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Journal Abstract Search


146 related items for PubMed ID: 11536268

  • 1. Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
    Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M, Gatti R.
    Prenat Diagn; 2001 Aug; 21(8):668-71. PubMed ID: 11536268
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  • 6. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
    Seeman P, Paderova K, Benes V, Sistermans EA.
    Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921
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  • 10. MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication.
    Takanashi J, Sugita K, Tanabe Y, Nagasawa K, Inoue K, Osaka H, Kohno Y.
    AJNR Am J Neuroradiol; 1999 Feb; 20(10):1822-8. PubMed ID: 10588103
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  • 13. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.
    Woodward K, Cundall M, Palmer R, Surtees R, Winter RM, Malcolm S.
    Am J Med Genet A; 2003 Apr 01; 118A(1):15-24. PubMed ID: 12605435
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  • 14. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
    Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S.
    Am J Hum Genet; 2000 Jul 01; 67(1):14-22. PubMed ID: 10827108
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  • 17. Prenatal diagnosis of Pelizaeus-Merzbacher disease.
    Garbern J, Hobson G.
    Prenat Diagn; 2002 Nov 01; 22(11):1033-5. PubMed ID: 12424770
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  • 18. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.
    Chin Med J (Engl); 2008 Sep 05; 121(17):1638-42. PubMed ID: 19024090
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