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Journal Abstract Search

171 related items for PubMed ID: 15811014

  • 1. X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
    Cox K, Gattas M, Harvey P, Dolphin C, Friend K, Yu S.
    Clin Genet; 2005 May; 67(5):441-2. PubMed ID: 15811014
    [No Abstract] [Full Text] [Related]

  • 2. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
    Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.
    Hum Genet; 2003 Feb; 112(2):135-42. PubMed ID: 12522554
    [Abstract] [Full Text] [Related]

  • 3. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
    Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2005 Mar; 15(3):245-52. PubMed ID: 15725586
    [Abstract] [Full Text] [Related]

  • 4. 'Long-term survival in X-linked myotubular myopathy'.
    Foye PM.
    Dev Med Child Neurol; 2007 Jun; 49(6):478. PubMed ID: 17518939
    [No Abstract] [Full Text] [Related]

  • 5. Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.
    Liewluck T, Raksadawan N, Limwongse C, Nishino I, Sangruchi T.
    J Med Assoc Thai; 2006 Jan; 89(1):99-105. PubMed ID: 16583589
    [Abstract] [Full Text] [Related]

  • 6. X-linked myotubular myopathy: report of a case with novel mutation.
    Hortobágyi T, Szabó H, Kovács KS, Bódi I, Bereg E, Katona M, Biancalana V, Túri S, Sztriha L.
    J Child Neurol; 2007 Apr; 22(4):447-51. PubMed ID: 17621527
    [Abstract] [Full Text] [Related]

  • 7. Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
    de Goede CG, Kelsey A, Kingston H, Tomlin PI, Hughes MI.
    Dev Med Child Neurol; 2005 Dec; 47(12):835-7. PubMed ID: 16288675
    [Abstract] [Full Text] [Related]

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  • 10. MTM1 mutations in X-linked myotubular myopathy.
    Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.
    Hum Mutat; 2000 Dec; 15(5):393-409. PubMed ID: 10790201
    [Abstract] [Full Text] [Related]

  • 11. X-linked myotubular myopathy with probable germline mosaicism.
    Menon K, Rao TV, Bhat BA, El Amin EO.
    Clin Neuropathol; 2002 Dec; 21(6):265-8. PubMed ID: 12489675
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  • 13. X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.
    Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.
    Neuromuscul Disord; 2012 May; 22(5):384-8. PubMed ID: 22153990
    [Abstract] [Full Text] [Related]

  • 14. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
    Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL.
    Hum Mutat; 1999 May; 14(4):320-5. PubMed ID: 10502779
    [Abstract] [Full Text] [Related]

  • 15. Genetic testing for myotubular myopathy despite muscle biopsy without centrally located nuclei.
    Foye PM.
    Dev Med Child Neurol; 2006 Dec; 48(12):1011. PubMed ID: 17109798
    [No Abstract] [Full Text] [Related]

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  • 17. Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
    Lee IC, Su PH, Chen JY, Hu JM, Lu JJ, Ng YY.
    J Child Neurol; 2012 Jan; 27(1):99-104. PubMed ID: 21881007
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  • 19. Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.
    Copley LM, Zhao WD, Kopacz K, Herman GE, Kioschis P, Poustka A, Taudien S, Platzer M.
    Am J Med Genet; 2002 Jan 22; 107(3):256-8. PubMed ID: 11807911
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