BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

581 related articles for article (PubMed ID: 19230662)

  • 1. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
    Baskin B; Banwell B; Khater RA; Hawkins C; Ray PN
    Neuromuscul Disord; 2009 Mar; 19(3):189-92. PubMed ID: 19230662
    [TBL] [Abstract][Full Text] [Related]  

  • 2. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
    J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
    [TBL] [Abstract][Full Text] [Related]  

  • 3. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
    Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
    Tuffery-Giraud S; Saquet C; Chambert S; Claustres M
    Hum Mutat; 2003 Jun; 21(6):608-14. PubMed ID: 12754707
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
    Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
    Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.
    Ishibashi K; Takeshima Y; Yagi M; Nishiyama A; Matsuo M
    Kobe J Med Sci; 2006; 52(3-4):61-75. PubMed ID: 16849873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
    Müller JS; Stucka R; Neudecker S; Zierz S; Schmidt C; Huebner A; Lochmüller H; Abicht A
    Neurology; 2005 Aug; 65(3):463-5. PubMed ID: 16087917
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online.
    Ikezawa M; Nishino I; Goto Y; Miike T; Nonaka I
    Hum Mutat; 1999; 13(2):170. PubMed ID: 10094556
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
    Hamed S; Sutherland-Smith A; Gorospe J; Kendrick-Jones J; Hoffman E
    Clin Genet; 2005 Jul; 68(1):69-79. PubMed ID: 15952989
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.
    Suminaga R; Takeshima Y; Adachi K; Yagi M; Nakamura H; Matsuo M
    J Hum Genet; 2002; 47(4):196-201. PubMed ID: 12166656
    [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. Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene.
    Tunteeratum A; Witoonpanich R; Phudhichareonrat S; Eu-ahsunthornwattana J; Pingsuthiwong S; Srichan K; Sura T
    J Clin Neuromuscul Dis; 2009 Sep; 11(1):49-53. PubMed ID: 19730022
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
    Meregalli M; Maciotta S; Angeloni V; Torrente Y
    BMC Med Genet; 2016 Aug; 17(1):55. PubMed ID: 27515321
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.
    Hoogerwaard EM; Ginjaar IB; Bakker E; de Visser M
    Neurology; 2005 Dec; 65(12):1984-6. PubMed ID: 16380627
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
    Sironi M; Corti S; Locatelli F; Cagliani R; Comi GP
    Hum Mutat; 2001 Mar; 17(3):239. PubMed ID: 11241855
    [No Abstract]   [Full Text] [Related]  

  • 19. Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.
    Rudnik-Schöneborn S; Weis J; Kress W; Häusler M; Zerres K
    Neuromuscul Disord; 2008 Nov; 18(11):881-5. PubMed ID: 18684626
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 30.