Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives (Q28301903)

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English	Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives	scientific article

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scholarly article

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17 January 2020

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives (English)

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17 January 2020

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hypertrophic cardiomyopathy

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Paal S Andersen

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Morten S Jensen

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Paula Louise Hedley

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Henning Bundgaard

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17 January 2020

Alex R B Thomsen

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Alex Rojas Bie Thomsen

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Ole Havndrup

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17 January 2020

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Lotte Hougs

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17 January 2020

Johanna C. Moolman-Smook

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object named as

Johanna Moolman-Smook

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17 January 2020

Michael Christiansen

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object named as

Michael Christiansen

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author name string

Karina M Sørensen

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publication date

1 March 2009

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17 January 2020

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363-370

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17 January 2020

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/10.1002%2FHUMU.20862

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

21 January 2018

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

21 January 2018

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Refined localization of the human alpha-tropomyosin gene (TPM1) by genetic mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

21 January 2018

Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

21 January 2018

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

21 January 2018

Familial Hypertrophic Cardiomyopathy-linked Alterations in Ca2+ Binding of Human Cardiac Myosin Regulatory Light Chain Affect Cardiac Muscle Contraction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Binary specification of nonsense codons by splicing and cytoplasmic translation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

21 January 2018

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

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/10.1002%2FHUMU.20862

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

7 January 2021

based on heuristic

inferred from DOI database lookup

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of dignostic abnormalities in patients with genetically transmitted asymmetric septal hypertrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20862

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20862

2 references

Consolidated OpenCitations Corpus – April 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19035361%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19035361%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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