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Journal Abstract Search

276 related items for PubMed ID: 8421476

  • 1. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.
    Shelbourne P, Davies J, Buxton J, Anvret M, Blennow E, Bonduelle M, Schmedding E, Glass I, Lindenbaum R, Lane R.
    N Engl J Med; 1993 Feb 18; 328(7):471-5. PubMed ID: 8421476
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  • 5. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.
    Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B.
    Nature; 1992 Feb 06; 355(6360):547-8. PubMed ID: 1346924
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  • 6. Myotonic dystrophy gene analysis in affected Israeli families.
    Achiron A, Magal N, Shem-Tov N, Noy S, Shohat M, Gadoth N.
    Isr J Med Sci; 1994 Aug 06; 30(8):622-5. PubMed ID: 8045745
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  • 7. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).
    Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B.
    Neuromuscul Disord; 2004 Apr 06; 14(4):274-83. PubMed ID: 15019706
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  • 8. Congenital myotonic dystrophy: molecular diagnosis and clinical study.
    Hojo K, Yamagata H, Moji H, Fujita T, Miki T, Fujimura M, Kidoguchi K.
    Am J Perinatol; 1995 May 06; 12(3):195-200. PubMed ID: 7612095
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  • 9. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.
    Thornton CA, Johnson K, Moxley RT.
    Ann Neurol; 1994 Jan 06; 35(1):104-7. PubMed ID: 8285579
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  • 10. [Direct genotypic analysis of myotonic dystrophy: detection of an unstable DNA fragment in carriers].
    Cobo AM, Martorell L, López de Munain A, Basauri B, Martínez JM, Johnson K, Baiget M.
    Med Clin (Barc); 1993 Mar 13; 100(10):361-4. PubMed ID: 8097270
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  • 11. Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.
    Hunter AG, Jacob P, O'Hoy K, MacDonald I, Mettler G, Tsilfidis C, Korneluk RG.
    Am J Med Genet; 1993 Feb 01; 45(3):401-7. PubMed ID: 8434633
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  • 13. Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy.
    Mahadevan MS, Foitzik MA, Surh LC, Korneluk RG.
    Genomics; 1993 Feb 01; 15(2):446-8. PubMed ID: 8449517
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  • 14. [Correlation between degrees of the CTG repeat expansion and clinical features of myotonic dystrophy].
    Eguchi I, Koike R, Onodera O, Tanaka K, Kondo H, Tsuji S.
    Rinsho Shinkeigaku; 1994 Feb 01; 34(2):118-23. PubMed ID: 8194263
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  • 15. Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: a retrospective study in a French family.
    Lucotte G, Berriche S, David F, Mariotti M, Turpin JC.
    Genet Couns; 1994 Feb 01; 5(2):171-4. PubMed ID: 7917127
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  • 16. [DNA diagnosis of myotonic dystrophy in a family].
    Kihara K, Yamagata H, Miki T, Ogihara T.
    Rinsho Shinkeigaku; 1993 Mar 01; 33(3):266-70. PubMed ID: 8334788
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  • 19. [DNA diagnosis in myotonic dystrophy].
    Tachi N.
    Hokkaido Igaku Zasshi; 1996 Jan 01; 71(1):3-8. PubMed ID: 8727368
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  • 20. A molecular protocol for diagnosing myotonic dystrophy.
    Guida M, Marger RS, Papp AC, Snyder PJ, Sedra MS, Kissel JT, Mendell JR, Prior TW.
    Clin Chem; 1995 Jan 01; 41(1):69-72. PubMed ID: 7813083
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