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365 related items for PubMed ID: 31671740

  • 1. Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
    Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M.
    Genes (Basel); 2019 Oct 29; 10(11):. PubMed ID: 31671740
    [Abstract] [Full Text] [Related]

  • 2. Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
    Zehravi M, Wahid M, Ashraf J, Fatima T.
    Genet Test Mol Biomarkers; 2021 Mar 29; 25(3):218-226. PubMed ID: 33734897
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 Aug 14; 63(1):58-62. PubMed ID: 25751470
    [Abstract] [Full Text] [Related]

  • 5. 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 14; 32(8):e22575. PubMed ID: 29802662
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 14; 60(2):112-7. PubMed ID: 24213305
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 Nov 14; 59(6):803-9. PubMed ID: 22234189
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 25(3):201-213. PubMed ID: 38850354
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 132():303-11. PubMed ID: 20847377
    [Abstract] [Full Text] [Related]

  • 12. 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 Sep 14; 27(4):449-460. PubMed ID: 30226963
    [Abstract] [Full Text] [Related]

  • 13. Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.
    Tallapaka K, Ranganath P, Ramachandran A, Uppin MS, Perala S, Aggarwal S, Lakshmi D, Meena AK, Dalal AB.
    Indian Pediatr; 2019 Jul 15; 56(7):556-559. PubMed ID: 31333208
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 51(3-4):189-201. PubMed ID: 23224783
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 61(6):483-9. PubMed ID: 26911353
    [Abstract] [Full Text] [Related]

  • 16. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
    Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, Wu L.
    J Hum Genet; 2015 Aug 15; 60(8):435-42. PubMed ID: 25972034
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 58(3):613-618. PubMed ID: 28332368
    [Abstract] [Full Text] [Related]

  • 18. 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 May 15; 13(5):e0197205. PubMed ID: 29847600
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 27(3):274-80. PubMed ID: 22379338
    [Abstract] [Full Text] [Related]

  • 20. MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
    Deepha S, Vengalil S, Preethish-Kumar V, Polavarapu K, Nalini A, Gayathri N, Purushottam M.
    BMC Med Genet; 2017 Jun 13; 18(1):67. PubMed ID: 28610567
    [Abstract] [Full Text] [Related]

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