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Journal Abstract Search

177 related items for PubMed ID: 7762556

  • 21.
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  • 23. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
    Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH.
    Hum Mol Genet; 1994 Dec; 3(12):2181-6. PubMed ID: 7881417
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  • 25. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
    Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV.
    Genomics; 1994 Sep 01; 23(1):236-9. PubMed ID: 7829078
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  • 26. Phenotypes associated with malignant hyperthermia susceptibility in swine genotyped as homozygous or heterozygous for the ryanodine receptor mutation.
    Fletcher JE, Calvo PA, Rosenberg H.
    Br J Anaesth; 1993 Sep 01; 71(3):410-7. PubMed ID: 8398525
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  • 27. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.
    MacLennan DH, Otsu K, Fujii J, Zorzato F, Phillips MS, O'Brien PJ, Archibald AL, Britt BA, Gillard EF, Worton RG.
    Symp Soc Exp Biol; 1992 Sep 01; 46():189-201. PubMed ID: 1341035
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  • 28. Malignant hyperthermia susceptibility, an autosomal dominant disorder?
    Fagerlund TH, Islander G, Ranklev Twetman E, Berg K.
    Clin Genet; 1997 Jun 01; 51(6):365-9. PubMed ID: 9237497
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  • 34. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
    Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, Fortunato G, Girard T, Heytens L, Hopkins PM, Jurkat-Rott K, Klinger W, Kozak-Ribbens G, Krivosic R, Monnier N, Nivoche Y, Olthoff D, Rueffert H, Sorrentino V, Tegazzin V, Mueller CR.
    Eur J Hum Genet; 2003 Apr 01; 11(4):342-8. PubMed ID: 12700608
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  • 35. Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.
    Robinson R, Curran JL, Hall WJ, Halsall PJ, Hopkins PM, Markham AF, Stewart AD, West SP, Ellis FR.
    J Med Genet; 1998 Mar 01; 35(3):196-201. PubMed ID: 9541102
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  • 37. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
    Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ.
    Hum Mol Genet; 1994 Oct 01; 3(10):1855-8. PubMed ID: 7849712
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  • 38. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.
    Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, Du Chesne I, Lehmann-Horn F, Deufel T.
    Hum Mol Genet; 1993 Jul 01; 2(7):857-62. PubMed ID: 8395939
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  • 39. Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.
    Loke JC, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH.
    Anesthesiology; 2003 Aug 01; 99(2):297-302. PubMed ID: 12883402
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  • 40. Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
    Rueffert H, Wehner M, Ogunlade V, Meinecke C, Schober R.
    Clin Neuropathol; 2009 Aug 01; 28(6):409-16. PubMed ID: 19919814
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