References
1. Gao M, He X, Zheng J. Advances in molecular genetics for pulmonary
atresia. Cardiol Young. 2017;27(2):207-216.
2. Elias P, Poh CL, du Plessis K, et al. Long-term outcomes of
single-ventricle palliation for pulmonary atresia with intact
ventricular septum: Fontan survivors remain at risk of late myocardial
ischaemia and death. Eur J Cardiothorac Surg.2018;53(6):1230-1236.
3. Yang SH, Luo PH, Tian XX, et al. Prenatal diagnosis of pulmonary
atresia with ventricular septal defect. J Med Ultrason (2001).2018;45(2):341-344.
4. Gómez O, Martinez JM. Pulmonary Stenosis and Atresia.
2018:373-377.e371.
5. Xie L, Chen JL, Zhang WZ, et al. Rare de novo copy number variants in
patients with congenital pulmonary atresia. PLoS One.2014;9(5):e96471.
6. Mercer-Rosa L, Elci OU, Pinto NM, Tanel RE, Goldmuntz E. 22q11.2
Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with
Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.Pediatr Cardiol. 2018.
7. Guida V, Ferese R, Rocchetti M, et al. A variant in the
carboxyl-terminus of connexin 40 alters GAP junctions and increases risk
for tetralogy of Fallot. Eur J Hum Genet. 2013;21(1):69-75.
8. Sun X, Meng Y, You T, et al. Association of growth/differentiation
factor 1 gene polymorphisms with the risk of congenital heart disease in
the Chinese Han population. Molecular Biology Reports.2013;40(2):1291-1299.
9. Capelli C, Sauvage E, Giusti G, et al. Patient-specific simulations
for planning treatment in congenital heart disease. Interface
Focus. 2018;8(1):20170021.
10. He X, Gao B, Shi G, et al. Surgical strategy and outcomes for the
delayed diagnosis of pulmonary atresia with intact ventricular septum.J Cardiol. 2018.
11. Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of
chromosome 1q21.1 rearrangements and GJA5 duplications in 2436
congenital heart disease patients and 6760 controls. Hum Mol
Genet. 2012;21(7):1513-1520.
12. Kozyraki R. Cubilin, a multifunctional epithelial receptor: an
overview. Journal of Molecular Medicine-Jmm. 2001;79(4):161-167.
13. Tsaroucha AK, Chatzaki E, Lambropoulou M, et al. Megalin and cubilin
in the human gallbladder epithelium. Clinical and Experimental
Medicine. 2008;8(3):165-170.
14. Zhang DM, Mehler MF, Song QB, Kessler JA. Development of bone
morphogenetic protein receptors in the nervous system and possible roles
in regulating trkC expression. J Neurosci. 1998;18(9):3314-3326.
15. Kim M-J, Park SY, Chang HR, et al. Clinical significance linked to
functional defects in bone morphogenetic protein type 2 receptor, BMPR2.BMB Reports. 2017;50(6):308-317.
16. Orriols M, Gomez-Puerto MC, Ten Dijke P. BMP type II receptor as a
therapeutic target in pulmonary arterial hypertension. Cellular
and molecular life sciences : CMLS. 2017;74(16):2979-2995.
17. Garcia-Rivas G, Jerjes-Sanchez C, Rodriguez D, Garcia-Pelaez J,
Trevino V. A systematic review of genetic mutations in pulmonary
arterial hypertension. BMC Med Genet. 2017;18(1):82.
18. Hardwick JC, Kodach LL, Offerhaus GJ, van den Brink GR. Bone
morphogenetic protein signalling in colorectal cancer. Nature
reviews Cancer. 2008;8(10):806-812.
19. Kim HH, Hyung WJ, Cho GS, et al. Morbidity and mortality of
laparoscopic gastrectomy versus open gastrectomy for gastric cancer: an
interim report–a phase III multicenter, prospective, randomized Trial
(KLASS Trial). Annals of surgery. 2010;251(3):417-420.
20. Finkenzeller G, Hager S, Stark GB. Effects of bone morphogenetic
protein 2 on human umbilical vein endothelial cells. Microvascular
Research. 2012;84(1):81-85.
21. Todros T, Paladini D, Chiappa E, et al. Pulmonary stenosis and
atresia with intact ventricular septum during prenatal life.Ultrasound in Obstetrics & Gynecology. 2003;21(3):228-233.
22. Maeno YV, Boutin C, Hornberger LK, et al. Prenatal diagnosis of
right ventricular outflow tract obstruction with intact ventricular
septum, and detection of ventriculocoronary connections. Heart.1999;81(6):661-668.
23. Zhao L, Zhou Z, Wang S, et al. A recurrent mutation in bone
morphogenetic proteins-2-inducible kinase gene is associated with
developmental dysplasia of the hip. Exp Ther Med.2017;13(5):1773-1778.
24. Song K, Backs J, McAnally J, et al. The transcriptional coactivator
CAMTA2 stimulates cardiac growth by opposing class II histone
deacetylases. Cell. 2006;125(3):453-466.
25. Tomita-Mitchell A, Mahnke DK, Struble CA, et al. Human gene copy
number spectra analysis in congenital heart malformations.Physiological Genomics. 2012;44(9):518-541.
26. Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai
EH. Congenital heart defects in oculodentodigital dysplasia: Report of
two cases. American Journal of Medical Genetics Part A.2013;161(12):3150-3154.
27. Rosenzweig BL, Imamura T, Okadome T, et al. Cloning and
characterization of a human type II receptor for bone morphogenetic
proteins. Proceedings of the National Academy of Sciences.1995;92:7632-7636.
28. Girerd B, Lau E, Montani D, Humbert M. Genetics of pulmonary
hypertension in the clinic. Current opinion in pulmonary
medicine. 2017;23(5):386-391.
29. Lu H, Daugherty A. Atherosclerosis. Arteriosclerosis,
thrombosis, and vascular biology. 2015;35(3):485-491.
30. Tsang HTH, Edwards TL, Wang X, et al. The hereditary spastic
paraplegia proteins NIPA1, spastin and spartin are inhibitors of
mammalian BMP signalling. Human Molecular Genetics.2009;18(20):3805-3821.
31. Schulz TJ, Tseng YH. Emerging role of bone morphogenetic proteins in
adipogenesis and energy metabolism. Cytokine & Growth Factor
Reviews. 2009;20(5-6):523-531.
32. Contribution of rare inherited and de novo variants in 2,871
congenital heart disease probands.