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MeSH Review

Heart Defects, Congenital

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Analytical, diagnostic and therapeutic context of Heart Defects, Congenital


  1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M., Beck, G., Wright, A.F., Iannaccone, A., Elbedour, K., Riise, R., Baldi, A., Raas-Rothschild, A., Gorman, S.W., Duhl, D.M., Jacobson, S.G., Casavant, T., Stone, E.M., Sheffield, V.C. Nat. Genet. (2001) [Pubmed]
  2. Use of ATP-MgCl2 in the evaluation and treatment of children with pulmonary hypertension secondary to congenital heart defects. Brook, M.M., Fineman, J.R., Bolinger, A.M., Wong, A.F., Heymann, M.A., Soifer, S.J. Circulation (1994) [Pubmed]
  3. Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. Le Caignec, C., Lefevre, M., Schott, J.J., Chaventre, A., Gayet, M., Calais, C., Moisan, J.P. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Second natural history study of congenital heart defects. Quality of life of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. Gersony, W.M., Hayes, C.J., Driscoll, D.J., Keane, J.F., Kidd, L., O'Fallon, W.M., Pieroni, D.R., Wolfe, R.R., Weidman, W.H. Circulation (1993) [Pubmed]
  5. Intravenous arginine-vasopressin in children with vasodilatory shock after cardiac surgery. Rosenzweig, E.B., Starc, T.J., Chen, J.M., Cullinane, S., Timchak, D.M., Gersony, W.M., Landry, D.W., Galantowicz, M.E. Circulation (1999) [Pubmed]
  6. Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son. Giannotti, A., Digilio, M.C., Mingarelli, R., Marino, B., Dallapiccola, B. Am. J. Med. Genet. (1997) [Pubmed]
  7. Cognitive function and age at repair of transposition of the great arteries in children. Newburger, J.W., Silbert, A.R., Buckley, L.P., Fyler, D.C. N. Engl. J. Med. (1984) [Pubmed]
  8. Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. Kasahara, H., Lee, B., Schott, J.J., Benson, D.W., Seidman, J.G., Seidman, C.E., Izumo, S. J. Clin. Invest. (2000) [Pubmed]
  9. Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling. Uhlén, P., Burch, P.M., Zito, C.I., Estrada, M., Ehrlich, B.E., Bennett, A.M. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  10. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Ware, S.M., Peng, J., Zhu, L., Fernbach, S., Colicos, S., Casey, B., Towbin, J., Belmont, J.W. Am. J. Hum. Genet. (2004) [Pubmed]
  11. Prostaglandins and the ductus arteriosus. Olley, P.M., Coceani, F. Annu. Rev. Med. (1981) [Pubmed]
  12. Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage. Bailey, L.B., Berry, R.J. Am. J. Clin. Nutr. (2005) [Pubmed]
  13. Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Hobbs, C.A., Cleves, M.A., Melnyk, S., Zhao, W., James, S.J. Am. J. Clin. Nutr. (2005) [Pubmed]
  14. Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. Li, D., Pickell, L., Liu, Y., Wu, Q., Cohn, J.S., Rozen, R. Am. J. Clin. Nutr. (2005) [Pubmed]
  15. B-type natriuretic peptide in paediatric patients with congenital heart disease. Koch, A., Zink, S., Singer, H. Eur. Heart J. (2006) [Pubmed]
  16. Influence of intravenous sildenafil on cerebral oxygenation measured by near-infrared spectroscopy in infants after cardiac surgery. Nagdyman, N., Fleck, T., Bitterling, B., Ewert, P., Abdul-Khaliq, H., Stiller, B., Hübler, M., Lange, P.E., Berger, F., Schulze-Neick, I. Pediatr. Res. (2006) [Pubmed]
  17. Transient secondary hypothyroidism in children after cardiac surgery. Bettendorf, M., Schmidt, K.G., Tiefenbacher, U., Grulich-Henn, J., Heinrich, U.E., Schönberg, D.K. Pediatr. Res. (1997) [Pubmed]
