These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 14732615)

  • 41. Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
    Curran JL; Hall WJ; Halsall PJ; Hopkins PM; Iles DE; Markham AF; McCall SH; Robinson RL; West SP; Bridges LR; Ellis FR
    Br J Anaesth; 1999 Aug; 83(2):217-22. PubMed ID: 10618932
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
    Zullo A; Klingler W; De Sarno C; Ferrara M; Fortunato G; Perrotta G; Gravino E; Di Noto R; Lehmann-Horn F; Melzer W; Salvatore F; Carsana A
    Hum Mutat; 2009 Apr; 30(4):E575-90. PubMed ID: 19191333
    [TBL] [Abstract][Full Text] [Related]  

  • 43. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.
    Hernandez-Lain A; Husson I; Monnier N; Farnoux C; Brochier G; Lacène E; Beuvin M; Viou M; Manéré L; Claeys KG; Fardeau M; Lunardi J; Voit T; Romero NB
    Eur J Med Genet; 2011; 54(1):29-33. PubMed ID: 20888934
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
    Treves S; Jungbluth H; Muntoni F; Zorzato F
    Curr Opin Pharmacol; 2008 Jun; 8(3):319-26. PubMed ID: 18313359
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):543. PubMed ID: 16521288
    [No Abstract]   [Full Text] [Related]  

  • 46. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):543. PubMed ID: 16521287
    [No Abstract]   [Full Text] [Related]  

  • 47. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):542. PubMed ID: 16521286
    [No Abstract]   [Full Text] [Related]  

  • 48. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):542. PubMed ID: 16521284
    [No Abstract]   [Full Text] [Related]  

  • 49. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):542. PubMed ID: 16521282
    [No Abstract]   [Full Text] [Related]  

  • 50. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):541-2. PubMed ID: 16521281
    [No Abstract]   [Full Text] [Related]  

  • 51. Gene symbol: RYR1. Disease: malignant hyperthermia.
    Dekomien G; Gencik M; Gencikova A; Klenk Y; Epplen JT
    Hum Genet; 2005 Dec; 118(3-4):541. PubMed ID: 16521280
    [No Abstract]   [Full Text] [Related]  

  • 52. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.
    D'Arcy CE; Bjorksten A; Yiu EM; Bankier A; Gillies R; McLean CA; Shield LK; Ryan MM
    Neurology; 2008 Sep; 71(10):776-7. PubMed ID: 18765655
    [No Abstract]   [Full Text] [Related]  

  • 53. The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes.
    Wehner M; Rueffert H; Koenig F; Meinecke CD; Olthoff D
    Cell Calcium; 2003 Aug; 34(2):163-8. PubMed ID: 12810058
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Core myopathies.
    Jungbluth H; Sewry CA; Muntoni F
    Semin Pediatr Neurol; 2011 Dec; 18(4):239-49. PubMed ID: 22172419
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Central core disease with family history of malignant hyperthermia: report of one case.
    Lee IC; Chen YJ; Fang PC
    Acta Paediatr Taiwan; 2007; 48(4):217-9. PubMed ID: 18265544
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
    Heytens L
    Acta Anaesthesiol Belg; 2007; 58(2):113-8. PubMed ID: 17710899
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Increasing the number of diagnostic mutations in malignant hyperthermia.
    Levano S; Vukcevic M; Singer M; Matter A; Treves S; Urwyler A; Girard T
    Hum Mutat; 2009 Apr; 30(4):590-8. PubMed ID: 19191329
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy.
    Pandey R; Chandratre S; Roberts A; Dwyer JS; Sewry C; Quinlivan R
    Eur J Paediatr Neurol; 2011 Jan; 15(1):70-3. PubMed ID: 20452790
    [TBL] [Abstract][Full Text] [Related]  

  • 59. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
    Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M
    J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.
    Gencik M; Gencik A; Mortier W; Epplen JT
    Hum Mutat; 2000 Jan; 15(1):122. PubMed ID: 10612851
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.