(Q41659579)

English

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

scientific article published on 18 September 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle (English)

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

0 references

left ventricular noncompaction

1 reference

based on heuristic

inferred from title

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Diti Ronvelia

1

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Jaclyn Greenwood

2

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Julia Platt

3

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Simin Hakim

4

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Michael V Zaragoza

5

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

18 September 2012

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

107

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

428-432

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

The enzymatic function of tafazzin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Cardiac and clinical phenotype in Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

The human genome browser at UCSC

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Modifier genes in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Modifier genes convert "simple" Mendelian disorders to complex traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Mutation characterization and genotype-phenotype correlation in Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Isolated noncompaction of left ventricular myocardium. A study of eight cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

6 June 2018

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

18 August 2018

Barth syndrome: clinical observations and genetic linkage studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483384

2 December 2018

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.013

7 January 2021

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.013

7 January 2021

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.013

7 January 2021

1 reference

https://pubmed.ncbi.nlm.nih.gov/23031367

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.YMGME.2012.09.013

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

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