  18. Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome). Davies, G.E., Howard, C.M., Farrer, M.J., Coleman, M.M., Bennett, L.B., Cullen, L.M., Wyse, R.K., Burn, J., Williamson, R., Kessling, A.M. Ann. Hum. Genet. (1995) [Pubmed]
  19. Morphologic features of the ductus arteriosus after prostaglandin E1 administration for ductus-dependent congenital heart defects. Park, I.S., Nihill, M.R., Titus, J.L. J. Am. Coll. Cardiol. (1983) [Pubmed]
  20. Endogenous norepinephrine stimulates both alpha 1- and beta-adrenoceptors in myocardium from children with congenital heart defects. Borthne, K., Hågå, P., Langslet, A., Lindberg, H., Skomedal, T., Osnes, J.B. J. Mol. Cell. Cardiol. (1995) [Pubmed]
  21. snf1lk encodes a protein kinase that may function in cell cycle regulation. Stephenson, A., Huang, G.Y., Huang, G.Y., Nguyen, N.T., Reuter, S., McBride, J.L., Ruiz, J.C. Genomics (2004) [Pubmed]
  22. Mid- to long-term results of the two-stage approach for type B interrupted aortic arch and ventricular septal defect. Mainwaring, R.D., Lamberti, J.J. Ann. Thorac. Surg. (1997) [Pubmed]
  23. High-resolution physical map and identification of potentially regulatory sequences of the human SH3BGR located in the Down syndrome chromosomal region. Vidal-Taboada, J.M., Bergoñon, S., Scartezzini, P., Egeo, A., Nizetic, D., Oliva, R. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  24. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Sheffield, V.C. Pediatr. Res. (2004) [Pubmed]
  25. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. Venturin, M., Bentivegna, A., Moroni, R., Larizza, L., Riva, P. Ann. Hum. Genet. (2005) [Pubmed]
  26. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Garg, V., Kathiriya, I.S., Barnes, R., Schluterman, M.K., King, I.N., Butler, C.A., Rothrock, C.R., Eapen, R.S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J.C., Srivastava, D. Nature (2003) [Pubmed]
  27. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Sperling, S., Grimm, C.H., Dunkel, I., Mebus, S., Sperling, H.P., Ebner, A., Galli, R., Lehrach, H., Fusch, C., Berger, F., Hammer, S. Hum. Mutat. (2005) [Pubmed]
  28. Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. Donovan, J., Kordylewska, A., Jan, Y.N., Utset, M.F. Curr. Biol. (2002) [Pubmed]
  29. Second natural history study of congenital heart defects. Ventricular septal defect: echocardiography. Pieroni, D.R., Nishimura, R.A., Bierman, F.Z., Colan, S.D., Kaufman, S., Sanders, S.P., Seward, J.B., Tajik, A.J., Wiggins, J.W., Zahka, K.G. Circulation (1993) [Pubmed]
  30. Double-blind comparison of oral transmucosal fentanyl citrate with oral meperidine, diazepam, and atropine as preanesthetic medication in children with congenital heart disease. Goldstein-Dresner, M.C., Davis, P.J., Kretchman, E., Siewers, R.D., Certo, N., Cook, D.R. Anesthesiology (1991) [Pubmed]
  31. Donor-recipient size matching in pediatric heart transplantation: a word of caution about small grafts. Tamisier, D., Vouhé, P., Le Bidois, J., Mauriat, P., Khoury, W., Leca, F. J. Heart Lung Transplant. (1996) [Pubmed]
  32. Time course of endothelin-1 and nitrate anion levels after cardiopulmonary bypass in congenital heart defects. Hiramatsu, T., Imai, Y., Takanashi, Y., Hoshino, S., Yashima, M., Tanaka, S.A., Chang, D., Nakazawa, M. Ann. Thorac. Surg. (1997) [Pubmed]
  33. Adenosine induced transient cardiac standstill in catheter interventional procedures for congenital heart disease. De Giovanni, J.V., Edgar, R.A., Cranston, A. Heart (1998) [Pubmed]
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