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Gene Review

AVSD1  -  atrioventricular septal defect 1

Homo sapiens

Synonyms: AVCD, AVCD1, AVSD, VSD1
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Disease relevance of AVSD1


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Chemical compound and disease context of AVSD1


Biological context of AVSD1


Anatomical context of AVSD1


Associations of AVSD1 with chemical compounds


Other interactions of AVSD1


Analytical, diagnostic and therapeutic context of AVSD1


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  2. Outcome after maternal varicella infection in the first 20 weeks of pregnancy. Pastuszak, A.L., Levy, M., Schick, B., Zuber, C., Feldkamp, M., Gladstone, J., Bar-Levy, F., Jackson, E., Donnenfeld, A., Meschino, W. N. Engl. J. Med. (1994) [Pubmed]
  3. 25-year mortality after surgical repair of congenital heart defect in childhood. A population-based cohort study. Morris, C.D., Menashe, V.D. JAMA (1991) [Pubmed]
  4. Early repair of mechanical complications after acute myocardial infarction. Nishimura, R.A., Schaff, H.V., Gersh, B.J., Holmes, D.R., Tajik, A.J. JAMA (1986) [Pubmed]
  5. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. Teebi, A.S., Al-Awadi, S.A., Marafie, M.J., Bushnaq, R.A., Satyanath, S. J. Med. Genet. (1988) [Pubmed]
  6. Simplified echocardiographic criteria for decision making in perimembranous ventricular septal defect in childhood. Puchalski, M.D., Brook, M.M., Silverman, N.H. Am. J. Cardiol. (2002) [Pubmed]
  7. Skeletal muscle energy substrates, metabolic products and enzyme activity in infants with symptomatic ventricular septal defect. Lundell, K.H., Eriksson, B.O., Sabel, K.G., Mellgren, G. Acta Paediatr. (1996) [Pubmed]
  8. Patient with partial trisomy 9q and learning disability but no pyloric stenosis. Hengstschläger, M., Prusa, A.R., Repa, C., Drahonsky, R., Deutinger, J., Pollak, A., Bernaschek, G. Developmental medicine and child neurology. (2004) [Pubmed]
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  10. 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]
  11. Effects of digoxin in infants with congested circulatory state due to a ventricular septal defect. Berman, W., Yabek, S.M., Dillon, T., Niland, C., Corlew, S., Christensen, D. N. Engl. J. Med. (1983) [Pubmed]
  12. Physiologic effects of increasing hemoglobin concentration in left-to-right shunting in infants with ventricular septal defects. Lister, G., Hellenbrand, W.E., Kleinman, C.S., Talner, N.S. N. Engl. J. Med. (1982) [Pubmed]
  13. Formalin infiltration of the ductus arteriosus. A method for palliation of infants with selected congenital cardiac lesions. Rudolph, A.M., Heymann, M.A., Fishman, N., Lakier, J.B. N. Engl. J. Med. (1975) [Pubmed]
  14. An essential role of Bmp4 in the atrioventricular septation of the mouse heart. Jiao, K., Kulessa, H., Tompkins, K., Zhou, Y., Batts, L., Baldwin, H.S., Hogan, B.L. Genes Dev. (2003) [Pubmed]
  15. Hemodynamic effects of nitroprusside in infants with a large ventricular septal defect. Beekman, R.H., Rocchini, A.P., Rosenthal, A. Circulation (1981) [Pubmed]
  16. Dose-dependent fetal complications of warfarin in pregnant women with mechanical heart valves. Vitale, N., De Feo, M., De Santo, L.S., Pollice, A., Tedesco, N., Cotrufo, M. J. Am. Coll. Cardiol. (1999) [Pubmed]
  17. Tetralogy of Fallot repair results in activation of the renin-angiotensin-aldosterone system. Mainwaring, R.D., Lamberti, J.J., Moore, J.W., Billman, G.F., Carter, T.L., Nelson, J.C. Eur. Heart J. (1996) [Pubmed]
  18. Common arterial trunk and pulmonary atresia: close developmental cousins? results from a teratogen induced animal model. Jackson, M., Connell, M.G., Smith, A., Drury, J., Anderson, R.H. Cardiovasc. Res. (1995) [Pubmed]
  19. The role of isoproterenol in the preoperative evaluation of high-pressure, high-resistance ventricular septal defect. Lupi-Herrera, E., Sandoval, J., Seoane, M., Bialostozky, D., Attie, F. Chest (1982) [Pubmed]
  20. Mechanism of decreased forward stroke volume in children and swine with ventricular septal defect and failure to thrive. Corin, W.J., Swindle, M.M., Spann, J.F., Nakano, K., Frankis, M., Biederman, R.W., Smith, A., Taylor, A., Carabello, B.A. J. Clin. Invest. (1988) [Pubmed]
  21. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. Benson, D.W., Silberbach, G.M., Kavanaugh-McHugh, A., Cottrill, C., Zhang, Y., Riggs, S., Smalls, O., Johnson, M.C., Watson, M.S., Seidman, J.G., Seidman, C.E., Plowden, J., Kugler, J.D. J. Clin. Invest. (1999) [Pubmed]
