Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction (Q78618188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

left ventricular noncompaction

15 December 2019

main subject

1 reference

14

Jeffrey A Towbin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

author name string

Rui Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Tohru Tsuji

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Fukiko Ichida

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Karla R Bowles

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Xianyi Yu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Sayaka Watanabe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Keiichi Hirono

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Shinichi Tsubata

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Yuji Hamamichi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Jun Ohta

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Yasuharu Imai

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Neil E Bowles

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Toshio Miyawaki

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Noncompaction study collaborators

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

publication date

1 December 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

15 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

page(s)

319-325

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

The human embryonic heart in the seventh week

15 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Pulmonary atresia with intact ventricular septum. Report of two cases studied by selective angiocardiography and right heart catheterization

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Anomalous ventricular myocardial patterns in a child with complex congenital heart disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Mutation characterization and genotype-phenotype correlation in Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Barth syndrome: clinical observations and genetic linkage studies.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Possible X linked congenital mitochondrial cardiomyopathy in three families

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Isolated noncompaction of the myocardium in adults

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900195-6

7 January 2021

10.1016/S1096-7192(02)00195-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12468278%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference