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136 related items for PubMed ID: 8364587

  • 1. Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
    Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartolo C, Mendell JR.
    Hum Mutat; 1993; 2(3):192-5. PubMed ID: 8364587
    [Abstract] [Full Text] [Related]

  • 2. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
    Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR.
    Nat Genet; 1993 Aug; 4(4):357-60. PubMed ID: 8401582
    [Abstract] [Full Text] [Related]

  • 3. Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.
    Prior TW, Papp AC, Snyder PJ, Sedra MS, Western LM, Bartolo C, Moxley RT, Mendell JR.
    Am J Med Genet; 1994 Mar 01; 50(1):68-73. PubMed ID: 8160755
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.
    Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartello C, Mendell JR.
    Hum Mol Genet; 1993 Mar 31; 2(3):311-3. PubMed ID: 8499922
    [Abstract] [Full Text] [Related]

  • 6. 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 31; 91(5):1862-7. PubMed ID: 8387534
    [Abstract] [Full Text] [Related]

  • 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 May 31; 6(2):126-35. PubMed ID: 7581396
    [Abstract] [Full Text] [Related]

  • 8. Detection of an exon 53 polymorphism in the dystrophin gene.
    Prior TW, Papp AC, Snyder PJ, Sedra MS.
    Hum Genet; 1993 Oct 01; 92(3):302-4. PubMed ID: 8104863
    [Abstract] [Full Text] [Related]

  • 9. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
    Ashton EJ, Yau SC, Deans ZC, Abbs SJ.
    Eur J Hum Genet; 2008 Jan 01; 16(1):53-61. PubMed ID: 17726484
    [Abstract] [Full Text] [Related]

  • 10. [Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene].
    Sheng WL, Chen JY, Pan SY, Zhang C, Liu ZL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct 01; 20(5):376-80. PubMed ID: 14556187
    [Abstract] [Full Text] [Related]

  • 11. [Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications].
    Shen BC, Zhang C, Chen SL, Sun XF, Li SY, Yao XL, Wang SH, Lu XL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug 01; 23(4):392-6. PubMed ID: 16883524
    [Abstract] [Full Text] [Related]

  • 12. Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testing.
    Prior TW, Wenger GD, Papp AC, Snyder PJ, Sedra MS, Bartolo C, Moore JW, Highsmith WE.
    Hum Mutat; 1995 Aug 01; 5(3):263-8. PubMed ID: 7599638
    [Abstract] [Full Text] [Related]

  • 13. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
    Buzin CH, Feng J, Yan J, Scaringe W, Liu Q, den Dunnen J, Mendell JR, Sommer SS.
    Hum Mutat; 2005 Feb 01; 25(2):177-88. PubMed ID: 15643612
    [Abstract] [Full Text] [Related]

  • 14. Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.
    Kneppers AL, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJ, Bakker E.
    Hum Mutat; 1995 Feb 01; 5(3):235-42. PubMed ID: 7599634
    [Abstract] [Full Text] [Related]

  • 15. Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
    Dubourg C, Odent S, Fergelot P, Le Gall JY, David V, Blayau M.
    Hum Mutat; 1999 Feb 01; 13(2):173. PubMed ID: 10094565
    [Abstract] [Full Text] [Related]

  • 16. Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
    Sedlácková J, Vondrácek P, Hermanová M, Zámecník J, Hrubá Z, Haberlová J, Kraus J, Maríková T, Hedvicáková P, Vohánka S, Fajkusová L.
    Neuromuscul Disord; 2009 Nov 01; 19(11):749-53. PubMed ID: 19783145
    [Abstract] [Full Text] [Related]

  • 17. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
    Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 01; 26(3):318-22. PubMed ID: 19504448
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. 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]

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