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Journal Abstract Search

260 related items for PubMed ID: 8198142

  • 21. Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene.
    Giliberto F, Ferreiro V, Dalamón V, Surace E, Cotignola J, Esperante S, Borelina D, Baranzini S, Szijan I.
    J Biochem Mol Biol; 2003 Mar 31; 36(2):179-84. PubMed ID: 12689516
    [Abstract] [Full Text] [Related]

  • 22. Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.
    Cotta A, Paim JF, Carvalho E, Navarro MM, Valicek J, da-Cunha-Junior AL, Menezes MM, Nunes SV, Xavier-Neto R, da Silveira EB, Costa-E-Silva C, Takata RI, Vargas AP.
    Can J Neurol Sci; 2017 May 31; 44(3):304-310. PubMed ID: 28181471
    [Abstract] [Full Text] [Related]

  • 23. Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.
    Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.
    J Clin Neuromuscul Dis; 2010 Jun 31; 11(4):203-8. PubMed ID: 20516809
    [Abstract] [Full Text] [Related]

  • 24. X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers.
    Wenger SL, Steele MW, Hoffman EP, Barmada MA, Wessel HB.
    Am J Med Genet; 1992 Aug 01; 43(6):1012-5. PubMed ID: 1415326
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  • 25. [Family genetic analysis of paternal Dystrophin gene mutations in a case of female Duchenne muscular dystrophy].
    Mao YY, Chen Q, Zhang X, Xu KM, Gao ZJ, Zhang PP.
    Zhonghua Yi Xue Za Zhi; 2021 Dec 28; 101(48):3973-3976. PubMed ID: 34955001
    [Abstract] [Full Text] [Related]

  • 26. 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 28; 25(3):218-226. PubMed ID: 33734897
    [Abstract] [Full Text] [Related]

  • 27. Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects.
    Bieber FR, Hoffman EP.
    Clin Perinatol; 1990 Dec 28; 17(4):845-65. PubMed ID: 2286031
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  • 30. Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in Dystrophin gene in an African patient.
    Peddareddygari LR, Pillai BH, Nochlin D, Sharer LR, Grewal RP.
    Afr Health Sci; 2011 Dec 28; 11(4):607-9. PubMed ID: 22649443
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  • 31. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
    Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M.
    Circulation; 1993 Jun 28; 87(6):1854-65. PubMed ID: 8504498
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  • 32. [Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
    Tuffery-Giraud S, Chambert S, Demaille J, Claustres M.
    Ann Biol Clin (Paris); 1999 Jun 28; 57(4):417-26. PubMed ID: 10432364
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  • 33. [Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias].
    Lesca G, Demarquay G, Llense S, Streichenberger N, Petiot P, Michel-Calemard L, Récan D, Vial C, Ollagnon-Roman E.
    Rev Neurol (Paris); 2003 Sep 28; 159(8-9):775-80. PubMed ID: 13679720
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  • 34. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
    Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM.
    Proc Natl Acad Sci U S A; 1992 Jan 15; 89(2):623-7. PubMed ID: 1731332
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  • 36. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy.
    Yoshioka M, Yorifuji T, Mituyoshi I.
    Clin Genet; 1998 Feb 15; 53(2):102-7. PubMed ID: 9611069
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  • 37. Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.
    Köchling S, den Dunnen JT, Dworniczak B, Horst J.
    Hum Genet; 1995 Apr 15; 95(4):475-7. PubMed ID: 7705851
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  • 38. Dystrophin analysis in the diagnosis of childhood muscular dystrophy: an immunohistochemical study of 75 cases.
    Jay V, Becker LE, Ackerley C, Ray P.
    Pediatr Pathol; 1993 Apr 15; 13(5):635-57. PubMed ID: 8247961
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  • 40. Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.
    Schwartz LS, Tarleton J, Popovich B, Seltzer WK, Hoffman EP.
    Am J Hum Genet; 1992 Oct 15; 51(4):721-9. PubMed ID: 1415217
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