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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

265 related items for PubMed ID: 7829078

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  • 22. Mutations in RYR1 in malignant hyperthermia and central core disease.
    Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
    Hum Mutat; 2006 Oct; 27(10):977-89. PubMed ID: 16917943
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  • 24. 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 Oct; 28(6):409-16. PubMed ID: 19919814
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  • 29. 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; 108(2):208-15. PubMed ID: 18212565
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  • 30. 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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  • 32. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
    Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P.
    Hum Mol Genet; 1994 Mar; 3(3):471-6. PubMed ID: 8012359
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  • 35. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
    Keating KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJ, McCarthy TV.
    J Med Genet; 1997 Apr; 34(4):291-6. PubMed ID: 9138151
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  • 36. 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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  • 37. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.
    Adeokun AM, West SP, Ellis FR, Halsall PJ, Hopkins PM, Foroughmand AM, Iles DE, Robinson RL, Stewart AD, Curran JL.
    Am J Hum Genet; 1997 Apr; 60(4):833-41. PubMed ID: 9106529
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  • 38. Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
    Kraeva N, Riazi S, Loke J, Frodis W, Crossan ML, Nolan K, Kraev A, Maclennan DH.
    Can J Anaesth; 2011 Jun; 58(6):504-13. PubMed ID: 21455645
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  • 40. 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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