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Journal Abstract Search

471 related items for PubMed ID: 10352931

  • 1. 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; 7(4):415-20. PubMed ID: 10352931
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  • 4. 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
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  • 5. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Apr; 15(5):410-7. PubMed ID: 10790202
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  • 6. 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
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  • 7. 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
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  • 8. 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 Feb 08; 28(6):409-16. PubMed ID: 19919814
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  • 10. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
    Heytens L.
    Acta Anaesthesiol Belg; 2007 Feb 08; 58(2):113-8. PubMed ID: 17710899
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  • 11. Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.
    Wehner M, Rueffert H, Koenig F, Olthoff D.
    Neuromuscul Disord; 2004 Jul 08; 14(7):429-37. PubMed ID: 15210166
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  • 12. Increasing the number of diagnostic mutations in malignant hyperthermia.
    Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, Girard T.
    Hum Mutat; 2009 Apr 08; 30(4):590-8. PubMed ID: 19191329
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  • 13. Mutations in RYR1 in malignant hyperthermia and central core disease.
    Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
    Hum Mutat; 2006 Oct 08; 27(10):977-89. PubMed ID: 16917943
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  • 14. 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 08; 20(2):88-97. PubMed ID: 12124989
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  • 15. 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
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  • 16. 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 08; 60(2):117-24. PubMed ID: 11553045
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  • 17. 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
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  • 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
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  • 19. [Biology of malignant hyperthermia: a disease of the calcium channels of the skeletal muscle].
    Monnier N, Lunardi J.
    Ann Biol Clin (Paris); 2000 Jun 12; 58(2):147-56. PubMed ID: 10760701
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  • 20. 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 12; 84(2):322-9. PubMed ID: 8602662
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