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Journal Abstract Search

144 related items for PubMed ID: 9389851

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  • 4. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
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  • 6. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
    Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG.
    Acta Anaesthesiol Scand; 2002 Jul; 46(6):692-8. PubMed ID: 12059893
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  • 8. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
    Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F.
    Hum Mol Genet; 1999 Oct; 8(11):2055-62. PubMed ID: 10484775
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  • 9. 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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  • 10. Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.
    Rueffert H, Olthoff D, Deutrich C, Froster UG.
    Clin Genet; 2001 Aug 01; 60(2):117-24. PubMed ID: 11553045
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  • 14. Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
    Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J.
    Anesthesiology; 1997 Mar 01; 86(3):620-6. PubMed ID: 9066328
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  • 16. Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.
    Fortunato G, Berruti R, Brancadoro V, Fattore M, Salvatore F, Carsana A.
    Eur J Hum Genet; 2000 Feb 01; 8(2):149-52. PubMed ID: 10757649
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  • 17. Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
    Broman M, Gehrig A, Islander G, Bodelsson M, Ranklev-Twetman E, Rüffert H, Müller CR.
    Br J Anaesth; 2009 May 01; 102(5):642-9. PubMed ID: 19346234
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  • 18. 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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  • 19. North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
    Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM.
    Anesthesiology; 2001 Sep 01; 95(3):594-9. PubMed ID: 11575529
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