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Journal Abstract Search

215 related items for PubMed ID: 7853367

  • 1. Deletions in the 5' region of dystrophin and resulting phenotypes.
    Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SK, Abbs S, Roberts R, Hodgson SV, Bobrow M.
    J Med Genet; 1994 Nov; 31(11):843-7. PubMed ID: 7853367
    [Abstract] [Full Text] [Related]

  • 2. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
    Winnard AV, Klein CJ, Coovert DD, Prior T, Papp A, Snyder P, Bulman DE, Ray PN, McAndrew P, King W.
    Hum Mol Genet; 1993 Jun; 2(6):737-44. PubMed ID: 8353493
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  • 5. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
    Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F.
    Brain; 2011 Dec; 134(Pt 12):3547-59. PubMed ID: 22102647
    [Abstract] [Full Text] [Related]

  • 6. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies.
    Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Récan D, Katz P, de la Chapelle A, Koenig M, Ginjaar IB.
    Cell; 1990 Dec 21; 63(6):1239-48. PubMed ID: 2261642
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  • 7. Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
    Gangopadhyay SB, Sherratt TG, Heckmatt JZ, Dubowitz V, Miller G, Shokeir M, Ray PN, Strong PN, Worton RG.
    Am J Hum Genet; 1992 Sep 21; 51(3):562-70. PubMed ID: 1496988
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  • 8. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
    Nicholson LV, Johnson MA, Bushby KM, Gardner-Medwin D, Curtis A, Ginjaar IB, den Dunnen JT, Welch JL, Butler TJ, Bakker E.
    J Med Genet; 1993 Sep 21; 30(9):737-44. PubMed ID: 8411068
    [Abstract] [Full Text] [Related]

  • 9. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
    Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapellet A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gailati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LA, van Paassen MB, van Ommen GJ, Kunkel LM.
    Am J Hum Genet; 1989 Oct 21; 45(4):498-506. PubMed ID: 2491009
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  • 10. Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene.
    Bittner RE, Shorny S, Ferlings R, Sperl W, Kress W, Müller CR, Cremer M, Léger JJ, Voit T.
    Neuromuscul Disord; 1995 Mar 21; 5(2):81-92. PubMed ID: 7767097
    [Abstract] [Full Text] [Related]

  • 11. Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype.
    Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, Dubowitz V.
    Isr Med Assoc J; 2003 Feb 21; 5(2):94-7. PubMed ID: 12674656
    [Abstract] [Full Text] [Related]

  • 12. Dystrophin expression in Duchenne patients with "in-frame" gene deletions.
    Nicholson LV, Bushby KM, Johnson MA, Gardner-Medwin D, Ginjaar IB.
    Neuropediatrics; 1993 Apr 21; 24(2):93-7. PubMed ID: 8327067
    [Abstract] [Full Text] [Related]

  • 13. Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.
    Simard LR, Gingras F, Delvoye N, Vanasse M, Melançon SB, Labuda D.
    Hum Genet; 1992 Jun 21; 89(4):419-24. PubMed ID: 1618490
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  • 14. Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.
    Kitoh Y, Matsuo M, Nishio H, Nakamura H.
    Kobe J Med Sci; 1994 Apr 21; 40(2):39-48. PubMed ID: 7823533
    [Abstract] [Full Text] [Related]

  • 15. Genetic and clinical correlations of Xp21 muscular dystrophy.
    Bushby KM.
    J Inherit Metab Dis; 1992 Apr 21; 15(4):551-64. PubMed ID: 1528016
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  • 16. Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
    Dastur RS, Gaitonde PS, Khadilkar SV, Nadkarni JJ.
    Neurol India; 2008 Apr 21; 56(3):374-8. PubMed ID: 18974567
    [Abstract] [Full Text] [Related]

  • 17. Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients.
    Dinçer P, Topaloğlu H, Ayter S, Ozgüç M, Taşdemir HA, Renda Y.
    Brain Dev; 1996 Apr 21; 18(2):91-4. PubMed ID: 8733896
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  • 18. [Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy].
    Takeshima Y, Matsuo M.
    Nihon Rinsho; 1997 Dec 21; 55(12):3120-5. PubMed ID: 9436421
    [Abstract] [Full Text] [Related]

  • 19. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?
    Fanin M, Freda MP, Vitiello L, Danieli GA, Pegoraro E, Angelini C.
    Muscle Nerve; 1996 Sep 21; 19(9):1154-60. PubMed ID: 8761273
    [Abstract] [Full Text] [Related]

  • 20. Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging.
    Tandon A, Jefferies JL, Villa CR, Hor KN, Wong BL, Ware SM, Gao Z, Towbin JA, Mazur W, Fleck RJ, Sticka JJ, Benson DW, Taylor MD.
    Am J Cardiol; 2015 Apr 01; 115(7):967-71. PubMed ID: 25702278
    [Abstract] [Full Text] [Related]

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