(Q35036043)

5 August 2017

title

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy (English)

1 reference

5 August 2017

Luisa Mestroni

11

0 references

Gianfranco Sinagra

object named as

Gianfranco Sinagra

2

0 references

Pamela R Fain

8

object named as

Pamela R Fain

1 reference

5 August 2017

Nzali Campbell

1

1 reference

5 August 2017

Kenneth L Jones

3

1 reference

5 August 2017

Dobromir Slavov

4

1 reference

5 August 2017

Katherine Gowan

5

1 reference

5 August 2017

Marco Merlo

6

1 reference

5 August 2017

Elisa Carniel

7

1 reference

5 August 2017

Pierluigi Aragona

9

1 reference

5 August 2017

Andrea Di Lenarda

10

1 reference

5 August 2017

Matthew R G Taylor

12

1 reference

5 August 2017

language of work or name

English

0 references

publication date

29 October 2013

1 reference

5 August 2017

1 reference

5 August 2017

volume

8

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5 August 2017

issue

10

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5 August 2017

page(s)

e78104

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Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

29 October 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

8 July 2018

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Genetic testing for dilated cardiomyopathy in clinical practice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

8 July 2018

1 reference

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8 July 2018

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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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

8 July 2018

1 reference

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

8 July 2018

1 reference

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

8 July 2018

1 reference

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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

8 July 2018

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

8 July 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

8 July 2018

Dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Fast and SNP-tolerant detection of complex variants and splicing in short reads

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Molecular pathogenic mechanisms of cardiomyopathies caused by mutations in cardiac troponin T.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Transport into and out of the nucleus

8 July 2018

1 reference

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Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Frequency and phenotypes of familial dilated cardiomyopathy

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Echocardiographic measurements in normal subjects from infancy to old age.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812167

Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Use of genetics in the clinical evaluation of cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0078104

1 reference

5 August 2017

0 references

1 reference

5 August 2017

1 reference