Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus (Q34263606)

1 August 2017

1 reference

title

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus (English)

1 reference

1 August 2017

C J Vaughan

1

1 reference

1 August 2017

C T Basson

series ordinal

2

1 reference

1 August 2017

publication date

1 January 2000

1 reference

American Journal of Medical Genetics Part A

1 August 2017

published in

1 reference

1 August 2017

volume

97

1 reference

1 August 2017

issue

4

1 reference

1 August 2017

page(s)

304-309

1 reference

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

The mutation spectrum in Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Identification and localization of TBX5 transcription factor during human cardiac morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

The T genes in embryogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Familial heart disease with skeletal malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

21 January 2018

The Holt-Oram syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Down syndrome phenotypes: the consequences of chromosomal imbalance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Ventricular expression of tbx5 inhibits normal heart chamber development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Regulation of transcription factor AP-2 by the morphogen retinoic acid and by second messengers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Holt-Oram syndrome: a clinical genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

21 January 2018

The T-box gene family

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

High prevalence of muscular ventricular septal defect in neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Linear atrial ablation with a diode laser and fiberoptic catheter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Holt-Oram syndrome in China: a collective review of 18 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Dilated Cardiomyopathy and the Desmin Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Congenital heart disease: incidence and inheritance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Malformation syndrome of duplication 12q24.1→qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Update on counseling the family with a first-degree relative with a congenital heart defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Holt Oram syndrome mistaken for thalidomide embryopathy--embryological considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

High prevalence of muscular ventricular septal defect in preterm neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Cross-sectional echocardiographic imaging of supracardiac total anomalous pulmonary venous drainage to a vertical vein in a patient with Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

Upper-limb cardiovascular syndrome. A family study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200024%2997%3A4%3C304%3A%3AAID-AJMG1281%3E3.0.CO%3B2-%23

10.1002/1096-8628(200024)97:4<304::AID-AJMG1281>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference