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Journal Abstract Search

369 related items for PubMed ID: 7818265

  • 1. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
    Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y.
    Ann Neurol; 1995 Jan; 37(1):99-101. PubMed ID: 7818265
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  • 2. [Recent progress, genetic diagnosis and its problem on congenital muscular dystrophies (Fukuyama and non-Fukuyama types)].
    Toda T.
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1419-21. PubMed ID: 8752416
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  • 3. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
    Yoshioka M.
    Brain Dev; 2009 Jun; 31(6):419-22. PubMed ID: 18834683
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  • 4. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.
    Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M].
    Nat Genet; 1993 Nov; 5(3):283-6. PubMed ID: 8275093
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  • 7. [Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)].
    Toda T, Kobayashi K.
    Nihon Rinsho; 1997 Dec; 55(12):3169-75. PubMed ID: 9436430
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  • 10. A case study on Walker-Warburg syndrome.
    Kerr SL.
    Adv Neonatal Care; 2010 Feb; 10(1):21-4. PubMed ID: 20150777
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  • 13. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
    Yoshioka M, Kuroki S.
    Am J Med Genet; 1994 Nov 15; 53(3):245-50. PubMed ID: 7856660
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  • 15. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
    Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T.
    Nature; 1998 Jul 23; 394(6691):388-92. PubMed ID: 9690476
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  • 16. Diagnostic criteria for Walker-Warburg syndrome.
    Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M.
    Am J Med Genet; 1989 Feb 23; 32(2):195-210. PubMed ID: 2494887
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  • 17. Walker-Warburg syndrome.
    Vajsar J, Schachter H.
    Orphanet J Rare Dis; 2006 Aug 03; 1():29. PubMed ID: 16887026
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  • 20. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
    Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG.
    Am J Hum Genet; 2002 Nov 03; 71(5):1033-43. PubMed ID: 12369018
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