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Journal Abstract Search

308 related items for PubMed ID: 17253928

  • 1. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.
    Stockley TL, Akber S, Bulgin N, Ray PN.
    Genet Test; 2006; 10(4):229-43. PubMed ID: 17253928
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  • 2. [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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  • 5. Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification.
    Dastur RS, Kachwala MY, Khadilkar SV, Hegde MR, Gaitonde PS.
    Neurol India; 2011 Jun; 59(6):803-9. PubMed ID: 22234189
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  • 6. 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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  • 7. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
    Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH.
    J Med Genet; 2011 Nov; 48(11):731-6. PubMed ID: 21969337
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  • 11. Genetic profile of Brazilian patients with dystrophinopathies.
    de Almeida PAD, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MCS, Bueno LSM, Saute JAM, Pinto Vairo F, Matte US, Siebert M, Cossio SL, Macedo GS, Winckler PB, Becker MM, Magalhães LVB, Gonçalves MVM, Marrone CD, Nucci A, França MC.
    Clin Genet; 2017 Aug; 92(2):199-203. PubMed ID: 28116794
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  • 13. Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
    Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I.
    J Hum Genet; 2016 Jun; 61(6):483-9. PubMed ID: 26911353
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  • 14. [Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy].
    Li S, Bai Y, Zhao Z, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):762-767. PubMed ID: 27984601
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  • 15. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
    Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.
    Hum Mutat; 2007 Feb 10; 28(2):183-95. PubMed ID: 17041906
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  • 17. [Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy].
    Li H, Xu C, Mao Y, Lu J, Xiang Y, Xu X, Tang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr 10; 35(2):169-174. PubMed ID: 29652985
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  • 18. Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.
    Kong X, Zhong X, Liu L, Cui S, Yang Y, Kong L.
    BMC Med Genet; 2019 Aug 14; 20(1):139. PubMed ID: 31412794
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  • 19. Deletion and duplication screening in the DMD gene using MLPA.
    Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT.
    Eur J Hum Genet; 2005 Nov 14; 13(11):1231-4. PubMed ID: 16030524
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  • 20. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
    Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT.
    Hum Mutat; 2004 Jan 14; 23(1):57-66. PubMed ID: 14695533
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