(Q38341944)

English

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

scientific article

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

haploinsufficiency

0 references

hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

familial hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

object named as

Lars A Larsen

4

0 references

Paal S Andersen

object named as

Paal S Andersen

1

0 references

Henning Bundgaard

object named as

Henning Bundgaard

3

0 references

2

object named as

Ole Havndrup

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Michael Christiansen

8

object named as

Michael Christiansen

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

5

object named as

Jens Vuust

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Keld Per Kjeldsen

7

object named as

Keld Kjeldsen

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

author name string

Anders K Pedersen

6

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

publication date

1 August 2004

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

673-677

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (2).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Hypertrophic cardiomyopathy. Clinical spectrum and treatment.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

The management of hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Transcription factor haploinsufficiency: when half a loaf is not enough

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

21 January 2018

An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

7 January 2021

based on heuristic

inferred from DOI database lookup

Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy. A wide angle, two dimensional echocardiographic study of 125 patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

7 January 2021

based on heuristic

inferred from DOI database lookup

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201190

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201190

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38341944&oldid=2201585848"