BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

434 related articles for article (PubMed ID: 15019706)

  • 1. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).
    Sallinen R; Vihola A; Bachinski LL; Huoponen K; Haapasalo H; Hackman P; Zhang S; Sirito M; Kalimo H; Meola G; Horelli-Kuitunen N; Wessman M; Krahe R; Udd B
    Neuromuscul Disord; 2004 Apr; 14(4):274-83. PubMed ID: 15019706
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
    Liquori CL; Ricker K; Moseley ML; Jacobsen JF; Kress W; Naylor SL; Day JW; Ranum LP
    Science; 2001 Aug; 293(5531):864-7. PubMed ID: 11486088
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.
    Bonifazi E; Vallo L; Giardina E; Botta A; Novelli G
    Diagn Mol Pathol; 2004 Sep; 13(3):164-6. PubMed ID: 15322428
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
    Vallo L; Bonifazi E; Borgiani P; Novelli G; Botta A
    Mol Cell Probes; 2005 Feb; 19(1):71-4. PubMed ID: 15652222
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
    Bachinski LL; Udd B; Meola G; Sansone V; Bassez G; Eymard B; Thornton CA; Moxley RT; Harper PS; Rogers MT; Jurkat-Rott K; Lehmann-Horn F; Wieser T; Gamez J; Navarro C; Bottani A; Kohler A; Shriver MD; Sallinen R; Wessman M; Zhang S; Wright FA; Krahe R
    Am J Hum Genet; 2003 Oct; 73(4):835-48. PubMed ID: 12970845
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers.
    Eriksson M; Hedberg B; Carey N; Ansved T
    Biochem Biophys Res Commun; 2001 Sep; 286(5):1177-82. PubMed ID: 11527424
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Myotonic dystrophy].
    Nanba E
    Nihon Rinsho; 2005 Mar; 63(3):429-33. PubMed ID: 15773341
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2.
    Toth C; Dunham C; Suchowersky O; Parboosingh J; Brownell K
    Muscle Nerve; 2007 Feb; 35(2):259-64. PubMed ID: 17068784
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity for CCTG mutation in myotonic dystrophy type 2.
    Schoser BG; Kress W; Walter MC; Halliger-Keller B; Lochmüller H; Ricker K
    Brain; 2004 Aug; 127(Pt 8):1868-77. PubMed ID: 15231584
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
    Cho DH; Tapscott SJ
    Biochim Biophys Acta; 2007 Feb; 1772(2):195-204. PubMed ID: 16876389
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs.
    Radvansky J; Ficek A; Kadasi L
    Mol Cell Probes; 2011 Aug; 25(4):182-5. PubMed ID: 21550396
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
    Santoro M; Modoni A; Masciullo M; Gidaro T; Broccolini A; Ricci E; Tonali PA; Silvestri G
    Exp Mol Pathol; 2010 Oct; 89(2):158-68. PubMed ID: 20685272
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of repetitive regions in myotonic dystrophy type 1 and 2.
    Carson NL
    Curr Protoc Hum Genet; 2009 Apr; Chapter 9():Unit 9.6. PubMed ID: 19360700
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy.
    Cardani R; Mancinelli E; Sansone V; Rotondo G; Meola G
    Eur J Histochem; 2004; 48(4):437-42. PubMed ID: 15718211
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.
    Thornton CA; Johnson K; Moxley RT
    Ann Neurol; 1994 Jan; 35(1):104-7. PubMed ID: 8285579
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.
    Frisch R; Singleton KR; Moses PA; Gonzalez IL; Carango P; Marks HG; Funanage VL
    Mol Genet Metab; 2001; 74(1-2):281-91. PubMed ID: 11592825
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
    Le Ber I; Martinez M; Campion D; Laquerrière A; Bétard C; Bassez G; Girard C; Saugier-Veber P; Raux G; Sergeant N; Magnier P; Maisonobe T; Eymard B; Duyckaerts C; Delacourte A; Frebourg T; Hannequin D
    Brain; 2004 Sep; 127(Pt 9):1979-92. PubMed ID: 15215218
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).
    Botta A; Caldarola S; Vallo L; Bonifazi E; Fruci D; Gullotta F; Massa R; Novelli G; Loreni F
    Biochim Biophys Acta; 2006 Mar; 1762(3):329-34. PubMed ID: 16376058
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Myotonic dystrophies.
    Huang CC; Kuo HC
    Chang Gung Med J; 2005 Aug; 28(8):517-26. PubMed ID: 16265841
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion].
    Zhao XP; Xie HJ; Zheng HM; Yu ZL; Cui Y; Ding SJ; Ren DM; Tang GM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):459-62. PubMed ID: 15476170
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.