Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy (Q84963229)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

title

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

13 February 2020

main subject

1 reference

Gilles Millat

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

Valérie Chanavat

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

Hervé Créhalet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

Robert Rousson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20800588

3 July 2024

publication date

26 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

full work available at URL

13 February 2020

https://api.elsevier.com/content/article/PII:S0009898110005140?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

https://api.elsevier.com/content/article/PII:S0009898110005140?httpAccept=text/plain

3 July 2024

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

3 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

volume

411

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

issue

23-24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

1983-1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

Hypertrophic cardiomyopathy: a systematic review

13 February 2020

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Genetics of hypertrophic cardiomyopathy

3 July 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

The 2009 international hypertrophic cardiomyopathy summit.

3 July 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

3 July 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

3 July 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

3 July 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease

3 July 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

3 July 2024

8

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

3 July 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

3 July 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy

3 July 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

3 July 2024

12

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

3 July 2024

13

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.

3 July 2024

14

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy

3 July 2024

15

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

High-resolution DNA melting analysis in clinical research and diagnostics

3 July 2024

16

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

High resolution melting analysis for gene scanning

3 July 2024

17

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

3 July 2024

18

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

3 July 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes

3 July 2024

20

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

3 July 2024

21

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region

3 July 2024

22

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

3 July 2024

23

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family

3 July 2024

24

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

3 July 2024

25

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

3 July 2024

26

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

3 July 2024

27

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

3 July 2024

29

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

3 July 2024

30

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy

3 July 2024

31

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.

3 July 2024

32

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene

3 July 2024

33

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis

3 July 2024

34

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

3 July 2024

35

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

3 July 2024

36

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

3 July 2024

37

1 reference

https://api.crossref.org/works/10.1016/J.CCA.2010.08.017

3 July 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800588 AND SRC:MED&resulttype=core&format=json

13 February 2020

1 reference