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Journal Abstract Search

171 related items for PubMed ID: 18160999

  • 1. Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.
    Zhang Z, Takeshima Y, Awano H, Nishiyama A, Okizuka Y, Yagi M, Matsuo M.
    J Hum Genet; 2008; 53(3):215-219. PubMed ID: 18160999
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  • 2. The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka.
    Thakur N, Abeysekera G, Wanigasinghe J, Dissanayake VHW.
    Neurol India; 2019; 67(3):714-715. PubMed ID: 31347541
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  • 6. MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.
    Zimowski JG, Massalska D, Holding M, Jadczak S, Fidziańska E, Lusakowska A, Kostera-Pruszczyk A, Kamińska A, Zaremba J.
    Neurol Neurochir Pol; 2014; 48(6):416-22. PubMed ID: 25482253
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  • 7. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.
    Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J.
    Neurogenetics; 2005 Feb; 6(1):29-35. PubMed ID: 15655674
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  • 8. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
    Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
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  • 10. Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.
    Takeshita E, Minami N, Minami K, Suzuki M, Awashima T, Ishiyama A, Komaki H, Nishino I, Sasaki M.
    Neuromuscul Disord; 2017 Jun; 27(6):569-573. PubMed ID: 28434908
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  • 11. Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).
    Lai KK, Lo IF, Tong TM, Cheng LY, Lam ST.
    Clin Biochem; 2006 Apr; 39(4):367-72. PubMed ID: 16413013
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  • 13. Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy.
    Zhu JF, Liu HH, Zhou T, Tian L.
    Int J Mol Med; 2013 Nov; 32(5):1166-70. PubMed ID: 24065205
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  • 14. Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.
    Traverso M, Malnati M, Minetti C, Regis S, Tedeschi S, Pedemonte M, Bruno C, Biassoni R, Zara F.
    Biochem Biophys Res Commun; 2006 Jan 06; 339(1):145-50. PubMed ID: 16297882
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  • 15. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach.
    Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM.
    J Neuromuscul Dis; 2017 Jan 06; 4(3):199-207. PubMed ID: 28869484
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  • 18. Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method.
    Sansović I, Barišić I, Dumić K.
    Biochem Genet; 2013 Apr 06; 51(3-4):189-201. PubMed ID: 23224783
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  • 19. Two mutations in one dystrophin gene.
    Zimowski J, Fidziańska E, Holding M, Zaremba J.
    Neurol Neurochir Pol; 2013 Apr 06; 47(2):131-7. PubMed ID: 23650001
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