Return of genetic results in the familial dilated cardiomyopathy research project (Q37274213)

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11 February 2020

title

Return of genetic results in the familial dilated cardiomyopathy research project (English)

1 reference

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11 February 2020

main subject

dilated cardiomyopathy

1 reference

familial dilated cardiomyopathy

inferred from title

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10

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11 February 2020

author name string

Jill D Siegfried

1

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11 February 2020

Ana Morales

2

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11 February 2020

Jessica D Kushner

3

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11 February 2020

Emily Burkett

4

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11 February 2020

Jason Cowan

5

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11 February 2020

Ana Clara Mauro

6

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11 February 2020

Gordon S Huggins

7

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11 February 2020

Duanxiang Li

8

1 reference

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11 February 2020

Nadine Norton

9

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11 February 2020

publication date

11 August 2012

1 reference

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Journal of Genetic Counseling

11 February 2020

published in

1 reference

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11 February 2020

volume

22

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11 February 2020

issue

2

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11 February 2020

page(s)

164-174

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Researchers' opinions towards the communication of results of biobank research: a survey study

11 February 2020

cites work

1 reference

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HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

6 September 2017

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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

6 September 2017

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Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

6 September 2017

1 reference

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Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper

6 September 2017

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Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

6 September 2017

1 reference

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Research ethics. Research practice and participant preferences: the growing gulf.

6 September 2017

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SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del

6 September 2017

1 reference

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Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

6 September 2017

1 reference

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Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation

6 September 2017

1 reference

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Use and interpretation of genetic tests in cardiovascular genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals

6 September 2017

1 reference

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Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

6 September 2017

1 reference

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Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Public expectations for return of results from large-cohort genetic research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Family history: an essential tool for cardiovascular genetic medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Clinical and genetic issues in familial dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3815604

What is a meaningful result? Disclosing the results of genomic research in autism to research participants

6 September 2017

1 reference

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Defining the pathogenicity of DNA sequence variation

26 June 2018

1 reference

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Subjects matter: a survey of public opinions about a large genetic cohort study.

26 June 2018

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Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

3 September 2018

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Reporting genetic results in research studies: summary and recommendations of an NHLBI working group.

3 September 2018

1 reference

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Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice

3 September 2018

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12 December 2020

Secrets of the human genome disclosed

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12 December 2020

Issues in genetic testing for ultra-rare diseases: background and introduction

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12 December 2020

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

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12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

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12 December 2020

Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy

1 reference

12 December 2020

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

1 reference

12 December 2020

10.1007/S10897-012-9532-8

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22886719%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

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11 February 2020

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