BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 7887423)

  • 1. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.
    Sudbrak R; Procaccio V; Klausnitzer M; Curran JL; Monsieurs K; van Broeckhoven C; Ellis R; Heyetens L; Hartung EJ; Kozak-Ribbens G
    Am J Hum Genet; 1995 Mar; 56(3):684-91. PubMed ID: 7887423
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.
    Sudbrak R; Golla A; Hogan K; Powers P; Gregg R; Du Chesne I; Lehmann-Horn F; Deufel T
    Hum Mol Genet; 1993 Jul; 2(7):857-62. PubMed ID: 8395939
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
    Robinson RL; Monnier N; Wolz W; Jung M; Reis A; Nuernberg G; Curran JL; Monsieurs K; Stieglitz P; Heytens L; Fricker R; van Broeckhoven C; Deufel T; Hopkins PM; Lunardi J; Mueller CR
    Hum Mol Genet; 1997 Jun; 6(6):953-61. PubMed ID: 9175745
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [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]  

  • 6. High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families.
    Iles DE; Segers B; Heytens L; Sengers RC; Wieringa B
    Genomics; 1992 Nov; 14(3):749-54. PubMed ID: 1427902
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.
    Iles DE; Segers B; Sengers RC; Monsieurs K; Heytens L; Halsall PJ; Hopkins PM; Ellis FR; Hall-Curran JL; Stewart AD
    Hum Mol Genet; 1993 Jul; 2(7):863-8. PubMed ID: 8395940
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.
    McCarthy TV; Healy JM; Heffron JJ; Lehane M; Deufel T; Lehmann-Horn F; Farrall M; Johnson K
    Nature; 1990 Feb; 343(6258):562-4. PubMed ID: 2300206
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.
    Iles DE; Lehmann-Horn F; Scherer SW; Tsui LC; Olde Weghuis D; Suijkerbuijk RF; Heytens L; Mikala G; Schwartz A; Ellis FR
    Hum Mol Genet; 1994 Jun; 3(6):969-75. PubMed ID: 7951247
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.
    Robinson R; Curran JL; Hall WJ; Halsall PJ; Hopkins PM; Markham AF; Stewart AD; West SP; Ellis FR
    J Med Genet; 1998 Mar; 35(3):196-201. PubMed ID: 9541102
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
    Deufel T; Golla A; Iles D; Meindl A; Meitinger T; Schindelhauer D; DeVries A; Pongratz D; MacLennan DH; Johnson KJ
    Am J Hum Genet; 1992 Jun; 50(6):1151-61. PubMed ID: 1598899
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
    MacLennan DH; Duff C; Zorzato F; Fujii J; Phillips M; Korneluk RG; Frodis W; Britt BA; Worton RG
    Nature; 1990 Feb; 343(6258):559-61. PubMed ID: 1967823
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.
    MacLennan DH; Otsu K; Fujii J; Zorzato F; Phillips MS; O'Brien PJ; Archibald AL; Britt BA; Gillard EF; Worton RG
    Symp Soc Exp Biol; 1992; 46():189-201. PubMed ID: 1341035
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.
    Monnier N; Procaccio V; Stieglitz P; Lunardi J
    Am J Hum Genet; 1997 Jun; 60(6):1316-25. PubMed ID: 9199552
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.