-
1
-
-
50549187421
-
Anaesthetics deaths in family
-
10.1016/S0140-6736(60)92690-8
-
Anaesthetics deaths in family. M Denborough R Lovell, Lancet 1960 ii 45 10.1016/S0140-6736(60)92690-8
-
(1960)
Lancet
, vol.2
, pp. 45
-
-
Denborough, M.1
Lovell, R.2
-
2
-
-
0026112314
-
Malignant hyperpyrexia and sudden infant death
-
1872787
-
Malignant hyperpyrexia and sudden infant death. M Denborough, Aust N Z J Obstet Gynaecol 1991 31 91 1872787
-
(1991)
Aust N Z J Obstet Gynaecol
, vol.31
, pp. 91
-
-
Denborough, M.1
-
3
-
-
0032480548
-
Malignant hyperthermia
-
10.1016/S0140-6736(98)03078-5. 9798607
-
Malignant hyperthermia. M Denborough, Lancet 1998 352 1131 1136 10.1016/S0140-6736(98)03078-5 9798607
-
(1998)
Lancet
, vol.352
, pp. 1131-1136
-
-
Denborough, M.1
-
4
-
-
0036840364
-
Presence of two different genetic traits in malignant hyperthermia families: Implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility
-
10.1097/00000542-200211000-00007. 12411788
-
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. N Monnier R Krivosic-Horber JF Payen G Kozak-Ribbens Y Nivoche P Adnet H Reyford J Lunardi, Anesthesiology 2002 97 1067 1074 10.1097/00000542-200211000-00007 12411788
-
(2002)
Anesthesiology
, vol.97
, pp. 1067-1074
-
-
Monnier, N.1
Krivosic-Horber, R.2
Payen, J.F.3
Kozak-Ribbens, G.4
Nivoche, Y.5
Adnet, P.6
Reyford, H.7
Lunardi, J.8
-
5
-
-
0026556355
-
Malignant hyperthermia
-
10.1126/science.1589759. 1589759
-
Malignant hyperthermia. DH MacLennan MS Phillips, Science 1992 256 789 794 10.1126/science.1589759 1589759
-
(1992)
Science
, vol.256
, pp. 789-794
-
-
MacLennan, D.H.1
Phillips, M.S.2
-
6
-
-
0028284933
-
A clinical grading scale to predict malignant hyperthermia susceptibility
-
10.1097/00000542-199404000-00008. 8024130
-
A clinical grading scale to predict malignant hyperthermia susceptibility. MG Larach AR Localio GC Allen MA Denborough FR Ellis GA Gronert RF Kaplan SM Muldoon TE Nelson H Ording, et al. Anesthesiology 1994 80 771 779 10.1097/00000542-199404000-00008 8024130
-
(1994)
Anesthesiology
, vol.80
, pp. 771-779
-
-
Larach, M.G.1
Localio, A.R.2
Allen, G.C.3
Denborough, M.A.4
Ellis, F.R.5
Gronert, G.A.6
Kaplan, R.F.7
Muldoon, S.M.8
Nelson, T.E.9
Ording, H.10
-
7
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
10.1038/343559a0. 1967823
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. DH MacLennan C Duff F Zorzato J Fujii M Phillips RG Korneluk W Frodis BA Britt RG Worton, Nature 1990 343 559 561 10.1038/343559a0 1967823
-
(1990)
Nature
, vol.343
, pp. 559-561
-
-
MacLennan, D.H.1
Duff, C.2
Zorzato, F.3
Fujii, J.4
Phillips, M.5
Korneluk, R.G.6
Frodis, W.7
Britt, B.A.8
Worton, R.G.9
-
8
-
-
0025186845
-
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
-
10.1038/343562a0. 2300206
-
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. TV McCarthy JM Healy JJ Heffron M Lehane T Deufel F Lehmann-Horn M Farrall K Johnson, Nature 1990 343 562 564 10.1038/343562a0 2300206
-
(1990)
Nature
, vol.343
, pp. 562-564
-
-
McCarthy, T.V.1
Healy, J.M.2
Heffron, J.J.3
Lehane, M.4
Deufel, T.5
Lehmann-Horn, F.6
Farrall, M.7
Johnson, K.8
-
9
-
-
0021149183
-
A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group
-
10.1093/bja/56.11.1267. 6487446
-
A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group. Br J Anaesth 1984 56 1267 1269 10.1093/bja/56.11.1267 6487446
