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Effectiveness of Real-time Quantitative PCR Compare to Repeat (REP-)PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies

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주제분류의학일반

참고문헌 (27)

  1. "The metabolic & molecular bases of inherited disease. 8th ed.", pp.5759~88 (2001), McGraw-Hill
  2. "DNA duplication associated with Charcot-Marie-Tooth disease type 1A", pp.219~32
  3. "evidence for trisomy of the region p11 2 of chromosome 17 in south Wales families", pp.12~3, MacMillan JC
  4. "Duplication in chromosome 17p11 2 in Charcot-Marie-Tooth neuropathy type 1a", pp.93~7
  5. "Estimation of the size of the chromosome 17p11 2 duplication in Charcot-Marie- Tooth neuropathy type 1a", pp.5~11
  6. "Normalized Southern hybridization to enhance testing for Charcot-Marie-Tooth disease", 1, pp.65~71 (1996)
  7. "De novo mutation in hereditary motor and sensory neuropathy type I", pp.1081~2
  8. "Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia", pp.1010~5
  9. "Facilitated diagnosis of CMT1A duplication in chromosome 17p11 analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging", 9, pp.563~126 (1997)
  10. "Two autosomal dominant neuropathies result from reciprocal DNA duplication", deletion of a region on chromosome 17, 223~8
  11. "Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1", 5-mb mo(mer unit), pp.292~300
  12. "Molecular genetic analysis of the17p11 2 region in patients with hereditary neuropathy with liability to pressure palsies", 97, pp.26~34 (1996)
  13. "Duplication of the PMP 22 gene in 17p partial trisomy patients with Charcot- Marie-Tooth type-1 neuropathy", 97, pp.642~9 (1996)
  14. "Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH implications for testing in the cytogenetics laboratory", 69, pp.325~31 (1997)
  15. "Prenatal diagnosis of Charcot-Marie- Tooth disease type 1A CMT1A using molecular genetic techniques", 15, pp.633~40 (1995)
  16. "Polymorphisms in the PMP-22 gene region are crucial for simplified diagnosis of duplications", deletions, 1997, pp.99, 688~91
  17. "Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies", 4, pp.117~22 (1999)
  18. "Clustering of CMT1A duplication breakpoints in a 700-bp interval of the CMT1A-REP repeat", 11, pp.109~13 (1998)
  19. "Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR", 44, pp.724~30 (1998)
  20. "PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie- Tooth disease type 1A", 50, pp.760~3 (1998)
  21. "Comparative Ct method. ABI Prism 7700 Sequence Detection System.", (2) (1997)
  22. "A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11 2-12 duplications and deletions leading to HMSN", HNPP, 2003, pp.11, 170~8
  23. "A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR", 7, pp.135~8 (2003)
  24. "Rapid Detection of duplication", deletion of the PMP 22 gene in patients with Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I Dye, 2003, pp.18, 727~32
  25. "Evaluation of HER2", neu status by real-time quantitative PCR in breast cancer, 2002, pp.43, 335~40
  26. "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies", 13, pp.11~28 (1999)
  27. "Hereditary motor and sensory neuropathy or Charcot-Marie-Tooth disease type 1A and 1B, 2nd ed. Royal Soc Med, London", Eur Neuromuscular Centre, 1997, 49~52[DOI]

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