(Q36195391)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

main subject

dilated cardiomyopathy

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Honghuang Lin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

11

Patrick T Ellinor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

8

Nathan R Tucker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

7

Marisa A Shea

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1

Alan Hanley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

4

Michael A McLellan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

5

Sebastian Clauss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Katie A Walsh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Amaya Hagen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Gerard J Fahy

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

publication date

17 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s12881-016-0347-6

27 March 2020

exact match

0 references

cites work

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

2015 update on the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

The maternal-age-associated risk of congenital heart disease is modifiable

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

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).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

A map of human genome variation from population-scale sequencing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Slow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

The Sequence Alignment/Map format and SAMtools

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Finishing the euchromatic sequence of the human genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114776

Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27855642

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27855642

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-016-0347-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855642%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference