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2. C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response. Steinfath M; Singh S; Scholz J; Becker K; Lenzen C; Wappler F; Köchling A; Roewer N; Schulte am Esch J J Mol Med (Berl); 1995 Jan; 73(1):35-40. PubMed ID: 7633940 [TBL] [Abstract][Full Text] [Related]
3. Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. Fiege M; Wappler F; Weisshorn R; Ulrich Gerbershagen M; Steinfath M; Schulte Am Esch J Anesthesiology; 2002 Aug; 97(2):345-50. PubMed ID: 12151923 [TBL] [Abstract][Full Text] [Related]
4. A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. Fagerlund TH; Islander G; Twetman ER; Berg K Clin Genet; 1995 Jul; 48(1):12-6. PubMed ID: 7586638 [TBL] [Abstract][Full Text] [Related]
5. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Rueffert H; Olthoff D; Deutrich C; Meinecke CD; Froster UG Acta Anaesthesiol Scand; 2002 Jul; 46(6):692-8. PubMed ID: 12059893 [TBL] [Abstract][Full Text] [Related]
6. 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; 60(2):117-24. PubMed ID: 11553045 [TBL] [Abstract][Full Text] [Related]
7. [In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method]. Rüffert H; Olthoff D; Deutrich C; Thamm B; Froster U Anaesthesist; 2000 Feb; 49(2):113-20. PubMed ID: 10756965 [TBL] [Abstract][Full Text] [Related]
8. Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. Fagerlund T; Ording H; Bendixen D; Berg K Clin Genet; 1994 Dec; 46(6):401-4. PubMed ID: 7889656 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. 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 [TBL] [Abstract][Full Text] [Related]
11. 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; 20(2):88-97. PubMed ID: 12124989 [TBL] [Abstract][Full Text] [Related]
12. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). Roberts MC; Mickelson JR; Patterson EE; Nelson TE; Armstrong PJ; Brunson DB; Hogan K Anesthesiology; 2001 Sep; 95(3):716-25. PubMed ID: 11575546 [TBL] [Abstract][Full Text] [Related]
13. RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. Fagerlund T; Ording H; Bendixen D; Islander G; Ranklev-Twetman E; Berg K Clin Genet; 1996 Apr; 49(4):186-8. PubMed ID: 8828983 [TBL] [Abstract][Full Text] [Related]
14. Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers. Fagerlund TH; Islander G; Ranklev-Twetman E; Berg K Clin Genet; 1996 Dec; 50(6):455-8. PubMed ID: 9147872 [TBL] [Abstract][Full Text] [Related]
15. 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; 9(10):1515-24. PubMed ID: 10888602 [TBL] [Abstract][Full Text] [Related]
16. Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family. Rueffert H; Olthoff D; Deutrich C; Thamm B; Froster UG Br J Anaesth; 2001 Aug; 87(2):240-5. PubMed ID: 11493496 [TBL] [Abstract][Full Text] [Related]
17. Screening for mutations in the RYR1 gene in families with malignant hyperthermia. Muniz VP; Silva HC; Tsanaclis AM; Vainzof M J Mol Neurosci; 2003; 21(1):35-42. PubMed ID: 14500992 [TBL] [Abstract][Full Text] [Related]
19. 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 [TBL] [Abstract][Full Text] [Related]
20. In vitro diagnosis of malignant hyperthermia susceptibility with ryanodine-induced contractures in human skeletal muscles. Wappler F; Roewer N; Köchling A; Scholz J; Steinfath M; Schulte am Esch J Anesth Analg; 1996 Jun; 82(6):1230-6. PubMed ID: 8638796 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]