Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy (Q34445272)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25351510%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25351510%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

22 February 2020

main subject

1 reference

based on heuristic

inferred from title

high-throughput sequencing

1 reference

1 reference

11

1 reference

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22 February 2020

Luis R Lopes

1

1 reference

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22 February 2020

Petros Syrris

2

1 reference

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22 February 2020

Constantinos O'Mahony

4

1 reference

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22 February 2020

Lorenzo Monserrat

9

1 reference

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22 February 2020

William McKenna

10

1 reference

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22 February 2020

Perry M Elliott

12

1 reference

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22 February 2020

author name string

Oliver P Guttmann

3

1 reference

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22 February 2020

Hak Chiaw Tang

5

1 reference

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22 February 2020

Mike Hubank

8

1 reference

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22 February 2020

Chrysoula Dalageorgou

6

1 reference

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22 February 2020

Sharon Jenkins

7

1 reference

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22 February 2020

language of work or name

English

0 references

publication date

28 October 2014

1 reference

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22 February 2020

1 reference

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22 February 2020

volume

101

1 reference

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22 February 2020

issue

4

1 reference

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22 February 2020

page(s)

294-301

1 reference

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A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations

22 February 2020

cites work

1 reference

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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

6 July 2018

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Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

6 July 2018

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The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

6 July 2018

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Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.

6 July 2018

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

6 July 2018

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Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

6 July 2018

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Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

6 July 2018

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Cardiac ankyrins in health and disease

6 July 2018

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Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

6 July 2018

1 reference

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Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy

6 July 2018

1 reference

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

6 July 2018

1 reference

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Sudden death in hypertrophic cardiomyopathy: identification of high risk patients.

6 July 2018

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Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

6 July 2018

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

6 July 2018

1 reference

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Sudden death due to troponin T mutations

6 July 2018

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2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the Ameri

6 July 2018

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Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

21 January 2018

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

21 January 2018

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Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

1 reference

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Genotype: phenotype correlations in hypertrophic cardiomyopathy

27 October 2018

1 reference

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Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes

27 October 2018

1 reference

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

21 January 2018

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Hypertrophic cardiomyopathy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25351510

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/HEARTJNL-2014-306387

1 reference

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22 February 2020

1 reference

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22 February 2020

1 reference

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