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163 related items for PubMed ID: 11493496

  • 1. Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.
    Rueffert H, Olthoff D, Deutrich C, Thamm B, Froster UG.
    Br J Anaesth; 2001 Aug; 87(2):240-5. PubMed ID: 11493496
    [Abstract] [Full Text] [Related]

  • 2. 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; 60(2):117-24. PubMed ID: 11553045
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  • 3. Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family.
    Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, Greenberg CR.
    Anesthesiology; 1996 Feb; 84(2):322-9. PubMed ID: 8602662
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  • 4. 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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  • 5. [In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method].
    Rüffert H, Olthoff D, Deutrich C, Thamm B, Froster U.
    Anaesthesist; 2000 Feb; 49(2):113-20. PubMed ID: 10756965
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  • 6. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
    Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM.
    Hum Mol Genet; 2000 Jun 12; 9(10):1515-24. PubMed ID: 10888602
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  • 7. Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations.
    Fiege M, Wappler F, Weisshorn R, Ulrich Gerbershagen M, Steinfath M, Schulte Am Esch J.
    Anesthesiology; 2002 Aug 12; 97(2):345-50. PubMed ID: 12151923
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  • 10. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
    Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.
    Hum Mutat; 2002 Aug 12; 20(2):88-97. PubMed ID: 12124989
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  • 11. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
    Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG.
    Am J Med Genet A; 2004 Jan 30; 124A(3):248-54. PubMed ID: 14708096
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  • 12. C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response.
    Steinfath M, Singh S, Scholz J, Becker K, Lenzen C, Wappler F, Köchling A, Roewer N, Schulte am Esch J.
    J Mol Med (Berl); 1995 Jan 30; 73(1):35-40. PubMed ID: 7633940
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  • 13. Genotype-phenotype comparison of the Swiss malignant hyperthermia population.
    Girard T, Urwyler A, Censier K, Mueller CR, Zorzato F, Treves S.
    Hum Mutat; 2001 Oct 30; 18(4):357-8. PubMed ID: 11668625
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  • 14. Genetic variation in RYR1 and malignant hyperthermia phenotypes.
    Carpenter D, Robinson RL, Quinnell RJ, Ringrose C, Hogg M, Casson F, Booms P, Iles DE, Halsall PJ, Steele DS, Shaw MA, Hopkins PM.
    Br J Anaesth; 2009 Oct 30; 103(4):538-48. PubMed ID: 19648156
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  • 15. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).
    Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K.
    Anesthesiology; 2001 Sep 30; 95(3):716-25. PubMed ID: 11575546
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  • 17. Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.
    Fagerlund TH, Ording H, Bendixen D, Islander G, Ranklev Twetman E, Berg K.
    Clin Genet; 1997 Dec 30; 52(6):416-21. PubMed ID: 9520251
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  • 18. Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.
    Girard T, Treves S, Censier K, Mueller CR, Zorzato F, Urwyler A.
    Br J Anaesth; 2002 Oct 30; 89(4):571-9. PubMed ID: 12393358
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  • 19. Malignant hyperthermia susceptibility, an autosomal dominant disorder?
    Fagerlund TH, Islander G, Ranklev Twetman E, Berg K.
    Clin Genet; 1997 Jun 30; 51(6):365-9. PubMed ID: 9237497
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  • 20. 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 30; 71(3):410-7. PubMed ID: 8398525
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