[HTML][HTML] Transposition of great arteries: new insights into the pathogenesis

M Unolt, C Putotto, LM Silvestri, D Marino… - Frontiers in …, 2013 - frontiersin.org
Transposition of great arteries (TGA) is one of the most common and severe congenital heart
diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in …

Genetic basis of human congenital heart disease

SN Nees, WK Chung - Cold Spring Harbor perspectives …, 2020 - cshperspectives.cshlp.org
Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …

[HTML][HTML] Genetic testing in congenital heart disease: A clinical approach

MA Chaix, G Andelfinger, P Khairy - World journal of cardiology, 2016 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a
polygenic model defined by the interaction of multiple genes and environmental factors was …

Limitations of using first‐trimester nuchal translucency measurement in routine screening for major congenital heart defects

E Mavrides, F Cobian‐Sanchez, A Tekay… - … in Obstetrics and …, 2001 - Wiley Online Library
Objective To evaluate the effectiveness of nuchal translucency (NT) measurement in
screening for major congenital heart disease (CHD) in chromosomally normal fetuses …

[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 …

A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations

Z Hu, Y Shi, X Mo, J Xu, B Zhao, Y Lin, S Yang, Z Xu… - Nature …, 2013 - nature.com
Congenital heart malformation (CHM) is the most common form of congenital human birth
anomaly and is the leading cause of infant mortality. Although some causative genes have …

[PDF][PDF] Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype

AME Brassington, SS Sung, RM Toydemir, T Le… - The American Journal of …, 2003 - cell.com
Mutations in TBX5, a T-box–containing transcription factor, cause cardiac and limb
malformations in individuals with Holt-Oram syndrome (HOS). Mutations that result in …

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

HJ Cordell, A Töpf, C Mamasoula… - Human molecular …, 2013 - academic.oup.com
We conducted a genome-wide association study to search for risk alleles associated with
Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 …

Pregnancy, fertility, and recurrence risk in corrected tetralogy of Fallot

JM Meijer, PG Pieper, W Drenthen, AA Voors… - Heart, 2005 - heart.bmj.com
Objective: To determine in women with surgically corrected tetralogy of Fallot the risk of
pregnancy for mother and fetus, whether fertility was compromised, and the recurrence risk …

[PDF][PDF] Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23. 1

K Devriendt, G Matthijs, R Van Dael, M Gewillig… - The American Journal of …, 1999 - cell.com
Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart
malformations. Other major manifestations include microcephaly, intrauterine growth …