BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

547 related articles for article (PubMed ID: 17621527)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Myotubular myopathy. Case report and review of the literature].
    Kovács SK; Korcsik J; Szabó H; Bódi I; Katona M; Bereg E; Endreffy E; Túri S; Hortobágyi T; Sztriha L
    Orv Hetil; 2007 Sep; 148(37):1757-62. PubMed ID: 17827085
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
    Bevilacqua JA; Bitoun M; Biancalana V; Oldfors A; Stoltenburg G; Claeys KG; Lacène E; Brochier G; Manéré L; Laforêt P; Eymard B; Guicheney P; Fardeau M; Romero NB
    Acta Neuropathol; 2009 Mar; 117(3):283-91. PubMed ID: 19084976
    [TBL] [Abstract][Full Text] [Related]  

  • 6. X-linked myotubular myopathy with probable germline mosaicism.
    Menon K; Rao TV; Bhat BA; El Amin EO
    Clin Neuropathol; 2002; 21(6):265-8. PubMed ID: 12489675
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 14(4):320-5. PubMed ID: 10502779
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 15(5):393-409. PubMed ID: 10790201
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
    Tosch V; Vasli N; Kretz C; Nicot AS; Gasnier C; Dondaine N; Oriot D; Barth M; Puissant H; Romero NB; Bönnemann CG; Heller B; Duval G; Biancalana V; Laporte J
    Neuromuscul Disord; 2010 Jun; 20(6):375-81. PubMed ID: 20434914
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
    Pierson CR; Agrawal PB; Blasko J; Beggs AH
    Neuromuscul Disord; 2007 Jul; 17(7):562-8. PubMed ID: 17537630
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked centronuclear myopathy.
    Fan HC; Lee CM; Harn HJ; Cheng SN; Yuh YS
    Am J Perinatol; 2003 May; 20(4):173-9. PubMed ID: 12874727
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Myotubular myopathy].
    Guiraud-Chaumeil C; Laporte J; Mandel JL; Warter JM
    Rev Neurol (Paris); 2000 Nov; 156(11):960-4. PubMed ID: 11119047
    [TBL] [Abstract][Full Text] [Related]  

  • 16. '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]  

  • 17. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
    Tanner SM; Laporte J; Guiraud-Chaumeil C; Liechti-Gallati S
    Hum Mutat; 1998; 11(1):62-8. PubMed ID: 9450905
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Centronuclear (myotubular) myopathy.
    Jungbluth H; Wallgren-Pettersson C; Laporte J
    Orphanet J Rare Dis; 2008 Sep; 3():26. PubMed ID: 18817572
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene expression analyses in X-linked myotubular myopathy.
    Noguchi S; Fujita M; Murayama K; Kurokawa R; Nishino I
    Neurology; 2005 Sep; 65(5):732-7. PubMed ID: 16157907
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 28.