(Q44407009)

2 December 2017

title

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (English)

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2 December 2017

main subject

malignant hyperthermia

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7

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2 December 2017

19

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2 December 2017

Robinson RL

1

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2 December 2017

Anetseder MJ

2

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2 December 2017

Brancadoro V

3

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2 December 2017

van Broekhoven C

4

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2 December 2017

Carsana A

5

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2 December 2017

Censier K

6

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2 December 2017

Girard T

8

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2 December 2017

Heytens L

9

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2 December 2017

Hopkins PM

10

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2 December 2017

Jurkat-Rott K

11

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2 December 2017

Klinger W

12

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2 December 2017

Kozak-Ribbens G

13

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2 December 2017

Krivosic R

14

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2 December 2017

Monnier N

15

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2 December 2017

Nivoche Y

16

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2 December 2017

Olthoff D

17

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2 December 2017

Rueffert H

18

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2 December 2017

Tegazzin V

20

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2 December 2017

Mueller CR

21

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2 December 2017

publication date

1 April 2003

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European Journal of Human Genetics

2 December 2017

published in

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2 December 2017

volume

11

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2 December 2017

issue

4

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2 December 2017

page(s)

342-348

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Malignant hyperthermia: advances in clinical management and diagnosis

2 December 2017

cites work

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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. The European Malignant Hyperthermia Group.

21 January 2018

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Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

21 January 2018

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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.

21 January 2018

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A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

21 January 2018

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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

21 January 2018

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Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

21 January 2018

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Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

21 January 2018

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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

21 January 2018

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Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

21 January 2018

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A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

21 January 2018

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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

21 January 2018

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Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

21 January 2018

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

21 January 2018

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Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

21 January 2018

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Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

21 January 2018

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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

21 January 2018

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A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

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Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

21 January 2018

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Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

21 January 2018

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Ryanodine contracture: a potentially specific in vitro diagnostic test for malignant hyperthermia.

21 January 2018

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RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

21 January 2018

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Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

21 January 2018

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Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200964

Endocrine and metabolic disorders in anaesthesia and intensive care

21 January 2018

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7 January 2021

A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

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7 January 2021

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7 January 2021

Malignant hyperthermia susceptibility, an autosomal dominant disorder?

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7 January 2021

Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200964

7 January 2021

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200964

7 January 2021

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200964

7 January 2021

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200964

7 January 2021

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200964

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200964

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2 December 2017

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