메뉴 건너뛰기




Volumn 33, Issue 3, 2012, Pages 572-581

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

Author keywords

Diagnostic biomarker; DMD mutations; Fluidic cards; RNA analysis

Indexed keywords

BIOLOGICAL MARKER; DYSTROPHIN; MESSENGER RNA;

EID: 84857051254     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22017     Document Type: Article
Times cited : (21)

References (28)
  • 2
    • 2942523954 scopus 로고    scopus 로고
    • Identification of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
    • Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM. 2001. Identification of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2:17.
    • (2001) BMC Genet , vol.2 , pp. 17
    • Bennett, R.R.1    den Dunnen, J.2    O'Brien, K.F.3    Darras, B.T.4    Kunkel, L.M.5
  • 5
    • 77953073542 scopus 로고    scopus 로고
    • Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization
    • Bovolenta M, Rimessi P, Dolcini B, Ravani A, Ferlini A, Gualandi F. 2010. Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization. Clin Genet 77:503-506.
    • (2010) Clin Genet , vol.77 , pp. 503-506
    • Bovolenta, M.1    Rimessi, P.2    Dolcini, B.3    Ravani, A.4    Ferlini, A.5    Gualandi, F.6
  • 6
    • 67650400353 scopus 로고    scopus 로고
    • Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells
    • Chaouch S, Mouly V, Goyenvalle A, Vulin A, Mamchaoui K, Negroni E, Di Santo J, Butler-Browne G, Torrente Y, Garcia L, Furling D. 2009. Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. Hum Gene Ther 20:784-790.
    • (2009) Hum Gene Ther , vol.20 , pp. 784-790
    • Chaouch, S.1    Mouly, V.2    Goyenvalle, A.3    Vulin, A.4    Mamchaoui, K.5    Negroni, E.6    Di Santo, J.7    Butler-Browne, G.8    Torrente, Y.9    Garcia, L.10    Furling, D.11
  • 8
    • 51549110163 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    • del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. 2008. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 29:1100-1107.
    • (2008) Hum Mutat , vol.29 , pp. 1100-1107
    • del Gaudio, D.1    Yang, Y.2    Boggs, B.A.3    Schmitt, E.S.4    Lee, J.A.5    Sahoo, T.6    Pham, H.T.7    Wiszniewska, J.8    Chinault, A.C.9    Beaudet, A.L.10    Eng, C.M.11
  • 16
    • 30344482510 scopus 로고    scopus 로고
    • Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection
    • Hamed SA, Hoffman EP. 2006. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. Am J Med Genet B Neuropsychiatr Genet 141B:44-50.
    • (2006) Am J Med Genet B Neuropsychiatr Genet , vol.141 B , pp. 44-50
    • Hamed, S.A.1
  • 18
    • 15444370412 scopus 로고    scopus 로고
    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
    • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. 2005. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35.
    • (2005) Neurogenetics , vol.6 , pp. 29-35
    • Janssen, B.1    Hartmann, C.2    Scholz, V.3    Jauch, A.4    Zschocke, J.5
  • 23
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. 1988. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 24
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    • Muntoni F, Torelli S, Ferlini A. 2003. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2:731-740.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 27
    • 0029738143 scopus 로고    scopus 로고
    • Stability of the human dystrophin transcript in muscle
    • Tennyson CN, Shi Q, Worton RG. 1996. Stability of the human dystrophin transcript in muscle. Nucleic Acids Res 24:3059-3064.
    • (1996) Nucleic Acids Res , vol.24 , pp. 3059-3064
    • Tennyson, C.N.1    Shi, Q.2    Worton, R.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.