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Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH

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

Kang KM, Sung SR, Park JE, Shin YJ, Park SH, Chin MU, Lyu SW, Cha DH, Shim SH

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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Pseudoisodicentric X chromosome in a female with primary amenorrhea

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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p53 Mutation and Functional Analyses by Using Yeast Functional Assay

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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