Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies. (Q37071187)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

review article

3 references

19 November 2020

18 October 2022

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

18 January 2020

main subject

dilated cardiomyopathy

9 references

22 March 2019

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30 June 2019

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19 November 2020

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30 June 2019

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14 September 2019

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19 November 2020

preventive health services

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22 July 2019

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14 September 2019

biomedical investigative technique

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19 September 2019

DNA mutational analysis

1 reference

19 November 2020

1 reference

19 November 2020

Maria Grazia Andreassi

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

3

Simona Vittorini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

2

Nicoletta Botto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Maria Giovanna Colombo

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Umberto Paradossi

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

1 reference

19 December 2008

11 references

22 March 2019

22 April 2019

19 June 2019

30 June 2019

17 June 2019

22 July 2019

14 September 2019

19 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

19 November 2020

18 October 2022

Cardiovascular Ultrasound

11 references

22 March 2019

22 April 2019

19 June 2019

30 June 2019

17 June 2019

22 July 2019

14 September 2019

19 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

19 November 2020

18 October 2022

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

62

1 reference

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Creative Commons Attribution 2.0 Generic

18 January 2020

copyright license

10 references

22 March 2019

22 April 2019

19 June 2019

30 June 2019

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22 July 2019

14 September 2019

19 September 2019

19 November 2020

on focus list of Wikimedia project

18 October 2022

copyright status

copyrighted

0 references

ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/1476-7120-6-62

0 references

cites work

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

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Genetic testing in cardiovascular disease

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"Laminopathies": a wide spectrum of human diseases

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Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?

29 September 2017

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Human laminopathies: nuclei gone genetically awry

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Genetic diagnosis and testing in clinical practice

29 September 2017

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A contemporary approach to hypertrophic cardiomyopathy.

29 September 2017

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29 September 2017

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Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

29 September 2017

1 reference

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Family history: the three-generation pedigree.

29 September 2017

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Genetics and cardiomyopathy: where are we now?

29 September 2017

1 reference

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Clinical and genetic issues in familial dilated cardiomyopathy

29 September 2017

1 reference

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Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

29 September 2017

1 reference

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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

29 September 2017

1 reference

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Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing

29 September 2017

1 reference

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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

29 September 2017

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

29 September 2017

1 reference

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A vision for the future of genomics research

29 September 2017

1 reference

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The Genetic Basis for Cardiomyopathy

29 September 2017

1 reference

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

29 September 2017

1 reference

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

29 September 2017

1 reference

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Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy

29 September 2017

1 reference

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Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy

29 September 2017

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4 September 2018

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Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

4 September 2018

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4 September 2018

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High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

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Crossref

https://api.crossref.org/works/10.1186%2F1476-7120-6-62

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

21 January 2018

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Epidemiology of Hypertrophic Cardiomyopathy–Related Death

21 January 2018

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Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE

21 January 2018

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12 December 2020

Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans

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12 December 2020

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

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12 December 2020

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

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12 December 2020

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

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12 December 2020

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

1 reference

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1476-7120-6-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19099557%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference