| 1 | MHS1, RYR1
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| Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
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| Brandom BW, Bina S, Wong CA, Wallace T, Visoiu M, Isackson PJ, Vladutiu GD, Sambuughin N, Muldoon SM.
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| Anesth Analg 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. Epub 2013 Apr 4.
2013
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| 2 | MHS1, RYR1
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| King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
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| Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H.
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| Neuromuscul Disord 21(6):420-7. Epub 2011 Apr 22.
2011
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| 3 | MHS1, RYR1
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| Analysis of RYR1 haplotype profile in patients with malignant hyperthermia.
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| Carpenter D, Morris A, Robinson RL, Booms P, Iles D, Halsall PJ, Steele D, Hopkins PM, Shaw MA.
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| Ann Hum Genet 73(1):10-8. doi: 10.1111/j.1469-1809.2008.00482.x. Epub 2008 Oct 15.
2009
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| 4 | RYR1, CCO, MHS1
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| Mutations in RYR1 in malignant hyperthermia and central core disease.
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| Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
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| Hum Mutat 27(10):977-89. Review. 2006
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| 5 | MHS1, MHS5, CACNA1S, RYR1
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| Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
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| Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
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| Hum Mutat 26(5):413-25. 2005
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| 6 | RYR1, MHS1
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| Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
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| Muniz VP, Silva HC, Tsanaclis AM, Vainzof M.
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| J Mol Neurosci 21(1):35-42. 2003
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| 7 | MHS1, RYR1
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| Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
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| McWilliams S, Nelson T, Sudo R, Zapata-Sudo G, Batti M, Sambuughin N.
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| Clin Genet 62(1):80-83. 2002
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| 8 | CCO, MHS1, RYR1
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| RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
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| Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.
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| Hum Mutat 20(2):88-97. 2002
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| 9 | MHS1, RYR1
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| Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
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| Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE.
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| Am J Hum Genet 69(1):204-8. 2001
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| 10 | CCO, MHS1, RYR1
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| Ryanodine receptor mutations in malignant hyperthermia and central core disease.
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| McCarthy TV, Quane KA, Lynch PJ.
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| Hum Mutat 15(5):410-7. 2000
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| 11 | MHS1, MHS2, MHS6
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| Multiple interacting gene products may influence susceptibility to malignant hyperthermia.
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| Robinson RL, Curran JL, Ellis FR, Halsall PJ, Hall HWJ, Hopkins PM, Iles DE, West SP, Shaw MA.
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| Ann Hum Genet 64 : 307-320. 2000
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| 12 | MHS1, RYR1
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| A case of discordance between genotype and phenotype in a malignant hyperthermia family.
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| Fortunato G, et al.
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| Eur J Hum Genet 7(4):415-20. 1999
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| 13 | MHS1, RYR1
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| Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
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| Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV.
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| Hum Mutat 11(1):45-50. 1998
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| 14 | MHS1, RYR1
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| Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia : genotype-phenotype correlation.
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| Manning BM, et al.
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| Am J Hum Genet 62 : 599-609. 1998
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| 15 | MHS1, RYR1
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| 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.
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| Keating KE, et al.
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| J Med Genet 34 : 291-296. 1997
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| 16 | MHS1, RYR1
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| The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.
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| Adeokun AM, et al.
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| Am J Hum Genet 60 : 833-841. 1997
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| 17 | AMCD1, IBM2, MHS1, PYGM
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| The preliminary transcript map of a human skeletal muscle.
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| Pallavicini A, Zimbello R, Tiso N, Muraro T, Rampoldi L, Bortoluzzi S, Valle G, Lanfranchi G, Danieli GA.
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| Hum Mol Genet 6(9):1445-50. 1997
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| 18 | RYR1, MHS1
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| RYR mutation G1021A (GLY341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.
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| Fagerlund T, et al.
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| Clin Genet 49 : 186-188. 1996
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| 19 | CCO, MHS1, RYR1
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| Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.
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| Fagerlund TH, et al.
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| Clin Genet 50 : 455-458. 1996
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| 20 | MHS1, RYR1
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| A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.
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| Alestršm A, et al.
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| Clin Genet 47 : 274-275. 1995
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| 21 | MHS1, RYR1
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| 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.
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| Deufel T, et al.
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| Am J Hum Genet 56 : 1334-1342. 1995
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| 22 | MHS1, RYR1
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| Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia : implications for diagnosis and heterogeneity studies.
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| Quane KA, et al.
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| Hum Mol Genet 3 : 471-476. 1994
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| 23 | MHS1
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| The point mutation Arg615-Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia.
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| Otsu K, et al.
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| J Biol Chem 269 : 9413-9415. 1994
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| 24 | MHS1, RYR1, CCO
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| Mutation screening of the RYR1 gene in malignant hyperthermia : detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
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| Quane KA, et al.
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| Genomics 23 : 236-239. 1994
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| 25 | RYR1, MHS1
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| Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
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| Keating KE, et al.
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| Hum Mol Genet 3 : 1855-1858. 1994
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| 26 | MHS1, RYR1
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| The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
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| Phillips MS, et al.
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| Hum Mol Genet 3 : 2181-2186. 1994
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| 27 | MHS1, RYR1, CCO
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| Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
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| Quane KA, et al.
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| Nat Genet 5 : 51-55. 1993
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| 28 | MHS1
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| Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle.
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| Fagerlund T, et al.
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| Clin Genet 41 : 270-272. 1992
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| 29 | MHS1
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| Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
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| Deufel T, et al.
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| Am J Hum Genet 50 : 1151-1161. 1992
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| 30 | MHS1
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| Two recombinations between malignant hyperthermia susceptibility (MHS) and human ryanodine receptor (RYR1) in a single family : another for MHS?
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| Deufel T, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2018-2019. 1991
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| 31 | MHS1
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| Linkage mapping of malignant hyperthermia to the skeletal muscle ryanodine receptor (RYR1) on chromosome 19.
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| Couch F, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2018. 1991
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| 32 | MHS1
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| Genetic linkage analysis using microsatellites in human malignant hyperthermia.
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| Stewart AD, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2025-2026. 1991
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| 33 | MHS1
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| Evidence for genetic heterogeneity in malignant hyperthermia susceptibility.
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| Levitt RC, et al.
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| Genomics 11 : 543-547. 1991
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| 34 | MHS1
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| A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
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| Gillard EF, et al.
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| Genomics 11 : 751-755. 1991
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| 35 | MHS1
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| A linkage study of malignant hyperthermia (MH).
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| Bender K, et al.
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| Clin Genet 37 : 221-225. 1990
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| 36 | MHS1
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| Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.
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| McCarthy TV, et al.
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| Nature 343 : 562-564. 1990
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| 37 | MHS1, RYR1
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| Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
|
| MacLennan DH, et al.
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| Nature 343 : 559-561. 1990
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| 38 | MHS1, RYR1
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| Location of the human ryanodine receptor gene with respect to an established human chromosome 19 linkage group.
|
| MacKenzie AE, et al.
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| Am J Hum Genet 45 : A149. 1989
|