BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 8006687)

  • 1. A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy.
    Gold R; Kress W; Bettecken T; Reichmann H; Müller CR
    J Neurol; 1994 Mar; 241(5):331-4. PubMed ID: 8006687
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.
    Toscano A; Vitiello L; Comi GP; Galvagni F; Miorin M; Prelle A; Fortunato F; Bardoni A; Mora M; Fiumara A
    Neuromuscul Disord; 1995 Nov; 5(6):475-81. PubMed ID: 8580729
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Enormous dystrophin in a patient with Becker muscular dystrophy.
    Angelini C; Beggs AH; Hoffman EP; Fanin M; Kunkel LM
    Neurology; 1990 May; 40(5):808-12. PubMed ID: 2158637
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.
    Nishio H; Takeshima Y; Narita N; Yanagawa H; Suzuki Y; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
    J Clin Invest; 1994 Sep; 94(3):1037-42. PubMed ID: 8083345
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.
    Hiraishi Y; Kato S; Ishihara T; Takano T
    J Med Genet; 1992 Dec; 29(12):897-901. PubMed ID: 1362223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
    Nicholson LV; Johnson MA; Bushby KM; Gardner-Medwin D; Curtis A; Ginjaar IB; den Dunnen JT; Welch JL; Butler TJ; Bakker E
    J Med Genet; 1993 Sep; 30(9):737-44. PubMed ID: 8411068
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.
    Bushby KM; Gardner-Medwin D; Nicholson LV; Johnson MA; Haggerty ID; Cleghorn NJ; Harris JB; Bhattacharya SS
    J Neurol; 1993 Feb; 240(2):105-12. PubMed ID: 8437017
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.
    Comi GP; Prelle A; Bresolin N; Moggio M; Bardoni A; Gallanti A; Vita G; Toscano A; Ferro MT; Bordoni A
    Brain; 1994 Feb; 117 ( Pt 1)():1-14. PubMed ID: 8149204
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
    Malhotra SB; Hart KA; Klamut HJ; Thomas NS; Bodrug SE; Burghes AH; Bobrow M; Harper PS; Thompson MW; Ray PN
    Science; 1988 Nov; 242(4879):755-9. PubMed ID: 3055295
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
    Winnard AV; Klein CJ; Coovert DD; Prior T; Papp A; Snyder P; Bulman DE; Ray PN; McAndrew P; King W
    Hum Mol Genet; 1993 Jun; 2(6):737-44. PubMed ID: 8353493
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.
    Simard LR; Gingras F; Delvoye N; Vanasse M; Melançon SB; Labuda D
    Hum Genet; 1992 Jun; 89(4):419-24. PubMed ID: 1618490
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
    Prior TW; Bartolo C; Papp AC; Snyder PJ; Sedra MS; Burghes AH; Mendell JR
    Hum Mutat; 1996; 7(1):72-5. PubMed ID: 8664908
    [No Abstract]   [Full Text] [Related]  

  • 13. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.
    Patria SY; Alimsardjono H; Nishio H; Takeshima Y; Nakamura H; Matsuo M
    Proc Assoc Am Physicians; 1996 Jul; 108(4):308-14. PubMed ID: 8863344
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.
    Wilton SD; Johnsen RD; Pedretti JR; Laing NG
    Am J Med Genet; 1993 Jun; 46(5):563-9. PubMed ID: 8322822
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Difference of new mutation rates in dystrophin gene between deletion and duplication mutation in Duchenne and Becker muscular dystrophy].
    Kawamura J; Kato S; Ishihara T; Hiraishi Y; Kawashiro T
    Rinsho Shinkeigaku; 1997 Mar; 37(3):212-7. PubMed ID: 9217419
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deletions in the 5' region of dystrophin and resulting phenotypes.
    Muntoni F; Gobbi P; Sewry C; Sherratt T; Taylor J; Sandhu SK; Abbs S; Roberts R; Hodgson SV; Bobrow M
    J Med Genet; 1994 Nov; 31(11):843-7. PubMed ID: 7853367
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture.
    Sklar RM; Beggs AH; Lev AA; Specht L; Shapiro F; Brown RH
    Neurology; 1990 Dec; 40(12):1854-8. PubMed ID: 1701042
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy.
    Yoshida K; Ikeda S; Nakamura A; Kagoshima M; Takeda S; Shoji S; Yanagisawa N
    Muscle Nerve; 1993 Nov; 16(11):1161-6. PubMed ID: 8413368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Duplication detection in Japanese Duchenne muscular dystrophy patients and identification of carriers with partial gene deletions using pulsed-field gel electrophoresis.
    Kodaira M; Hiyama K; Karakawa T; Kameo H; Satoh C
    Hum Genet; 1993 Oct; 92(3):237-43. PubMed ID: 8406431
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients.
    Shomrat R; Gluck E; Legum C; Shiloh Y
    Am J Med Genet; 1994 Feb; 49(4):369-73. PubMed ID: 8160727
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.