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Journal Abstract Search

813 related items for PubMed ID: 29631625

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  • 23. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
    Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M.
    Hum Mutat; 2007 Feb; 28(2):196-202. PubMed ID: 17041910
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  • 28. Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.
    Lee BL, Nam SH, Lee JH, Ki CS, Lee M, Lee J.
    J Korean Med Sci; 2012 Mar; 27(3):274-80. PubMed ID: 22379338
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  • 29. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
    del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.
    Hum Mutat; 2008 Sep; 29(9):1100-7. PubMed ID: 18752307
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  • 30. Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.
    Zhao HH, Sun XP, Shi MC, Yi YX, Cheng H, Wang XX, Xu QC, Ma HM, Wu HQ, Jin QW, Niu Q.
    Chin Med J (Engl); 2018 Apr 05; 131(7):770-775. PubMed ID: 29578119
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  • 31. [Gene Mutation Spectrum Analysis of 170 Patients with Duchenne/Bayesian Muscular Dystrophy in Southwest of China].
    Wang J, Peng W, Hu XJ, Shang MQ, Zhou J, Zhou Y, Ye YX, Song XB, Lu XJ, Ying BW.
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2016 Mar 05; 47(2):232-7. PubMed ID: 27263301
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  • 32. Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.
    Kohli S, Saxena R, Thomas E, Singh K, Bijarnia Mahay S, Puri RD, Verma IC.
    Indian J Pediatr; 2020 Jul 05; 87(7):495-504. PubMed ID: 32358784
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  • 33. [Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].
    Li Q, Li SY, Zhang HM, He WZ, Ma XY, Wang XM, Xian JJ, Sun XF, Chen DJ, Yu YH.
    Zhonghua Fu Chan Ke Za Zhi; 2013 Mar 05; 48(3):161-4. PubMed ID: 23849935
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  • 36. Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype.
    Wang Z, Lin Y, Qiu L, Zheng D, Yan A, Zeng J, Lan F.
    Clin Chem Lab Med; 2016 Sep 01; 54(9):1435-40. PubMed ID: 26985686
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  • 37. Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
    Zhang J, Ma D, Liu G, Wang Y, Liu A, Li L, Luo C, Hu P, Xu Z.
    BMC Med Genet; 2019 Nov 14; 20(1):180. PubMed ID: 31727011
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  • 38. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).
    Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L.
    Hum Genet; 2005 Jun 14; 117(1):92-8. PubMed ID: 15841391
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  • 39. 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 14; 39(4):367-72. PubMed ID: 16413013
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  • 40. CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene.
    Egorova TV, Zotova ED, Reshetov DA, Polikarpova AV, Vassilieva SG, Vlodavets DV, Gavrilov AA, Ulianov SV, Buchman VL, Deykin AV.
    Dis Model Mech; 2019 Apr 25; 12(4):. PubMed ID: 31028078
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