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Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome

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참고문헌 (9)

  1. Schinzel A, "Tetrasomy 12p(Pallister-Killian syndrome)", J Med Genet, 28, pp.122~125 (1991)
  2. Izumi K, "Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region", Am J Med Genet A, 158A, pp.3033~3045 (2012)
  3. Tang W, "Cell death as a possible mechanism for tissue limited mosaicism in Pallister-Killian syndrome", J Assoc Genet Technol, 31, pp.168~169 (2005)
  4. Peltomäki P, "Pallister-Killian syndrome : cytogenetic and molecular studies", Clin Genet, 31, pp.399~405 (1987)
  5. Reeser SL, "Failure of PHA-stimulated i(12p)lymphocytes to divide in Pallister-Killian syndrome", Am J Med Genet, 42, pp.815~819 (1992)
  6. Priest JH, "Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p)syndrome : relevance for prenatal diagnosis", Am J Med Genet, 42, pp.820~824 (1992)
  7. Mi-Na Lee, "Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome", Annals of Laboratory Medicine, 37(1), pp.66~70 (2017), 대한진단검사의학회
  8. Ballif BC, "Detection of low-level mosaicism by array CGH in routine diagnostic specimens", Am J Med Genet A, 140, pp.2757~2767 (2006)
  9. Fujiki K, "Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR", Mol Genet Genomic Med, 4, pp.257~261 (2016)

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