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Volumn 5, Issue APR, 2014, Pages

Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR

Author keywords

Allelic expansion; CTG; Myotonic dystrophy type 1 (DM1); Trinucleotide repeat; Triplet repeat primed PCR

Indexed keywords

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENETIC ANALYSIS; GENETIC COMPATIBILITY; HUMAN; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT PRIMED POLYMERASE CHAIN REACTION;

EID: 84901005388     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2014.00094     Document Type: Article
Times cited : (16)

References (11)
  • 1
    • 84966398584 scopus 로고    scopus 로고
    • Myotonic Dystrophy Type 1
    • Bird, T. (2013). Myotonic Dystrophy Type 1. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1165/.
    • (2013) GeneReviews
    • Bird, T.1
  • 2
    • 77956816409 scopus 로고    scopus 로고
    • An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis
    • doi: 10.2353/jmoldx.2010.090227
    • Chen, L., Hadd, A., Sah, S., Filipovic-Sadic, S., Krosting, J., Sekinger, E., et al. (2010). An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J. Mol. Diagn. 12, 589-600. doi: 10.2353/jmoldx.2010.090227.
    • (2010) J. Mol. Diagn. , vol.12 , pp. 589-600
    • Chen, L.1    Hadd, A.2    Sah, S.3    Filipovic-Sadic, S.4    Krosting, J.5    Sekinger, E.6
  • 3
    • 0031881189 scopus 로고    scopus 로고
    • Genotype - phenotype correlation in myotonic dystrophy
    • doi: 10.1034/j.1399-0004.1998.531530105.x
    • Gharehbaghi-Schnell, E. B., Finsterer, J., Korschineck, I., Mamoli, B., and Binder, B. R. (1998). Genotype - phenotype correlation in myotonic dystrophy. Clin. Genet. 53, 20-26. doi: 10.1034/j.1399-0004.1998.531530105.x.
    • (1998) Clin. Genet. , vol.53 , pp. 20-26
    • Gharehbaghi-Schnell, E.B.1    Finsterer, J.2    Korschineck, I.3    Mamoli, B.4    Binder, B.R.5
  • 4
    • 84868215784 scopus 로고    scopus 로고
    • Myotonic dystrophy: from bench to bedside
    • doi: 10.1055/s-0032-1329202
    • Johnson, N. E., and Heatwole, C. R. (2012). Myotonic dystrophy: from bench to bedside. Semin. Neurol. 32, 246-254. doi: 10.1055/s-0032-1329202.
    • (2012) Semin. Neurol. , vol.32 , pp. 246-254
    • Johnson, N.E.1    Heatwole, C.R.2
  • 5
    • 68749114098 scopus 로고    scopus 로고
    • Technical standards and guidelines for myotonic dystrophy type 1 testing
    • American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. doi: 10.1097/GIM.0b013e3181abce0f
    • Prior, T. W., American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. (2009). Technical standards and guidelines for myotonic dystrophy type 1 testing. Genet. Med. 11, 552-555. doi: 10.1097/GIM.0b013e3181abce0f.
    • (2009) Genet. Med. , vol.11 , pp. 552-555
    • Prior, T.W.1
  • 6
    • 79952127787 scopus 로고    scopus 로고
    • Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing
    • doi: 10.1097/PDM.0b013e3181efe290
    • Radvansky, J., Ficek, A., Minarik, G., Palffy, R., and Kadasi, L. (2011). Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagn. Mol. Pathol. 20, 48-51. doi: 10.1097/PDM.0b013e3181efe290.
    • (2011) Diagn. Mol. Pathol. , vol.20 , pp. 48-51
    • Radvansky, J.1    Ficek, A.2    Minarik, G.3    Palffy, R.4    Kadasi, L.5
  • 7
    • 84891504478 scopus 로고    scopus 로고
    • Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions
    • doi: 10.1007/s00415-012-6779-9
    • Santoro, M., Masciullo, M., Pietrobono, R., Conte, G., Modoni, A., Bianchi, M. L., et al. (2013). Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions. J. Neurol. 260, 1245-1257. doi: 10.1007/s00415-012-6779-9.
    • (2013) J. Neurol. , vol.260 , pp. 1245-1257
    • Santoro, M.1    Masciullo, M.2    Pietrobono, R.3    Conte, G.4    Modoni, A.5    Bianchi, M.L.6
  • 8
    • 38749141432 scopus 로고    scopus 로고
    • A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragileX (FMR1) gene in newborn and high-risk populations
    • doi: 10.2353/jmoldx.2008.070073
    • Tassone, F., Pan, R., Amiri, K., Taylor, A. K., and Hagerman, P. J. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragileX (FMR1) gene in newborn and high-risk populations. J. Mol. Diagn. 10, 43-49. doi: 10.2353/jmoldx.2008.070073.
    • (2008) J. Mol. Diagn. , vol.10 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3    Taylor, A.K.4    Hagerman, P.J.5
  • 9
    • 77950604502 scopus 로고    scopus 로고
    • The myotonic dystrophies: diagnosis and management
    • doi: 10.1136/jnnp.2008.158261
    • Turner, C., and Hilton-Jones, D. (2010). The myotonic dystrophies: diagnosis and management. J. Neurol. Neurosurg. Psychiatry 81, 358-367. doi: 10.1136/jnnp.2008.158261.
    • (2010) J. Neurol. Neurosurg. Psychiatry , vol.81 , pp. 358-367
    • Turner, C.1    Hilton-Jones, D.2
  • 10
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • doi: 10.1136/jmg.33.12.1022
    • Warner, J. P., Barron, L. H., Goudie, D., Kelly, K., Dow, D., Fitzpatrick, D. R., et al. (1996). A general method for the detection of large CAG repeat expansions by fluorescent PCR. J. Med. Genet. 33, 1022-1026. doi: 10.1136/jmg.33.12.1022.
    • (1996) J. Med. Genet. , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3    Kelly, K.4    Dow, D.5    Fitzpatrick, D.R.6
  • 11
    • 0037154068 scopus 로고    scopus 로고
    • Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature
    • doi: 10.1002/ajmg.10141
    • Zeesman, S., Carson, N., and Whelan D. T. (2002). Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. Am. J. Med. Genet. 107, 222-226. doi: 10.1002/ajmg.10141.
    • (2002) Am. J. Med. Genet. , vol.107 , pp. 222-226
    • Zeesman, S.1    Carson, N.2    Whelan, D.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.