-
(1984)
Br J Anaesth
, vol.56
, pp. 1267-1269
-
-
-
10
-
-
0036705958
-
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206 Met (C6617T) mutation
-
10.1034/j.1399-0004.2002.620206.x. 12220451
-
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206 Met (C6617T) mutation. M Wehner H Rueffert F Koenig J Neuhaus D Olthoff, Clin Genet 2002 62 135 146 10.1034/j.1399-0004.2002. 620206.x 12220451
-
(2002)
Clin Genet
, vol.62
, pp. 135-146
-
-
Wehner, M.1
Rueffert, H.2
Koenig, F.3
Neuhaus, J.4
Olthoff, D.5
-
11
-
-
38549167375
-
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia
-
10.1097/01.anes.0000299431.81267.3e. 18212565
-
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. AA Anderson RL Brown B Polster N Pollock KM Stowell, Anesthesiology 2008 108 208 215 10.1097/01.anes.0000299431.81267.3e 18212565
-
(2008)
Anesthesiology
, vol.108
, pp. 208-215
-
-
Anderson, A.A.1
Brown, R.L.2
Polster, B.3
Pollock, N.4
Stowell, K.M.5
-
12
-
-
0030666554
-
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
-
10.1074/jbc.272.42.26332. 9334205
-
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Tong H Oyamada N Demaurex S Grinstein TV McCarthy DH MacLennan, J Biol Chem 1997 272 26332 26339 10.1074/jbc.272.42.26332 9334205
-
(1997)
J Biol Chem
, vol.272
, pp. 26332-26339
-
-
Tong, J.1
Oyamada, H.2
Demaurex, N.3
Grinstein, S.4
McCarthy, T.V.5
MacLennan, D.H.6
-
13
-
-
63749119748
-
Increasing the number of diagnostic mutations in malignant hyperthermia
-
10.1002/humu.20878. 19191329
-
Increasing the number of diagnostic mutations in malignant hyperthermia. S Levano M Vukcevic M Singer A Matter S Treves A Urwyler T Girard, Hum Mutat 2009 30 590 598 10.1002/humu.20878 19191329
-
(2009)
Hum Mutat
, vol.30
, pp. 590-598
-
-
Levano, S.1
Vukcevic, M.2
Singer, M.3
Matter, A.4
Treves, S.5
Urwyler, A.6
Girard, T.7
-
14
-
-
39149130688
-
Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System
-
10.1016/j.ab.2007.11.019. 18082125
-
Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System. H Grievink KM Stowell, Anal Biochem 2008 374 396 404 10.1016/j.ab.2007.11.019 18082125
-
(2008)
Anal Biochem
, vol.374
, pp. 396-404
-
-
Grievink, H.1
Stowell, K.M.2
-
15
-
-
0029002150
-
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
-
7762556
-
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. T Deufel R Sudbrak Y Feist B Rubsam I Du Chesne KL Schafer N Roewer T Grimm F Lehmann-Horn EJ Hartung, et al. Am J Hum Genet 1995 56 1334 1342 7762556
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1334-1342
-
-
Deufel, T.1
Sudbrak, R.2
Feist, Y.3
Rubsam, B.4
Du Chesne, I.5
Schafer, K.L.6
Roewer, N.7
Grimm, T.8
Lehmann-Horn, F.9
Hartung, E.J.10
-
16
-
-
0032976804
-
A case of discordance between genotype and phenotype in a malignant hyperthermia family
-
10.1038/sj.ejhg.5200314. 10352931
-
A case of discordance between genotype and phenotype in a malignant hyperthermia family. G Fortunato A Carsana N Tinto V Brancadoro G Canfora F Salvatore, Eur J Hum Genet 1999 7 415 420 10.1038/sj.ejhg.5200314 10352931
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 415-420
-
-
Fortunato, G.1
Carsana, A.2
Tinto, N.3
Brancadoro, V.4
Canfora, G.5
Salvatore, F.6
-
17
-
-
0037688073
-
Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?
