Genetic factors in non-syndromic congenital heart malformations.

MW Wessels, PJ Willems - Clinical genetics, 2010 - search.ebscohost.com
Abstract Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart
malformations. The genetic defect in most patients with non-syndromic congenital heart …

NKX2–5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)

SM Reamon‐Buettner, J Borlak - Human mutation, 2010 - Wiley Online Library
Congenital heart disease (CHD) is among the most prevalent and fatal of all birth defects.
Deciphering its causes, however, is complicated, as many patients affected by CHD have no …

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

MG Posch, M Gramlich, M Sunde, KR Schmitt… - Journal of medical …, 2010 - jmg.bmj.com
Background Ostium secundum atrial septal defects (ASDII) account for approximately 10%
of all congenital heart defects (CHD), and mutations in cardiac transcription factors …

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

X Lin, Z Huo, X Liu, Y Zhang, L Li, H Zhao… - Journal of human …, 2010 - nature.com
GATA6 is a member of the GATA family of transcription factors, and its expression and
functions overlap with those of GATA4 during heart development. Mutations in GATA4 have …

[PDF][PDF] Haploinsufficiency of TAB2 causes congenital heart defects in humans

B Thienpont, L Zhang, AV Postma, J Breckpot… - The American Journal of …, 2010 - cell.com
Congenital heart defects (CHDs) are the most common major developmental anomalies and
the most frequent cause for perinatal mortality, but their etiology remains often obscure. We …

Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease

KN Stevens, H Hakonarson, CE Kim, PA Doevendans… - PloS one, 2010 - journals.plos.org
Congenital heart disease (CHD) is the most common birth abnormality and the etiology is
unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that …

Recurrence of discordant congenital heart defects in families

N yen, G Poulsen, J Wohlfahrt, HA Boyd… - Circulation …, 2010 - Am Heart Assoc
Background—Variation within a single gene might produce different congenital heart defects
(CHDs) within a family, which could explain the previously reported familial aggregation of …

Molecular genetics of congenital atrial septal defects

MG Posch, A Perrot, F Berger, C Özcelik - Clinical research in cardiology, 2010 - Springer
Congenital heart defects (CHD) are the most common developmental errors in humans,
affecting 8 out of 1,000 newborns. Clinical diagnosis and treatment of CHD has dramatically …

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease

T Peng, L Wang, SF Zhou, X Li - Genetica, 2010 - Springer
A number of mutations in GATA4 and NKX2. 5 have been identified to be causative for a
subset of familial congenital heart defects (CHDs) and a small number of sporadic CHDs. In …

Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation

MG Posch, LH Boldt, M Polotzki, S Richter… - European journal of …, 2010 - Elsevier
Familial recurrence of atrial fibrillation (AF) is reported in up to 15% of patients with lone AF.
Recently, it was proposed that congenital defects in the morphogenesis of the pulmonary …