(Q50242626)

28 February 2018

title

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. (English)

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28 February 2018

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1

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28 February 2018

Montserrat Santori

object named as

Montserrat Santori

3

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María L Couce

object named as

María Luz Couce

8

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author name string

María José de Castro López

2

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28 February 2018

Alejandro Pérez Muñuzuri

4

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28 February 2018

Bernardo López Abel

5

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28 February 2018

Ana María Baña Souto

6

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28 February 2018

María Isabel Martínez Soto

7

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28 February 2018

American Journal of Clinical Pathology

language of work or name

English

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inferred from

publication date

22 April 2016

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28 February 2018

American Journal of Clinical Pathology

published in

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28 February 2018

volume

145

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28 February 2018

issue

4

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28 February 2018

page(s)

507-513

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28 February 2018

describes a project that uses

massive parallel sequencing

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based on heuristic

inferred from title

cites work

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

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Mutation characterization and genotype-phenotype correlation in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Cardiac and clinical phenotype in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Modifier genes convert "simple" Mendelian disorders to complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Advances in the understanding of Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

New clinical and molecular insights on Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Left ventricular noncompaction: a cardiomyopathy with distinct characteristics and risks

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

Clinicopathologic conference: Barth Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FAJCP%2FAQW025

21 January 2018

Identifiers

DOI

10.1093/AJCP/AQW025

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28 February 2018

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28 February 2018