Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy (Q36032075)

11 August 2017

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy (English)

1 reference

11 August 2017

0 references

dilated cardiomyopathy

1 reference

1 reference

Oyediran Akinrinade

1

0 references

author name string

Laura Ollila

2

1 reference

11 August 2017

Sanna Vattulainen

3

1 reference

11 August 2017

Jonna Tallila

4

1 reference

11 August 2017

Massimiliano Gentile

5

1 reference

11 August 2017

Pertteli Salmenperä

6

1 reference

11 August 2017

Hannele Koillinen

7

1 reference

11 August 2017

Maija Kaartinen

8

1 reference

11 August 2017

Markku S Nieminen

9

1 reference

11 August 2017

Samuel Myllykangas

10

1 reference

11 August 2017

Tero-Pekka Alastalo

11

1 reference

11 August 2017

Juha W Koskenvuo

12

1 reference

11 August 2017

Tiina Heliö

13

1 reference

11 August 2017

17 June 2015

1 reference

11 August 2017

European Heart Journal

1 reference

11 August 2017

36

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11 August 2017

34

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11 August 2017

2327-2337

1 reference

Clinical exome performance for reporting secondary genetic findings

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Atlas of the clinical genetics of human dilated cardiomyopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Trimmomatic: a flexible trimmer for Illumina sequence data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Genetics and cardiovascular disease: a policy statement from the American Heart Association.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Truncations of titin causing dilated cardiomyopathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

A framework for variation discovery and genotyping using next-generation DNA sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

The genetics of dilated cardiomyopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

The genetic basis for cardiac remodeling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Long-term outcomes after cardiac transplantation: an experience based on different eras of immunosuppressive therapy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Echocardiographic measurements in normal subjects from infancy to old age.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561350

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

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26084686

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26084686

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/EURHEARTJ/EHV253

1 reference

11 August 2017

1 reference

11 August 2017

1 reference