shin YJ, Park SH, Chin MU, Lyu SW, Cha DH, Shim SH
- KMID: 2327697
- J Genet Med.
- 2016 Jun;13(1):14-19.
- doi: 10.5734/JGM.2016.13.1.14
PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1... -
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- p53 Mutation and Functional Analyses by Using Yeast Functional Assay
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Song BJ, Kim CS, Kim IS, Han SM, Nam HJ, Chin MU, Kim DH, Kim DH, Cho HP, Moon YH
- KMID: 2059284
- J Korean Cancer Assoc.
- 1999 Oct;31(5):876-886.
PURPOSE: Mutation of the p53 tumor suppressor gene is the most common genetic defect in all human tumors. Because of the widespread mutations and polymorphism in the p53 gene, the... -
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