(Q59615706)

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Barth syndrome

scientific article published on 1 August 2013

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scholarly article

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7 references

22 March 2019

24 March 2019

22 April 2019

17 June 2019

22 December 2019

6 July 2020

22 December 2020

Barth syndrome (English)

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6 references

22 March 2019

24 March 2019

22 April 2019

17 June 2019

22 December 2019

6 July 2020

6 references

22 March 2019

24 March 2019

22 April 2019

17 June 2019

22 December 2019

6 July 2020

transcription factor

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22 December 2019

22 December 2020

John L Jefferies

1

object named as

John L Jefferies

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language of work or name

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publication date

August 2013

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1 August 2013

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22 March 2019

24 March 2019

22 April 2019

17 June 2019

22 December 2019

6 July 2020

22 December 2020

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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22 March 2019

24 March 2019

22 April 2019

17 June 2019

22 December 2019

6 July 2020

22 December 2020

163C

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3

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198-205

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copyright license

Creative Commons Attribution 2.5 Generic

7 references

Europe PubMed Central

22 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

17 June 2019

Europe PubMed Central

22 December 2019

Europe PubMed Central

6 July 2020

Europe PubMed Central

22 December 2020

on focus list of Wikimedia project

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Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondria as a therapeutic target in heart failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiolipin prevents rate-dependent uncoupling and provides osmotic stability in yeast mitochondria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Epidemiology of Childhood Cardiomyopathy in Australia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An X-linked recessive cardiomyopathy with abnormal mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Barth syndrome: clinical observations and genetic linkage studies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Barth syndrome may be due to an acyltransferase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation characterization and genotype-phenotype correlation in Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history of Barth syndrome: a national cohort study of 22 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Barth syndrome: TAZ gene mutations, mRNAs, and evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac and clinical phenotype in Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiolipin: setting the beat of apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for the management of heart failure: differences in guideline perspectives

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in sarcomere protein genes in left ventricular noncompaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New indications and controversies in arginine therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiolipin and electron transport chain abnormalities in mouse brain tumor mitochondria: lipidomic evidence supporting the Warburg theory of cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial defects lie at the basis of neutropenia in Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiolipin and mitochondrial carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Executive Summary: Heart Disease and Stroke Statistics—2010 Update

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Left ventricular noncompaction: a new form of heart failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Barth syndrome in a female patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanical circulatory support in children: bridge to transplant versus recovery

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prospective trial of a pediatric ventricular assist device.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haematological features in Barth syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The failing heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/23843353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.C.31372

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PubMed publication ID

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