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485 related items for PubMed ID: 16835904

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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; 30(4):590-8. PubMed ID: 19191329
    [Abstract] [Full Text] [Related]

  • 5. 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; 366(4):372-5. PubMed ID: 12237752
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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
    [Abstract] [Full Text] [Related]

  • 7. Malignant hyperthermia and central core disease causative mutations in Swedish patients.
    Broman M, Islander G, Müller CR, Ranklev-Twetman E.
    Acta Anaesthesiol Scand; 2007 Jan; 51(1):50-3. PubMed ID: 17081152
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  • 8. 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]

  • 9. 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 Apr; 28(6):409-16. PubMed ID: 19919814
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
    Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF.
    Arch Neurol; 2004 Jan 01; 61(1):106-13. PubMed ID: 14732627
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 108(2):208-15. PubMed ID: 18212565
    [Abstract] [Full Text] [Related]

  • 13. Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature.
    Nishio H, Sato T, Fukunishi S, Tamura A, Iwata M, Tsuboi K, Suzuki K.
    Leg Med (Tokyo); 2009 May 01; 11(3):142-3. PubMed ID: 19223216
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  • 19. 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 01; 26(5):413-25. PubMed ID: 16163667
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  • 20. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
    Heytens L.
    Acta Anaesthesiol Belg; 2007 Nov 01; 58(2):113-8. PubMed ID: 17710899
    [Abstract] [Full Text] [Related]

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