(Q37186036)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

main subject

dilated cardiomyopathy

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Giovanna Lattanzi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Andreas Perrot

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Laura Papa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Marta Columbaro

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Giuseppe Faggian

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Gianluigi Condorelli

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Peter Robinson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Roberta Roncarati

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Chiara Viviani Anselmi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Elisa di Pasquale

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Paola Portararo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Alberto Forni

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Yskert von Kodolitsch

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

language of work or name

1 reference

6 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

25 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

page(s)

1105-1111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

The mutations associated with dilated cardiomyopathy

25 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Truncations of titin causing 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=3778353

Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Disease gene identification strategies for exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

The nucleoskeleton as a genome-associated dynamic 'network of networks'.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Exome sequencing as a tool for Mendelian disease gene discovery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Guidelines for the diagnosis and management of 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=3778353

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Update 2011: 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=3778353

Conformation-regulated mechanosensory control via titin domains in cardiac muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

MutationTaster evaluates disease-causing potential of sequence alterations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular 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=3778353

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric 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=3778353

Sequencing technologies - the next generation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Exome sequencing identifies the cause of a mendelian disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Targeted capture and massively parallel sequencing of 12 human exomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Lamin A/C deficiency as a cause of 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=3778353

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary 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=3778353

Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Primer3Plus, an enhanced web interface to Primer3

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Genetics of 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=3778353

Nuclear titin interacts with A- and B-type lamins in vitro and in vivo

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Lamin A/C truncation in dilated cardiomyopathy with conduction 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=3778353

SIFT: Predicting amino acid changes that affect protein function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Titin mutations as the molecular basis for 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=3778353

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=3778353

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on 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=3778353

Titins: giant proteins in charge of muscle ultrastructure and elasticity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based 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=3778353

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778353

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

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.16

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.16

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.16

Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations

21 January 2018

1 reference

12 December 2020

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy

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

A novel titin mutation in adult-onset familial dilated cardiomyopathy

1 reference

12 December 2020

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

1 reference

12 December 2020

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

Identifiers

DOI

10.1038/EJHG.2013.16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

PubMed publication ID

23463027

1 reference