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Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV. Manning BM, et al. Among authors: tegazzin v. Am J Hum Genet. 1998 Mar;62(3):599-609. doi: 10.1086/301748. Am J Hum Genet. 1998. PMID: 9497245 Free PMC article.
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.
Ording H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, Halsall PJ, Hartung E, Heffron JJ, Heytens L, Kozak-Ribbens G, Kress H, Krivosic-Horber R, Lehmann-Horn F, Mortier W, Nivoche Y, Ranklev-Twetman E, Sigurdsson S, Snoeck M, Stieglitz P, Tegazzin V, Urwyler A, Wappler F. Ording H, et al. Among authors: tegazzin v. Acta Anaesthesiol Scand. 1997 Sep;41(8):955-66. doi: 10.1111/j.1399-6576.1997.tb04820.x. Acta Anaesthesiol Scand. 1997. PMID: 9311391
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV. Manning BM, et al. Among authors: tegazzin v. Hum Mutat. 1998;11(1):45-50. doi: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K. Hum Mutat. 1998. PMID: 9450902 No abstract available.
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. Robinson RL, et al. Among authors: tegazzin v. Eur J Hum Genet. 2003 Apr;11(4):342-8. doi: 10.1038/sj.ejhg.5200964. Eur J Hum Genet. 2003. PMID: 12700608
33 results