메뉴 건너뛰기




Volumn 58, Issue 2, 2007, Pages 113-118

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families

Author keywords

Genetic diagnosis; In vitro contracture test; Malignant hyperthermia; Ryanodine receptor

Indexed keywords

RYANODINE RECEPTOR 1;

EID: 34447324122     PISSN: 00015164     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (12)
  • 1
    • 33750127160 scopus 로고    scopus 로고
    • 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., Sorentino V., Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia, HUM. MUTAT., 27 (8), 830-834, 2006.
    • (2006) HUM. MUTAT , vol.27 , Issue.8 , pp. 830-834
    • Galli, L.1    Orrico, A.2    Lorenzini, S.3    Censini, S.4    Falciani, M.5    Covacci, A.6    Tegazzin, V.7    Sorentino, V.8
  • 2
    • 0035487452 scopus 로고    scopus 로고
    • Genotype-phenotype comparison of the Swiss malignant hyperthermia population
    • Girard T., Urwyler A., Censier K., Mueller C. R., Zorzato F., Treves S., Genotype-phenotype comparison of the Swiss malignant hyperthermia population, HUM. MUTAT., 18 (4) : 357-358, 2001.
    • (2001) HUM. MUTAT , vol.18 , Issue.4 , pp. 357-358
    • Girard, T.1    Urwyler, A.2    Censier, K.3    Mueller, C.R.4    Zorzato, F.5    Treves, S.6
  • 3
    • 33744959480 scopus 로고    scopus 로고
    • Malignant hyperthermia in Japan : Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
    • Ibarra M. C. A., Wu S., Murayama K., Minami N., Ichihara Y., Kikuchi H., Noguchi S., Hayashi Y. K., Ochiai R., Nishino I., Malignant hyperthermia in Japan : mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing, ANESTHESIOLOGY, 104 (6), 1146-1154, 2006.
    • (2006) ANESTHESIOLOGY , vol.104 , Issue.6 , pp. 1146-1154
    • Ibarra, M.C.A.1    Wu, S.2    Murayama, K.3    Minami, N.4    Ichihara, Y.5    Kikuchi, H.6    Noguchi, S.7    Hayashi, Y.K.8    Ochiai, R.9    Nishino, I.10
  • 6
    • 9844240499 scopus 로고    scopus 로고
    • 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
    • Ording H., 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, ACTA ANAESTHESIOL. SCAND., 41, 955-966, 1997.
    • (1997) ACTA ANAESTHESIOL. SCAND , vol.41 , pp. 955-966
    • Ording, H.1
  • 8
    • 14644397272 scopus 로고    scopus 로고
    • Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north American population
    • Sambuughin N., Holley N., Muldoon S., Brandom B. W., de Bantel A. M., Tobin J. R., Nelson T. E., Goldfarb L. G., Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north American population, ANESTHESIOLOGY, 102, 515-521, 2005.
    • (2005) ANESTHESIOLOGY , vol.102 , pp. 515-521
    • Sambuughin, N.1    Holley, N.2    Muldoon, S.3    Brandom, B.W.4    de Bantel, A.M.5    Tobin, J.R.6    Nelson, T.E.7    Goldfarb, L.G.8
  • 10
    • 0035145133 scopus 로고    scopus 로고
    • Guidelines for the molecular detection of susceptibility to malignant hyperthermia
    • Urwyler A., Deufel T., McCarthy T., West S., Guidelines for the molecular detection of susceptibility to malignant hyperthermia, BR. J. ANAESTH., 86, 283-287, 2001.
    • (2001) BR. J. ANAESTH , vol.86 , pp. 283-287
    • Urwyler, A.1    Deufel, T.2    McCarthy, T.3    West, S.4
  • 12
    • 3242877424 scopus 로고    scopus 로고
    • Weckx S., De Rijk P., Van Broeckhoven C., Del-Favero J., SNPbox : web-based high-throughput primer design from gene to genome, NUCLEIC ACIDS RES., 32 (Web Server issue) : W170-172, 2004.
    • Weckx S., De Rijk P., Van Broeckhoven C., Del-Favero J., SNPbox : web-based high-throughput primer design from gene to genome, NUCLEIC ACIDS RES., 32 (Web Server issue) : W170-172, 2004.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.