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Journal Abstract Search

827 related items for PubMed ID: 29847600

  • 1. Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.
    Mohammed F, Elshafey A, Al-Balool H, Alaboud H, Al Ben Ali M, Baqer A, Bastaki L.
    PLoS One; 2018; 13(5):e0197205. PubMed ID: 29847600
    [Abstract] [Full Text] [Related]

  • 2. [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy].
    Bai Y, Li S, Zong YN, Li XL, Zhao ZH, Kong XD.
    Zhonghua Yi Xue Za Zhi; 2016 Apr 26; 96(16):1261-9. PubMed ID: 27122458
    [Abstract] [Full Text] [Related]

  • 3. MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study.
    Ansar Z, Nasir A, Moatter T, Khan S, Kirmani S, Ibrahim S, Imam K, Ather A, Samreen A, Hasan Z.
    Genet Test Mol Biomarkers; 2019 Jul 26; 23(7):468-472. PubMed ID: 31157985
    [Abstract] [Full Text] [Related]

  • 4. Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.
    Murugan S, Chandramohan A, Lakshmi BR.
    Indian J Med Res; 2010 Sep 26; 132():303-11. PubMed ID: 20847377
    [Abstract] [Full Text] [Related]

  • 5. Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.
    Haghshenas M, Akbari MT, Karizi SZ, Deilamani FK, Nafissi S, Salehi Z.
    J Genet; 2016 Jun 26; 95(2):325-9. PubMed ID: 27350676
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 27(3):274-80. PubMed ID: 22379338
    [Abstract] [Full Text] [Related]

  • 7. 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 26; 87(7):495-504. PubMed ID: 32358784
    [Abstract] [Full Text] [Related]

  • 8. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.
    Iskandar K, Dwianingsih EK, Pratiwi L, Kalim AS, Mardhiah H, Putranti AH, Nurputra DK, Triono A, Herini ES, Malueka RG, Gunadi, Lai PS, Sunartini.
    BMC Res Notes; 2019 Oct 28; 12(1):704. PubMed ID: 31661024
    [Abstract] [Full Text] [Related]

  • 9. Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.
    Tran VK, Ta VT, Vu DC, Nguyen ST, Do HN, Ta MH, Tran TH, Matsuo M.
    J Neurogenet; 2013 Dec 28; 27(4):170-5. PubMed ID: 24099565
    [Abstract] [Full Text] [Related]

  • 10. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.
    Uwineza A, Hitayezu J, Murorunkwere S, Ndinkabandi J, Kalala Malu CK, Caberg JH, Dideberg V, Bours V, Mutesa L.
    J Trop Pediatr; 2014 Apr 28; 60(2):112-7. PubMed ID: 24213305
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.
    Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW.
    Yonsei Med J; 2017 May 05; 58(3):613-618. PubMed ID: 28332368
    [Abstract] [Full Text] [Related]

  • 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 05; 61(6):483-9. PubMed ID: 26911353
    [Abstract] [Full Text] [Related]

  • 14. Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
    Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH.
    Muscle Nerve; 2017 May 05; 55(5):727-734. PubMed ID: 27593222
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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 14; 92(2):199-203. PubMed ID: 28116794
    [Abstract] [Full Text] [Related]

  • 17. Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.
    Aravind S, Ashley B, Mannan A, Ganapathy A, Ramesh K, Ramachandran A, Nongthomba U, Shastry A.
    Indian J Med Res; 2019 Sep 14; 150(3):282-289. PubMed ID: 31719299
    [Abstract] [Full Text] [Related]

  • 18. Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
    Zhong J, Xu T, Chen G, Liao H, Zhang J, Lan D.
    Muscle Nerve; 2017 Jul 14; 56(1):117-121. PubMed ID: 27750387
    [Abstract] [Full Text] [Related]

  • 19. Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
    Zamani GR, Karami F, Mehdizadeh M, Movafagh A, Nilipour Y, Zamani M.
    Neurol Sci; 2015 Nov 14; 36(11):2011-7. PubMed ID: 26081009
    [Abstract] [Full Text] [Related]

  • 20. The X-linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45-47.
    Heier CR, McCormack NM, Tully CB, Novak JS, Newell-Stamper BL, Russell AJ, Fiorillo AA.
    J Cachexia Sarcopenia Muscle; 2023 Apr 14; 14(2):940-954. PubMed ID: 36628607
    [Abstract] [Full Text] [Related]

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