BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

447 related articles for article (PubMed ID: 16288675)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

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

  • 6. [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]  

  • 7. Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
    Gurgel-Giannetti J; Zanoteli E; de Castro Concentino EL; Abath Neto O; Pesquero JB; Reed UC; Vainzof M
    Neuromuscul Disord; 2012 Jun; 22(6):541-5. PubMed ID: 22264517
    [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. 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]  

  • 10. [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]  

  • 11. X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
    Schara U; Kress W; Tücke J; Mortier W
    Neurology; 2003 Apr; 60(8):1363-5. PubMed ID: 12707446
    [TBL] [Abstract][Full Text] [Related]  

  • 12. '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]  

  • 13. 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]  

  • 14. "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]  

  • 15. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
    Herman GE; Kopacz K; Zhao W; Mills PL; Metzenberg A; Das S
    Hum Mutat; 2002 Feb; 19(2):114-21. PubMed ID: 11793470
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
    Abath Neto O; Silva MR; Martins Cde A; Oliveira Ade S; Reed UC; Biancalana V; Pesquero JB; Laporte J; Zanoteli E
    Pediatr Neurol; 2016 May; 58():107-12. PubMed ID: 26995067
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 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. Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
    Hoffjan S; Thiels C; Vorgerd M; Neuen-Jacob E; Epplen JT; Kress W
    Neuromuscul Disord; 2006 Nov; 16(11):749-53. PubMed ID: 17005396
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked myotubular myopathy and chylothorax.
    Smets K
    Neuromuscul Disord; 2008 Feb; 18(2):183-4. PubMed ID: 18077167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.