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Journal Abstract Search

312 related items for PubMed ID: 8950674

  • 1. Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
    Roest PA, Bout M, van der Tuijn AC, Ginjaar IB, Bakker E, Hogervorst FB, van Ommen GJ, den Dunnen JT.
    J Med Genet; 1996 Nov; 33(11):935-9. PubMed ID: 8950674
    [Abstract] [Full Text] [Related]

  • 2. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
    Wilton SD, Chandler DC, Kakulas BA, Laing NG.
    Hum Mutat; 1994 Nov; 3(2):133-40. PubMed ID: 8199594
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  • 3. 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 Nov; 14(5):359-68. PubMed ID: 10533061
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  • 4. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients.
    Chaturvedi LS, Mukherjee M, Srivastava S, Mittal RD, Mittal B.
    Exp Mol Med; 2001 Dec 31; 33(4):251-6. PubMed ID: 11795488
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  • 5. 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
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  • 6. [Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
    Lukás Z, Vojtísková M, Fajkusová L, Bednarík J, Kadanka Z, Hájek J, Hermanová M, Vohánka S, Vytopil M.
    Cesk Patol; 2001 Nov 15; 37(4):137-45. PubMed ID: 11813630
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  • 7. 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 Nov 15; 6(2):126-35. PubMed ID: 7581396
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  • 8. Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
    Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M.
    J Clin Invest; 1993 May 15; 91(5):1862-7. PubMed ID: 8387534
    [Abstract] [Full Text] [Related]

  • 9. Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.
    Tuffery S, Bareil C, Demaille J, Claustres M.
    Eur J Hum Genet; 1996 May 15; 4(3):143-52. PubMed ID: 8840114
    [Abstract] [Full Text] [Related]

  • 10. Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
    Gangopadhyay SB, Sherratt TG, Heckmatt JZ, Dubowitz V, Miller G, Shokeir M, Ray PN, Strong PN, Worton RG.
    Am J Hum Genet; 1992 Sep 15; 51(3):562-70. PubMed ID: 1496988
    [Abstract] [Full Text] [Related]

  • 11. Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations.
    Roest PA, Roberts RG, van der Tuijn AC, Heikoop JC, van Ommen GJ, den Dunnen JT.
    Neuromuscul Disord; 1993 Sep 15; 3(5-6):391-4. PubMed ID: 8186681
    [Abstract] [Full Text] [Related]

  • 12. A novel splice site mutation in a Becker muscular dystrophy patient.
    Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Hall CD, Mendell JR, Prior TW.
    J Med Genet; 1996 Apr 15; 33(4):324-7. PubMed ID: 8730289
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  • 15. Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.
    Xie Z, Lu Y, Liu C, Sun C, Yu J, Ling C, Luan X, Wang W, Wang L, Liang Y, Luo Q, Meng L, Wang Z, Yuan Y.
    J Clin Lab Anal; 2023 Nov 15; 37(21-22):e24987. PubMed ID: 37968799
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  • 16. 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]

  • 17. [Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
    Tuffery-Giraud S, Chambert S, Demaille J, Claustres M.
    Ann Biol Clin (Paris); 1999 Feb 15; 57(4):417-26. PubMed ID: 10432364
    [Abstract] [Full Text] [Related]

  • 18. Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.
    Adachi K, Takeshima Y, Wada H, Yagi M, Nakamura H, Matsuo M.
    Pediatr Res; 2003 Jan 15; 53(1):125-31. PubMed ID: 12508091
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