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Journal Abstract Search

386 related items for PubMed ID: 11668625

  • 1. 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; 18(4):357-8. PubMed ID: 11668625
    [Abstract] [Full Text] [Related]

  • 2. 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; 11(4):342-8. PubMed ID: 12700608
    [Abstract] [Full Text] [Related]

  • 3. A case of discordance between genotype and phenotype in a malignant hyperthermia family.
    Fortunato G, Carsana A, Tinto N, Brancadoro V, Canfora G, Salvatore F.
    Eur J Hum Genet; 1999 Apr; 7(4):415-20. PubMed ID: 10352931
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  • 6. 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; 20(2):88-97. PubMed ID: 12124989
    [Abstract] [Full Text] [Related]

  • 7. Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
    Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V.
    Hum Mutat; 2006 Aug; 27(8):830. PubMed ID: 16835904
    [Abstract] [Full Text] [Related]

  • 8. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Aug; 15(5):410-7. PubMed ID: 10790202
    [Abstract] [Full Text] [Related]

  • 9. 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; 8(2):149-52. PubMed ID: 10757649
    [Abstract] [Full Text] [Related]

  • 10. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
    MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG.
    Nature; 1990 Feb 08; 343(6258):559-61. PubMed ID: 1967823
    [Abstract] [Full Text] [Related]

  • 11. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
    Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
    Hum Mutat; 2005 Nov 08; 26(5):413-25. PubMed ID: 16163667
    [Abstract] [Full Text] [Related]

  • 12. Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family.
    Steinfath M, Seranski P, Singh S, Fiege M, Wappler F, Schulte Am Esch J, Scholz J.
    Naunyn Schmiedebergs Arch Pharmacol; 2002 Oct 08; 366(4):372-5. PubMed ID: 12237752
    [Abstract] [Full Text] [Related]

  • 13. [Current aspects of the diagnosis of malignant hyperthermia].
    Rüffert H, Olthoff D, Deutrich C, Froster UG.
    Anaesthesist; 2002 Nov 08; 51(11):904-13. PubMed ID: 12434264
    [Abstract] [Full Text] [Related]

  • 14. 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 08; 46(6):692-8. PubMed ID: 12059893
    [Abstract] [Full Text] [Related]

  • 15. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
    Heytens L.
    Acta Anaesthesiol Belg; 2007 Jul 08; 58(2):113-8. PubMed ID: 17710899
    [Abstract] [Full Text] [Related]

  • 16. [What significance to genotype changes have in diagnosis of malignant hyperthermia?].
    Steinfath M, Scholz J, Singh S, Wappler F.
    Anasthesiol Intensivmed Notfallmed Schmerzther; 1996 Aug 08; 31(6):334-43. PubMed ID: 8962927
    [Abstract] [Full Text] [Related]

  • 17. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia.
    Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM.
    Anesthesiology; 2008 Feb 08; 108(2):208-15. PubMed ID: 18212565
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Genetic analysis with calcium-induced calcium release test in Japanese malignant hyperthermia susceptible (MHS) families.
    Maehara Y, Mukaida K, Hiyama E, Morio M, Kawamoto M, Yuge O.
    Hiroshima J Med Sci; 1999 Mar 12; 48(1):9-15. PubMed ID: 10213958
    [Abstract] [Full Text] [Related]

  • 20. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
    Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V.
    J Med Genet; 1999 Feb 12; 36(2):115-8. PubMed ID: 10051009
    [Abstract] [Full Text] [Related]

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