(Q33680329)

28 July 2017

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families (English)

1 reference

28 July 2017

malignant hyperthermia

1 reference

R Robinson

1

1 reference

28 July 2017

J L Curran

2

1 reference

28 July 2017

W J Hall

3

1 reference

28 July 2017

P J Halsall

4

1 reference

28 July 2017

P M Hopkins

5

1 reference

28 July 2017

A F Markham

6

1 reference

28 July 2017

A D Stewart

7

1 reference

28 July 2017

S P West

8

1 reference

28 July 2017

F R Ellis

9

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

1 reference

28 July 2017

196-201

1 reference

28 July 2017

3

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Diagnosing malignant hyperthermia susceptibility.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

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.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

The work of the Leeds Malignant Hyperpyrexia Unit, 1971-84.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Dinucleotide repeat polymorphism at the RYR1 locus (19q13.1).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

A second-generation linkage map of the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051241

Deposition of atomic coordinates and other data for crystal structures

30 October 2018

1 reference

12 December 2020

Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle

1 reference

12 December 2020

Genetic linkage analysis of chromosome 19 markers in malignant hyperthermia

1 reference

12 December 2020

Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.3.196

1 reference

28 July 2017

1 reference

28 July 2017

1 reference