BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

541 related articles for article (PubMed ID: 10888602)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. [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]  

  • 6. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV; Quane KA; Lynch PJ
    Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
    Monnier N; Romero NB; Lerale J; Nivoche Y; Qi D; MacLennan DH; Fardeau M; Lunardi J
    Hum Mol Genet; 2000 Nov; 9(18):2599-608. PubMed ID: 11063719
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
    Lynch PJ; Krivosic-Horber R; Reyford H; Monnier N; Quane K; Adnet P; Haudecoeur G; Krivosic I; McCarthy T; Lunardi J
    Anesthesiology; 1997 Mar; 86(3):620-6. PubMed ID: 9066328
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
    Rueffert H; Olthoff D; Deutrich C; Schober R; Froster UG
    Am J Med Genet A; 2004 Jan; 124A(3):248-54. PubMed ID: 14708096
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 23(1):236-9. PubMed ID: 7829078
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.
    Loke JC; Kraev N; Sharma P; Du G; Patel L; Kraev A; MacLennan DH
    Anesthesiology; 2003 Aug; 99(2):297-302. PubMed ID: 12883402
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
    Quane KA; Ording H; Keating KE; Manning BM; Heine R; Bendixen D; Berg K; Krivosic-Horber R; Lehmann-Horn F; Fagerlund T; McCarthy TV
    Br J Anaesth; 1997 Sep; 79(3):332-7. PubMed ID: 9389851
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 28.