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305 related items for PubMed ID: 10533061

  • 1. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
    Tuffery-Giraud S, Chambert S, Demaille J, Claustres M.
    Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
    [Abstract] [Full Text] [Related]

  • 2. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
    [Abstract] [Full Text] [Related]

  • 3. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
    Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M.
    Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
    [Abstract] [Full Text] [Related]

  • 4. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM.
    Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
    [Abstract] [Full Text] [Related]

  • 5. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
    Graham IR, Hill VJ, Manoharan M, Inamati GB, Dickson G.
    J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
    [Abstract] [Full Text] [Related]

  • 6. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
    Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN.
    Neuromuscul Disord; 2009 Mar; 19(3):189-92. PubMed ID: 19230662
    [Abstract] [Full Text] [Related]

  • 7. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.
    Wilton SD, Johnsen RD, Pedretti JR, Laing NG.
    Am J Med Genet; 1993 Jun 15; 46(5):563-9. PubMed ID: 8322822
    [Abstract] [Full Text] [Related]

  • 8. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M.
    Hum Genet; 2003 Feb 15; 112(2):164-70. PubMed ID: 12522557
    [Abstract] [Full Text] [Related]

  • 9. Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.
    Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S, Claustres M.
    Eur J Hum Genet; 2005 Dec 15; 13(12):1254-60. PubMed ID: 16077730
    [Abstract] [Full Text] [Related]

  • 10. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.
    Patria SY, Alimsardjono H, Nishio H, Takeshima Y, Nakamura H, Matsuo M.
    Proc Assoc Am Physicians; 1996 Jul 15; 108(4):308-14. PubMed ID: 8863344
    [Abstract] [Full Text] [Related]

  • 11. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
    Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E.
    Hum Genet; 2001 Dec 15; 109(6):592-601. PubMed ID: 11810271
    [Abstract] [Full Text] [Related]

  • 12. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
    Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M.
    Hum Mutat; 1995 Dec 15; 6(2):126-35. PubMed ID: 7581396
    [Abstract] [Full Text] [Related]

  • 13. DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
    Hamed S, Sutherland-Smith A, Gorospe J, Kendrick-Jones J, Hoffman E.
    Clin Genet; 2005 Jul 15; 68(1):69-79. PubMed ID: 15952989
    [Abstract] [Full Text] [Related]

  • 14. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
    Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.
    Hum Mutat; 2007 Feb 15; 28(2):183-95. PubMed ID: 17041906
    [Abstract] [Full Text] [Related]

  • 15. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
    Sironi M, Corti S, Locatelli F, Cagliani R, Comi GP.
    Hum Mutat; 2001 Mar 15; 17(3):239. PubMed ID: 11241855
    [No Abstract] [Full Text] [Related]

  • 16. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
    Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M.
    J Clin Invest; 1997 Nov 01; 100(9):2204-10. PubMed ID: 9410897
    [Abstract] [Full Text] [Related]

  • 17. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C, Guella I, Duga S, Locatelli N, Paraboschi EM, Spreafico M, Afrasiabi A, Pechlaner C, Peyvandi F, Tenchini ML, Asselta R.
    Haematologica; 2008 Oct 01; 93(10):1505-13. PubMed ID: 18728029
    [Abstract] [Full Text] [Related]

  • 18. The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
    Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M.
    Neuromuscul Disord; 2004 Oct 01; 14(10):650-8. PubMed ID: 15351422
    [Abstract] [Full Text] [Related]

  • 19. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
    Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT.
    Hum Mutat; 2004 Jan 01; 23(1):57-66. PubMed ID: 14695533
    [Abstract] [Full Text] [Related]

  • 20. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
    Tuffery-Giraud S, Saquet C, Chambert S, Claustres M.
    Hum Mutat; 2003 Jun 01; 21(6):608-14. PubMed ID: 12754707
    [Abstract] [Full Text] [Related]

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