BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

315 related articles for article (PubMed ID: 8950674)

  • 1. Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
    Roest PA; Bout M; van der Tuijn AC; Ginjaar IB; Bakker E; Hogervorst FB; van Ommen GJ; den Dunnen JT
    J Med Genet; 1996 Nov; 33(11):935-9. PubMed ID: 8950674
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
    Wilton SD; Chandler DC; Kakulas BA; Laing NG
    Hum Mutat; 1994; 3(2):133-40. PubMed ID: 8199594
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
    Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
    Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients.
    Chaturvedi LS; Mukherjee M; Srivastava S; Mittal RD; Mittal B
    Exp Mol Med; 2001 Dec; 33(4):251-6. PubMed ID: 11795488
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
    Lukás Z; Vojtísková M; Fajkusová L; Bednarík J; Kadanka Z; Hájek J; Hermanová M; Vohánka S; Vytopil M
    Cesk Patol; 2001 Nov; 37(4):137-45. PubMed ID: 11813630
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
    Tuffery S; Lenk U; Roberts RG; Coubes C; Demaille J; Claustres M
    Hum Mutat; 1995; 6(2):126-35. PubMed ID: 7581396
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
    Narita N; Nishio H; Kitoh Y; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
    J Clin Invest; 1993 May; 91(5):1862-7. PubMed ID: 8387534
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.
    Tuffery S; Bareil C; Demaille J; Claustres M
    Eur J Hum Genet; 1996; 4(3):143-52. PubMed ID: 8840114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
    Gangopadhyay SB; Sherratt TG; Heckmatt JZ; Dubowitz V; Miller G; Shokeir M; Ray PN; Strong PN; Worton RG
    Am J Hum Genet; 1992 Sep; 51(3):562-70. PubMed ID: 1496988
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations.
    Roest PA; Roberts RG; van der Tuijn AC; Heikoop JC; van Ommen GJ; den Dunnen JT
    Neuromuscul Disord; 1993; 3(5-6):391-4. PubMed ID: 8186681
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel splice site mutation in a Becker muscular dystrophy patient.
    Bartolo C; Papp AC; Snyder PJ; Sedra MS; Burghes AH; Hall CD; Mendell JR; Prior TW
    J Med Genet; 1996 Apr; 33(4):324-7. PubMed ID: 8730289
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
    Graham IR; Hill VJ; Manoharan M; Inamati GB; Dickson G
    J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.
    Lenk U; Hanke R; Thiele H; Speer A
    Hum Mol Genet; 1993 Nov; 2(11):1877-81. PubMed ID: 8281150
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.
    Xie Z; Lu Y; Liu C; Sun C; Yu J; Ling C; Luan X; Wang W; Wang L; Liang Y; Luo Q; Meng L; Wang Z; Yuan Y
    J Clin Lab Anal; 2023 Nov; 37(21-22):e24987. PubMed ID: 37968799
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M; Takeshima Y; Wada H; Nakamura H; Matsuo M
    Hum Genet; 2003 Feb; 112(2):164-70. PubMed ID: 12522557
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
    Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
    Ann Biol Clin (Paris); 1999; 57(4):417-26. PubMed ID: 10432364
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.
    Adachi K; Takeshima Y; Wada H; Yagi M; Nakamura H; Matsuo M
    Pediatr Res; 2003 Jan; 53(1):125-31. PubMed ID: 12508091
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
    Tuffery S; Chambert S; Bareil C; Sarda P; Coubes C; Echenne B; Demaille J; Claustres M
    Hum Genet; 1998 Mar; 102(3):334-42. PubMed ID: 9544849
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.