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Journal Abstract Search

289 related items for PubMed ID: 18031759

  • 1. Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India.
    Purushottam M, Murthy AR, Shubha GN, Gayathri N, Nalini A.
    J Neurol Sci; 2008 May 15; 268(1-2):179-82. PubMed ID: 18031759
    [Abstract] [Full Text] [Related]

  • 2. Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India.
    Swaminathan B, Shubha GN, Shubha D, Murthy AR, Kiran Kumar HB, Shylashree S, Gayathri N, Jamuna R, Jain S, Purushottam M, Nalini A.
    Neurol India; 2009 May 15; 57(6):734-8. PubMed ID: 20139501
    [Abstract] [Full Text] [Related]

  • 3. Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families.
    Zhu HY, Wu LQ, Liang DS, Pan Q, Xia JH.
    Yi Chuan Xue Bao; 2006 Mar 15; 33(3):206-12. PubMed ID: 16553208
    [Abstract] [Full Text] [Related]

  • 4. Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.
    Ferreiro V, Giliberto F, Muñiz GM, Francipane L, Marzese DM, Mampel A, Roqué M, Frechtel GD, Szijan I.
    Muscle Nerve; 2009 Feb 15; 39(2):239-43. PubMed ID: 19012301
    [Abstract] [Full Text] [Related]

  • 5. Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.
    Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, Takeda S, Ikeda S.
    J Hum Genet; 2009 Feb 15; 54(2):127-30. PubMed ID: 19158820
    [Abstract] [Full Text] [Related]

  • 6. [Therapy of Duchenne muscular dystrophy with umbilical cord blood stem cell transplantation].
    Zhang C, Feng HY, Huang SL, Fang JP, Xiao LL, Yao XL, Chen C, Ye X, Zeng Y, Lu XL, Wen JM, Zhang WX, Li Z, Feng SW, Xu HG, Huang K, Zhou DH, Chen W, Xie YM, Xi J, Zhang M, Li Y, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug 15; 22(4):399-405. PubMed ID: 16086277
    [Abstract] [Full Text] [Related]

  • 7. [Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction].
    Huang W, Zhang C, Xie YM, Chen SL, Zhang WX, Yao XL, Zeng Y, Lu XL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Feb 15; 24(1):72-5. PubMed ID: 17285549
    [Abstract] [Full Text] [Related]

  • 8. Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
    Percesepe A, Ferrari M, Coviello D, Zanussi M, Castagni M, Neri I, Travi M, Forabosco A, Tedeschi S.
    Prenat Diagn; 2005 Nov 15; 25(11):1011-4. PubMed ID: 16231306
    [Abstract] [Full Text] [Related]

  • 9. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
    Sironi M, Corti S, Locatelli F, Cagliani R, Comi GP.
    Hum Mutat; 2001 Mar 15; 17(3):239. PubMed ID: 11241855
    [No Abstract] [Full Text] [Related]

  • 10. PGD for dystrophin gene deletions using fluorescence in situ hybridization.
    Malmgren H, White I, Johansson S, Levkov L, Iwarsson E, Fridström M, Blennow E.
    Mol Hum Reprod; 2006 May 15; 12(5):353-6. PubMed ID: 16608904
    [Abstract] [Full Text] [Related]

  • 11. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
    Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M.
    Hum Mutat; 2007 Feb 15; 28(2):196-202. PubMed ID: 17041910
    [Abstract] [Full Text] [Related]

  • 12. [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 15; 26(3):318-22. PubMed ID: 19504448
    [Abstract] [Full Text] [Related]

  • 13. Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.
    Marini M, Salmi AA, Watihayati MS, SMardziah MD, Zahri MK, Hoh BP, Ankathil R, Lai PS, Zilfalil BA.
    Med J Malaysia; 2008 Mar 15; 63(1):31-4. PubMed ID: 18935728
    [Abstract] [Full Text] [Related]

  • 14. Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.
    Ren Z, Zeng HT, Xu YW, Zhuang GL, Deng J, Zhang C, Zhou CQ.
    Fertil Steril; 2009 Feb 15; 91(2):359-64. PubMed ID: 18359022
    [Abstract] [Full Text] [Related]

  • 15. [Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene].
    Sheng WL, Chen JY, Pan SY, Zhang C, Liu ZL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct 15; 20(5):376-80. PubMed ID: 14556187
    [Abstract] [Full Text] [Related]

  • 16. Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
    Ulgenalp A, Giray O, Bora E, Hizli T, Kurul S, Sağin-Saylam G, Karasoy H, Uran N, Dizdarer G, Tütüncüoğlu S, Dirik E, Ozkinay F, Erçal D.
    Turk J Pediatr; 2004 Oct 15; 46(4):333-8. PubMed ID: 15641267
    [Abstract] [Full Text] [Related]

  • 17. Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy.
    Ito T, Takeshima Y, Yagi M, Kamei S, Wada H, Nakamura H, Matsuo M.
    J Neurol; 2003 May 15; 250(5):581-7. PubMed ID: 12736738
    [Abstract] [Full Text] [Related]

  • 18. Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
    Kerr TP, Sewry CA, Robb SA, Roberts RG.
    Hum Genet; 2001 Oct 15; 109(4):402-7. PubMed ID: 11702221
    [Abstract] [Full Text] [Related]

  • 19. Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
    Rajakulendran S, Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG.
    Arch Neurol; 2010 Apr 15; 67(4):497-500. PubMed ID: 20385919
    [Abstract] [Full Text] [Related]

  • 20. DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
    Hamed S, Sutherland-Smith A, Gorospe J, Kendrick-Jones J, Hoffman E.
    Clin Genet; 2005 Jul 15; 68(1):69-79. PubMed ID: 15952989
    [Abstract] [Full Text] [Related]

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