(Q84713334)

English

Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy

scientific article published on 05 August 2011

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21823217%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21823217%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

restrictive cardiomyopathy

1 reference

based on heuristic

inferred from title

author name string

Colleen Caleshu

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21823217%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rahul Sakhuja

2

1 reference

Europe PubMed Central

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9 February 2020

Robert L Nussbaum

3

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Europe PubMed Central

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9 February 2020

Nelson B Schiller

4

1 reference

Europe PubMed Central

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9 February 2020

Philip C Ursell

5

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9 February 2020

Celeste Eng

6

1 reference

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9 February 2020

Teresa De Marco

7

1 reference

Europe PubMed Central

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9 February 2020

Dana McGlothlin

8

1 reference

Europe PubMed Central

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9 February 2020

Esteban González Burchard

9

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9 February 2020

J Eduardo Rame

10

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9 February 2020

publication date

5 August 2011

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9 February 2020

American Journal of Medical Genetics

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Europe PubMed Central

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9 February 2020

155A

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9 February 2020

9

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9 February 2020

2229-2235

1 reference

Europe PubMed Central

PMC publication ID

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9 February 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical profile and outcome of idiopathic restrictive cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiology of Hypertrophic Cardiomyopathy–Related Death

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sarcomeric genotyping in hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is there a common genetic basis for all familial cardiomyopathies?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence, Clinical Significance, and Genetic Basis of Hypertrophic Cardiomyopathy With Restrictive Phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revisiting definition and classification of cardiomyopathies in the era of molecular medicine

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restrictive cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetics of dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21823217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.34097

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21823217%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21823217%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21823217%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

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