409 related articles for article (PubMed ID: 14500992)
1. 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]
2. 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]
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
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. 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]
7. 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; 26(5):413-25. PubMed ID: 16163667
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
Gillies RL; Bjorksten AR; Davis M; Du Sart D
Anaesth Intensive Care; 2008 May; 36(3):391-403. PubMed ID: 18564801
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. [What significance to genotype changes have in diagnosis of malignant hyperthermia?].
Steinfath M; Scholz J; Singh S; Wappler F
Anasthesiol Intensivmed Notfallmed Schmerzther; 1996 Aug; 31(6):334-43. PubMed ID: 8962927
[TBL] [Abstract][Full Text] [Related]
14. 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; 28(6):409-16. PubMed ID: 19919814
[TBL] [Abstract][Full Text] [Related]
15. Genetics of malignant hyperthermia.
Brandom BW
ScientificWorldJournal; 2006 Dec; 6():1722-30. PubMed ID: 17195870
[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. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
Sambuughin N; McWilliams S; de Bantel A; Sivakumar K; Nelson TE
Am J Hum Genet; 2001 Jul; 69(1):204-8. PubMed ID: 11389482
[TBL] [Abstract][Full Text] [Related]
18. Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.
Deufel T; Sudbrak R; Feist Y; Rübsam B; Du Chesne I; Schäfer KL; Roewer N; Grimm T; Lehmann-Horn F; Hartung EJ
Am J Hum Genet; 1995 Jun; 56(6):1334-42. PubMed ID: 7762556
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
