-
1
-
-
16944363674
-
The G1021 A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia in a British pedigree
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 833-841
-
-
Adeokun, A.M.1
-
4
-
-
0032869137
-
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in vitro contracture test
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2055-2062
-
-
Brandt, A.1
-
5
-
-
0026566108
-
Molecular basis of myotonic dystrophy-expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, D.1
-
7
-
-
0030025706
-
Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 363-370
-
-
Chung, E.1
-
9
-
-
0028843482
-
Linkage disequilibrium mapping of type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-33
-
(1996)
Nat. Genet.
, vol.9
, pp. 80-85
-
-
Copeman, J.B.1
-
10
-
-
0032770266
-
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers
-
(1999)
Br. J. Anaesth.
, vol.83
, pp. 217-222
-
-
Curran, J.L.1
-
11
-
-
0026631408
-
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 1151-1161
-
-
Deufel, T.1
-
12
-
-
0029002150
-
Discordance in a malignant hyperthermia pedigree, between the in vitro contracture test phenotypes and haplotypes for the MHS1 region of chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1334-1342
-
-
Deufel, T.1
-
13
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
-
15
-
-
0021149183
-
A protocol for the investigation of malignant hyperthermia susceptibility
-
(1984)
Br. J. Anaesth.
, vol.56
, pp. 1267-1269
-
-
-
16
-
-
0030956156
-
Malignant hyperthermia susceptibility, an autosomal dominant disorder?
-
(1997)
Clin. Genet.
, vol.51
, pp. 365-369
-
-
Fagerlund, T.H.1
-
17
-
-
0031407060
-
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation
-
(1997)
Clin. Genet.
, vol.52
, pp. 416-421
-
-
Fagerlund, T.H.1
-
18
-
-
0025968910
-
Rapid detection of CA polymorphisms in cloned cDNA : Application to the 5' region of the Dystrophin gene
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 627
-
-
Feener, C.A.1
-
20
-
-
0026319058
-
Identification of a mutation in the porcine ryanodine receptor that is associated with malignant hyperthermia
-
(1991)
Science
, vol.253
, pp. 448-451
-
-
Fujii, J.1
-
21
-
-
0026246360
-
Substitution of cysteine for argenine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia
-
(1991)
Genomics
, vol.11
, pp. 751-755
-
-
Gillard, E.F.1
-
22
-
-
0026662792
-
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor gone (RYR1) in individuals with malignant hyperthermia
-
(1992)
Genomics
, vol.13
, pp. 1247-1254
-
-
Gillard, E.F.1
-
23
-
-
0027532167
-
Assignment of the human gene for the α1-subunit of the skeletal muscle DHP-sensitive Ca(2 +) channel (CACNA1S) to chromosome 1q31-q32
-
(1993)
Genomics
, vol.15
, pp. 107-112
-
-
Gregg, R.G.1
-
28
-
-
4244092969
-
Screening for malignant hyperthermia susceptibility
-
Hyperthermic and Hypermetabolic disorders (eds. Hopkins, P. M. and Ellis, F. R.) Cambridge University Press, Cambridge
-
(1996)
, pp. 157-173
-
-
Halsall, P.J.1
-
30
-
-
0028832203
-
Efficiency of typing unaffected relatives in an affected sib-pair linkage study with single locus and multiple tightly linked markers
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1221-1232
-
-
Holmans, P.1
Clayton, D.2
-
32
-
-
0026574597
-
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
-
(1992)
Genomics
, vol.14
, pp. 749-754
-
-
Iles, D.E.1
-
33
-
-
0027279886
-
Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 863-868
-
-
Iles, D.E.1
-
34
-
-
0028243282
-
Localisation of the gene encoding the α2/δ 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
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 969-975
-
-
Iles, D.E.1
-
40
-
-
0026526444
-
Evidence for the localisation of a malignant hyperthermia susceptibility locus (MHS2) to chromosome 17q
-
(1992)
Genomics
, vol.14
, pp. 562-566
-
-
Levitt, R.C.1
-
41
-
-
0030933491
-
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred
-
(1997)
Anesthesiology
, vol.86
, pp. 620-626
-
-
Lynch, P.J.1
-
42
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
(1990)
Nature
, vol.343
, pp. 559-561
-
-
MacLennan, D.H.1
-
43
-
-
17344368549
-
Identification of novel mutations in the ryanodine receptor gene (RYR1) in malignant hyperthermia : Genotype-phenotype correlation
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 599-609
-
-
Manning, B.M.1
-
44
-
-
0025186845
-
Localisation of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
-
(1990)
Nature
, vol.343
, pp. 562-564
-
-
McCarthy, T.V.1
-
48
-
-
0030922550
-
Malignant hyperthermia susceptibility is associated with a mutation of the α1-subunit of the dihydropyridine sensitive L-type voltage dependent calcium channel receptor in skeletal muscle
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1316-1325
-
-
Monnier, N.1
-
50
-
-
9844240499
-
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH group : Results of testing patients surviving fulminant MH and unrelated low-risk subjects
-
(1997)
Acta. Anaesthesiol. Scan.
, vol.41
, pp. 955-966
-
-
Ording, H.1
-
51
-
-
0028177821
-
2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 9413-9415
-
-
Otsu, K.1
-
53
-
-
0027250785
-
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
-
(1993)
Nat. Genet.
, vol.5
, pp. 51-55
-
-
Quane, K.1
-
54
-
-
0027994061
-
Mutation screening of the RYR1 gene in malignant hyperthermia : Detection of a novel Tyr to Ser mutation in a pedigree with associated central cores
-
(1994)
Genomics
, vol.23
, pp. 236-239
-
-
Quane, K.1
-
56
-
-
0031057519
-
Functional characterisation of a distinct ryanodine receptor mutation in Human malignant hyperthermia-susceptible muscle
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 5256-5260
-
-
Richter, M.1
-
57
-
-
0031922519
-
Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families
-
(1998)
J. Med. Genet.
, vol.35
, pp. 196-201
-
-
Robinson, R.L.1
-
58
-
-
8244242525
-
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 953-961
-
-
Robinson, R.L.1
-
60
-
-
0029314872
-
Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7
-
(1995)
Nat. Genet.
, vol.10
, pp. 240-242
-
-
Rowe, R.E.1
-
66
-
-
0027313278
-
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1-, β1-, and γ-subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 857-862
-
-
Sudbrak, R.1
-
67
-
-
0028929891
-
Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 684-691
-
-
Sudbrak, R.1
-
70
-
-
0030666554
-
2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 26332-26339
-
-
Tong, J.1
-
73
-
-
0029996262
-
A complex satellite DNA polymorphism flanking the human ryanodine receptor gone RYR1
-
(1996)
Cytogenet. Cell Genet.
, vol.72
, Issue.2-3
, pp. 215-216
-
-
Wolz, W.1
-
74
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
(1993)
Nat. Genet.
, vol.5
, pp. 46-50
-
-
Zhang, Y.1
|