-
10.1038/sj.ejhg.5200964. 12700608
-
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? RL Robinson MJ Anetseder V Brancadoro C van Broekhoven A Carsana K Censier G Fortunato T Girard L Heytens PM Hopkins, et al. Eur J Hum Genet 2003 11 342 348 10.1038/sj.ejhg.5200964 12700608
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 342-348
-
-
Robinson, R.L.1
Anetseder, M.J.2
Brancadoro, V.3
Van Broekhoven, C.4
Carsana, A.5
Censier, K.6
Fortunato, G.7
Girard, T.8
Heytens, L.9
Hopkins, P.M.10
-
18
-
-
0030064170
-
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family
-
10.1097/00000542-199602000-00009. 8602662
-
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. KD Serfas D Bose L Patel K Wrogemann MS Phillips DH MacLennan CR Greenberg, Anesthesiology 1996 84 322 329 10.1097/00000542-199602000-00009 8602662
-
(1996)
Anesthesiology
, vol.84
, pp. 322-329
-
-
Serfas, K.D.1
Bose, D.2
Patel, L.3
Wrogemann, K.4
Phillips, M.S.5
MacLennan, D.H.6
Greenberg, C.R.7
-
19
-
-
0035487452
-
Genotype-phenotype comparison of the Swiss malignant hyperthermia population
-
10.1002/humu.1203. 11668625
-
Genotype-phenotype comparison of the Swiss malignant hyperthermia population. T Girard A Urwyler K Censier CR Mueller F Zorzato S Treves, Hum Mutat 2001 18 357 358 10.1002/humu.1203 11668625
-
(2001)
Hum Mutat
, vol.18
, pp. 357-358
-
-
Girard, T.1
Urwyler, A.2
Censier, K.3
Mueller, C.R.4
Zorzato, F.5
Treves, S.6
-
20
-
-
0036794325
-
Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells
-
10.1093/bja/aef237. 12393358
-
Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells. T Girard S Treves K Censier CR Mueller F Zorzato A Urwyler, Br J Anaesth 2002 89 571 579 10.1093/bja/aef237 12393358
-
(2002)
Br J Anaesth
, vol.89
, pp. 571-579
-
-
Girard, T.1
Treves, S.2
Censier, K.3
Mueller, C.R.4
Zorzato, F.5
Urwyler, A.6
-
21
-
-
0036327205
-
Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations
-
10.1097/00000542-200208000-00010. 12151923
-
Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. M Fiege F Wappler R Weisshorn M Ulrich Gerbershagen M Steinfath Am Schulte J Esch, Anesthesiology 2002 97 345 350 10.1097/00000542-200208000-00010 12151923
-
(2002)
Anesthesiology
, vol.97
, pp. 345-350
-
-
Fiege, M.1
Wappler, F.2
Weisshorn, R.3
Ulrich Gerbershagen, M.4
Steinfath, M.5
Schulte, A.6
Esch, J.7
-
22
-
-
0036843938
-
Detection of regulatory variation in mouse genes
-
10.1038/ng992. 12410233
-
Detection of regulatory variation in mouse genes. CR Cowles JN Hirschhorn D Altshuler ES Lander, Nat Genet 2002 32 432 437 10.1038/ng992 12410233
-
(2002)
Nat Genet
, vol.32
, pp. 432-437
-
-
Cowles, C.R.1
Hirschhorn, J.N.2
Altshuler, D.3
Lander, E.S.4
-
23
-
-
0012789869
-
Allelic variation in gene expression is common in the human genome
-
10.1101/gr.885403. 12902379
-
Allelic variation in gene expression is common in the human genome. HS Lo Z Wang Y Hu HH Yang S Gere KH Buetow MP Lee, Genome Res 2003 13 1855 1862 10.1101/gr.885403 12902379
-
(2003)
Genome Res
, vol.13
, pp. 1855-1862
-
-
Lo, H.S.1
Wang, Z.2
Hu, Y.3
Yang, H.H.4
Gere, S.5
Buetow, K.H.6
Lee, M.P.7
-
25
-
-
0042712609
-
Improved PCR amplification of multiple specific alleles (PAMSA) using internally mismatched primers
-
8816228
-
Improved PCR amplification of multiple specific alleles (PAMSA) using internally mismatched primers. R Okimoto JB Dodgson, Biotechniques 1996 21 20 26 8816228
-
(1996)
Biotechniques
, vol.21
, pp. 20-26
-
-
Okimoto, R.1
Dodgson, J.B.2
-
26
-
-
0022553788
-
A routine method for the establishment of permanent growing lymphoblastoid cell lines
-
10.1007/BF00279094. 3017841
-
A routine method for the establishment of permanent growing lymphoblastoid cell lines. H Neitzel, Hum Genet 1986 73 320 326 10.1007/BF00279094 3017841
-
(1986)
Hum Genet
