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Journal Abstract Search

302 related items for PubMed ID: 29652985

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. [Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China].
    Gao Z, Liu L, Wang Y, Wang Y, Huang W, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul 10; 39(7):669-673. PubMed ID: 35810418
    [Abstract] [Full Text] [Related]

  • 23. 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 10; 60(2):112-7. PubMed ID: 24213305
    [Abstract] [Full Text] [Related]

  • 24. 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 10; 27(3):274-80. PubMed ID: 22379338
    [Abstract] [Full Text] [Related]

  • 25. 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 10; 117(1):92-8. PubMed ID: 15841391
    [Abstract] [Full Text] [Related]

  • 26. Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them.
    Wu Y, Yin G, Fu K, Wu D, Zhai Q, Du H, Huang Z, Niu Y.
    J Clin Lab Anal; 2009 Jun 10; 23(6):380-6. PubMed ID: 19927354
    [Abstract] [Full Text] [Related]

  • 27. 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 Jun 10; 27(4):449-460. PubMed ID: 30226963
    [Abstract] [Full Text] [Related]

  • 28. 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 10; 36(11):2011-7. PubMed ID: 26081009
    [Abstract] [Full Text] [Related]

  • 29. [Variant analysis and therapeutic prospect for Chinese pedigrees affected with Duchenne/Becker muscular dystrophy from a single center over the past 15 years].
    Zhong X, Liu L, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May 10; 38(5):425-429. PubMed ID: 33974248
    [Abstract] [Full Text] [Related]

  • 30. Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.
    Li T, Zhang ZJ, Ma X, Lv X, Xiao H, Guo QN, Liu HY, Wang HD, Wu D, Lou GY, Wang X, Zhang CY, Liao SX.
    Medicine (Baltimore); 2017 Dec 10; 96(50):e8814. PubMed ID: 29390271
    [Abstract] [Full Text] [Related]

  • 31. [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
    [Abstract] [Full Text] [Related]

  • 32. Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
    Chen M, Chen C, Li Y, Yuan Y, Lai Z, Guo F, Wang Y, Huang X, Li S, Wu R, Peng Z, Sun J, Chen D.
    Eur J Obstet Gynecol Reprod Biol; 2019 Sep 10; 240():15-22. PubMed ID: 31207536
    [Abstract] [Full Text] [Related]

  • 33. Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.
    Wang H, Xu Y, Liu X, Wang L, Jiang W, Xiao B, Wei W, Chen Y, Ye W, Ji X.
    Prenat Diagn; 2017 Apr 10; 37(4):356-364. PubMed ID: 28181689
    [Abstract] [Full Text] [Related]

  • 34. 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 10; 61(6):483-9. PubMed ID: 26911353
    [Abstract] [Full Text] [Related]

  • 35. 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 10; 150(3):282-289. PubMed ID: 31719299
    [Abstract] [Full Text] [Related]

  • 36. 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 Sep 10; 63(1):58-62. PubMed ID: 25751470
    [Abstract] [Full Text] [Related]

  • 37. [Efficiency of multiplex ligation-dependent probe amplification combined with short tandem repeat linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy].
    Li T, Wu D, Hou QF, Wang L, Guo QN, Kang B, Liu HY, Yang K, Ding XB, Liao SX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb 10; 30(1):40-4. PubMed ID: 23450477
    [Abstract] [Full Text] [Related]

  • 38. 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 10; 23(7):468-472. PubMed ID: 31157985
    [Abstract] [Full Text] [Related]

  • 39. [Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis].
    Qiu X, Guo JJ, Jin CC, He J, Wang L, Yang BC, Zhang YH, Zhu BS, Tang XH.
    Zhonghua Fu Chan Ke Za Zhi; 2024 Apr 25; 59(4):279-287. PubMed ID: 38644274
    [Abstract] [Full Text] [Related]

  • 40. [Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy].
    Xiao H, Zhang Z, Li T, Zhang Q, Guo Q, Wu D, Wang H, Zhang M, Gao Y, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct 10; 36(10):1015-1018. PubMed ID: 31598949
    [Abstract] [Full Text] [Related]

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