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Journal Abstract Search

221 related items for PubMed ID: 30226963

  • 1. EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY.
    Salian S, Vahab SA, Shah H, Shukla A, Ramamurthy B, Shenoy R, Kamath N, Shenoy J, Satyamoorthy K, Girisha KM.
    Genet Couns; 2016; 27(4):449-460. PubMed ID: 30226963
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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
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 7. A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene.
    Liu C, Deng H, Yang C, Li X, Zhu Y, Chen X, Li H, Li S, Cui H, Zhang X, Tan X, Li D, Zhang Z.
    J Clin Lab Anal; 2018 Oct; 32(8):e22575. PubMed ID: 29802662
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  • 8. 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; 58(3):613-618. PubMed ID: 28332368
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  • 9. A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study.
    Manjunath M, Kiran P, Preethish-Kumar V, Nalini A, Singh RJ, Gayathri N.
    Neurol India; 2015 May; 63(1):58-62. PubMed ID: 25751470
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  • 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; 60(2):112-7. PubMed ID: 24213305
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  • 11. [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
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  • 13. 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 Apr 26; 48(6):416-22. PubMed ID: 25482253
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  • 14. [Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].
    Wang WJ, Zhu HY, Zhu RF, Yang Y, Zhu XY, Duan HL, Zhang Y, Wu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb 26; 30(1):45-8. PubMed ID: 23450478
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  • 15. Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods.
    Khordadpoor-Deilamani F, Akbari MT, Nafissi S, Zamani G.
    Genet Test Mol Biomarkers; 2011 Dec 26; 15(12):893-9. PubMed ID: 21815800
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  • 16. 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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  • 17. 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 14; 27(3):274-80. PubMed ID: 22379338
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  • 18. [Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
    Zhao W, Jiang N, Li S, Li JS, Miao Y, Liang SY, Yu DY.
    Zhonghua Fu Chan Ke Za Zhi; 2019 Apr 25; 54(4):226-231. PubMed ID: 31006187
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  • 19. Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
    Ozkalayci H, Bora E, Cankaya T, Kocabey M, Zubari NC, Yis U, Giray Bozkaya O, Turan S, Pekcanlar Akay A, Caglayan AO, Ulgenalp A.
    Neurogenetics; 2024 Jul 25; 25(3):201-213. PubMed ID: 38850354
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  • 20. [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 25; 48(3):161-4. PubMed ID: 23849935
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