, vol.73
, pp. 320-326
-
-
Neitzel, H.1
-
27
-
-
0034090681
-
High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR
-
10.1101/gr.10.2.258. 10673283
-
High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. S Germer MJ Holland R Higuchi, Genome Res 2000 10 258 266 10.1101/gr.10.2.258 10673283
-
(2000)
Genome Res
, vol.10
, pp. 258-266
-
-
Germer, S.1
Holland, M.J.2
Higuchi, R.3
-
28
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
10.1093/nar/29.9.e45. 11328886
-
A new mathematical model for relative quantification in real-time RT-PCR. MW Pfaffl, Nucleic Acids Res 2001 29 45 10.1093/nar/29.9.e45 11328886
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 545
-
-
Pfaffl, M.W.1
-
29
-
-
0004820949
-
Actinomycin and DNA transcription
-
10.1073/pnas.82.16.5328. 2410919
-
Actinomycin and DNA transcription. HM Sobell, Proc Natl Acad Sci USA 1985 82 5328 5331 10.1073/pnas.82.16.5328 2410919
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 5328-5331
-
-
Sobell, H.M.1
-
30
-
-
25444491710
-
Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G
-
10.1074/jbc.M504942200. 16046395
-
Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. Y Zhang D Wang AD Johnson AC Papp W Sadee, J Biol Chem 2005 280 32618 32624 10.1074/jbc.M504942200 16046395
-
(2005)
J Biol Chem
, vol.280
, pp. 32618-32624
-
-
Zhang, Y.1
Wang, D.2
Johnson, A.D.3
Papp, A.C.4
Sadee, W.5
-
31
-
-
25444435693
-
Simultaneous quantitative and allele-specific expression analysis with real competitive PCR
-
10.1186/1471-2156-5-8. 15128429
-
Simultaneous quantitative and allele-specific expression analysis with real competitive PCR. C Ding E Maier AA Roscher A Braun CR Cantor, BMC Genet 2004 5 8 10.1186/1471-2156-5-8 15128429
-
(2004)
BMC Genet
, vol.5
, pp. 8
-
-
Ding, C.1
Maier, E.2
Roscher, A.A.3
Braun, A.4
Cantor, C.R.5
-
32
-
-
4143110231
-
The relative position of RyR feet and DHPR tetrads in skeletal muscle
-
10.1016/j.jmb.2004.07.035. 15313613
-
The relative position of RyR feet and DHPR tetrads in skeletal muscle. C Paolini F Protasi C Franzini-Armstrong, J Mol Biol 2004 342 145 153 10.1016/j.jmb.2004.07.035 15313613
-
(2004)
J Mol Biol
, vol.342
, pp. 145-153
-
-
Paolini, C.1
Protasi, F.2
Franzini-Armstrong, C.3
-
33
-
-
33748752700
-
Characterization of recessive RYR1 mutations in core myopathies
-
10.1093/hmg/ddl221. 16940308
-
Characterization of recessive RYR1 mutations in core myopathies. H Zhou N Yamaguchi L Xu Y Wang C Sewry H Jungbluth F Zorzato E Bertini F Muntoni G Meissner S Treves, Hum Mol Genet 2006 15 2791 2803 10.1093/hmg/ddl221 16940308
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2791-2803
-
-
Zhou, H.1
Yamaguchi, N.2
Xu, L.3
Wang, Y.4
Sewry, C.5
Jungbluth, H.6
Zorzato, F.7
Bertini, E.8
Muntoni, F.9
Meissner, G.10
Treves, S.11
-
34
-
-
33751094327
-
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
-
DOI 10.1086/508500
-
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. H Zhou M Brockington H Jungbluth D Monk P Stanier CA Sewry GE Moore F Muntoni, Am J Hum Genet 2006 79 859 868 10.1086/508500 17033962 (Pubitemid 44763400)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 859-868
-
-
Zhou, H.1
Brockington, M.2
Jungbluth, H.3
Monk, D.4
Stanier, P.5
Sewry, C.A.6
Moore, G.E.7
Muntoni, F.8
-
35
-
-
68049126415
-
Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility
-
10.1093/bja/aep108. 19454545
-
Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility. RL Robinson D Carpenter PJ Halsall DE Iles P Booms D Steele PM Hopkins MA Shaw, Br J Anaesth 2009 103 2 220 5 10.1093/bja/aep108 19454545
-
(2009)
Br J Anaesth
, vol.103
, Issue.2
, pp. 220-5
-
-
Robinson, R.L.1
Carpenter, D.2
Halsall, P.J.3
Iles, D.E.4
Booms, P.5
Steele, D.6
Hopkins, P.M.7
Shaw, M.A.8
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