논문KCI 등재
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
연세대학교의과대학 (Yonsei University College of Medicine)|2005.06|Yonsei Medical Journal|제46권 제3호|pp. 347-352
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참고문헌 (27)
- "The metabolic & molecular bases of inherited disease. 8th ed.", pp.5759~88 (2001), McGraw-Hill
- "DNA duplication associated with Charcot-Marie-Tooth disease type 1A", pp.219~32
- "evidence for trisomy of the region p11 2 of chromosome 17 in south Wales families", pp.12~3, MacMillan JC
- "Duplication in chromosome 17p11 2 in Charcot-Marie-Tooth neuropathy type 1a", pp.93~7
- "Estimation of the size of the chromosome 17p11 2 duplication in Charcot-Marie- Tooth neuropathy type 1a", pp.5~11
- "Normalized Southern hybridization to enhance testing for Charcot-Marie-Tooth disease", 1, pp.65~71 (1996)
- "De novo mutation in hereditary motor and sensory neuropathy type I", pp.1081~2
- "Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia", pp.1010~5
- "Facilitated diagnosis of CMT1A duplication in chromosome 17p11 analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging", 9, pp.563~126 (1997)
- "Two autosomal dominant neuropathies result from reciprocal DNA duplication", deletion of a region on chromosome 17, 223~8
- "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
- "Molecular genetic analysis of the17p11 2 region in patients with hereditary neuropathy with liability to pressure palsies", 97, pp.26~34 (1996)
- "Duplication of the PMP 22 gene in 17p partial trisomy patients with Charcot- Marie-Tooth type-1 neuropathy", 97, pp.642~9 (1996)
- "Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH implications for testing in the cytogenetics laboratory", 69, pp.325~31 (1997)
- "Prenatal diagnosis of Charcot-Marie- Tooth disease type 1A CMT1A using molecular genetic techniques", 15, pp.633~40 (1995)
- "Polymorphisms in the PMP-22 gene region are crucial for simplified diagnosis of duplications", deletions, 1997, pp.99, 688~91
- "Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies", 4, pp.117~22 (1999)
- "Clustering of CMT1A duplication breakpoints in a 700-bp interval of the CMT1A-REP repeat", 11, pp.109~13 (1998)
- "Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR", 44, pp.724~30 (1998)
- "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)
- "Comparative Ct method. ABI Prism 7700 Sequence Detection System.", (2) (1997)
- "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
- "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)
- "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
- "Evaluation of HER2", neu status by real-time quantitative PCR in breast cancer, 2002, pp.43, 335~40
- "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies", 13, pp.11~28 (1999)
- "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]
관련 논문AI추천
A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene김명신, 이정환, 임지숙, 최고운대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제2호A Family Harboring CMT1A Duplication and HNPP Deletion강희진, 김상범, 김준기, 송현석, 이정화, 정기화, 조선영, 최병옥, 황수진대한신경과학회 · Journal of Clinical Neurology2007 · 제3권 제2호유전학적으로 진단된 Charcot-Marie-Tooth 1A 환자의 전기생리학적 특성김승민, 서범천, 이미희, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2006 · 제24권 제1호ereditary Neuropathy with Liability to Pressure Palsies와 Charcot-Marie-Tooth1A 환자군의 신경전도검사 소견의 비교김상운, 김승민, 김지현, 이종윤, 정연경, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2004 · 제22권 제4호Ultrasonography Findings in Hereditary Neuropathy with Liability to Pressure Palsies Due to Single-Nucleotide Substitution김용균, 노수호, 박형준, 서범천, 안소이, 정윤형대한신경과학회 · Journal of Clinical Neurology2020 · 제16권 제4호MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes권혜미, 김상범, 정기화, 최병옥, Kim Hye Jin대한근전도전기진단의학회 · 대한근전도 전기진단의학회지2022 · 제24권 제3호
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