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Journal Abstract Search

631 related items for PubMed ID: 17041906

  • 1. 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; 28(2):183-95. PubMed ID: 17041906
    [Abstract] [Full Text] [Related]

  • 2. 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.
    Hum Mutat; 2008 Sep; 29(9):1100-7. PubMed ID: 18752307
    [Abstract] [Full Text] [Related]

  • 3. 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; 23(1):57-66. PubMed ID: 14695533
    [Abstract] [Full Text] [Related]

  • 4. 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; 19(11):749-53. PubMed ID: 19783145
    [Abstract] [Full Text] [Related]

  • 5. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
    Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M.
    Hum Mutat; 2009 Jun; 30(6):934-45. PubMed ID: 19367636
    [Abstract] [Full Text] [Related]

  • 6. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
    Eraslan S, Kayserili H, Apak MY, Kirdar B.
    Eur J Hum Genet; 1999 Jun; 7(7):765-70. PubMed ID: 10573008
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  • 7. [Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].
    Shen BC, Zhang C, Sun XF, Zhang HM, Li SY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):460-3. PubMed ID: 17680544
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  • 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; 13(12):1254-60. PubMed ID: 16077730
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.
    Kesari A, Pirra LN, Bremadesam L, McIntyre O, Gordon E, Dubrovsky AL, Viswanathan V, Hoffman EP.
    Hum Mutat; 2008 May; 29(5):728-37. PubMed ID: 18348289
    [Abstract] [Full Text] [Related]

  • 12. 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; 14(10):650-8. PubMed ID: 15351422
    [Abstract] [Full Text] [Related]

  • 13. [From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].
    den Dunnen JT, de Visser M, Bakker E.
    Ned Tijdschr Geneeskd; 2002 Feb 23; 146(8):364-7. PubMed ID: 11887623
    [Abstract] [Full Text] [Related]

  • 14. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
    Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M.
    Hum Mutat; 2007 Feb 23; 28(2):196-202. PubMed ID: 17041910
    [Abstract] [Full Text] [Related]

  • 15. [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 23; 26(3):318-22. PubMed ID: 19504448
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  • 17. Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
    Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB.
    Neuromuscul Disord; 2009 Jun 23; 19(6):383-90. PubMed ID: 19409785
    [Abstract] [Full Text] [Related]

  • 18. Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
    Muscarella LA, Piemontese MR, Barbano R, Fazio A, Guarnieri V, Quattrone A, Zelante L.
    Biomol Eng; 2007 Jun 23; 24(2):231-6. PubMed ID: 17145200
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  • 20. Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients.
    Anand A, Prabhakar S, Kaul D.
    Neurol India; 1999 Sep 23; 47(3):218-23. PubMed ID: 10514583
    [Abstract] [Full Text] [Related]

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