  22. First-trimester transabdominal fetal echocardiography. Carvalho, J.S., Moscoso, G., Ville, Y. Lancet (1998) [Pubmed]
  23. Letter: Seasonal variation in incidence of ventricular septal defect. Cook, D., Rose, V. Lancet (1975) [Pubmed]
  24. Cardiovascular surgery in Jehovah's Witnesses. Report of 542 operations without blood transfusion. Ott, D.A., Cooley, D.A. JAMA (1977) [Pubmed]
  25. Mortality rates after surgery for congenital heart defects in children and surgeons' performance. Stark, J., Gallivan, S., Lovegrove, J., Hamilton, J.R., Monro, J.L., Pollock, J.C., Watterson, K.G. Lancet (2000) [Pubmed]
  26. The spectrum of cardiac defects in the Ehlers-Danlos syndrome, types I and III. Leier, C.V., Call, T.D., Fulkerson, P.K., Wooley, C.F. Ann. Intern. Med. (1980) [Pubmed]
  27. Electrophysiological delineation of the specialized A-V conduction system in patients with corrected transposition of the great vessels and ventricular septal defect. Waldo, A.L., Pacifico, A.D., Bargeron, L.M., James, T.N., Kirklin, J.W. Circulation (1975) [Pubmed]
  28. Results of the arterial switch operation for transposition of the great arteries with ventricular septal defect. Surgical considerations and midterm follow-up data. Di Donato, R.M., Wernovsky, G., Walsh, E.P., Colan, S.D., Lang, P., Wessel, D.L., Jonas, R.A., Mayer, J.E., Castañeda, A.R. Circulation (1989) [Pubmed]
  29. Hemodynamic effects of hydralazine in infants with a large ventricular septal defect. Beekman, R.H., Rocchini, A.P., Rosenthal, A. Circulation (1982) [Pubmed]
  30. Cardiac complications relating to pregnancy and recurrence of disease in the offspring of women with atrioventricular septal defects. Drenthen, W., Pieper, P.G., van der Tuuk, K., Roos-Hesselink, J.W., Voors, A.A., Mostert, B., Mulder, B.J., Moons, P., Ebels, T., van Veldhuisen, D.J. Eur. Heart J. (2005) [Pubmed]
  31. Subpulmonary and subaortic ridges in doubly committed subarterial ventricular septal defect: an echocardiographic study. Ozkutlu, S., Saraçlar, M., Alehan, D., Yurdakul, Y., Firat, P., Tokel, K. Eur. Heart J. (1996) [Pubmed]
  32. Hemodynamic changes in HH stage 34 chick embryos after treatment with all-trans-retinoic acid. Broekhuizen, M.L., Bouman, H.G., Mast, F., Mulder, P.G., Gittenberger-De Groot, A.C., Wladimiroff, J.W. Pediatr. Res. (1995) [Pubmed]
  33. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Schwabe, G.C., Tinschert, S., Buschow, C., Meinecke, P., Wolff, G., Gillessen-Kaesbach, G., Oldridge, M., Wilkie, A.O., Kömec, R., Mundlos, S. Am. J. Hum. Genet. (2000) [Pubmed]
  34. Down syndrome congenital heart disease: a narrowed region and a candidate gene. Barlow, G.M., Chen, X.N., Shi, Z.Y., Lyons, G.E., Kurnit, D.M., Celle, L., Spinner, N.B., Zackai, E., Pettenati, M.J., Van Riper, A.J., Vekemans, M.J., Mjaatvedt, C.H., Korenberg, J.R. Genet. Med. (2001) [Pubmed]
  35. The first pediatric case of Staphylococcus aureus with heterogenous resistant to vancomycin endocarditis in Thailand. Phongsamart, W., Srifeungfung, S., Tiensasitorn, C., Vanprapar, N., Chearskul, S., Chokephaibulkit, K. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (2005) [Pubmed]
  36. Thirty-year incidence of infective endocarditis after surgery for congenital heart defect. Morris, C.D., Reller, M.D., Menashe, V.D. JAMA (1998) [Pubmed]
  37. Cardiorespiratory responses to exercise of patients with aortic stenosis, pulmonary stenosis, and ventricular septal defect. Driscoll, D.J., Wolfe, R.R., Gersony, W.M., Hayes, C.J., Keane, J.F., Kidd, L., O'Fallon, W.M., Pieroni, D.R., Weidman, W.H. Circulation (1993) [Pubmed]
  38. Subaortic fibrous ridge and ventricular septal defect: role of septal malalignment. Zielinsky, P., Rossi, M., Haertel, J.C., Vitola, D., Lucchese, F.A., Rodrigues, R. Circulation (1987) [Pubmed]
  39. Doppler color flow mapping assessment of residual shunt after closure of large ventricular septal defects. Rychik, J., Norwood, W.I., Chin, A.J. Circulation (1991) [Pubmed]
  40. Diagnosis of ventricular septal defect by pulsed Doppler echocardiography. Sensitivity, specificity and limitations. Stevenson, J.G., Kawabori, I., Dooley, T., Guntheroth, W.G. Circulation (1978) [Pubmed]
  41. Aneurysm of the membraous septum in ventricular septal defect. Nugent, E.W., Freedom, R.M., Rowe, R.D., Wagner, H.R., Rees, J.K. Circulation (1977) [Pubmed]
  42. Pulsed Doppler echocardiographic evaluation of ventricular septal defect patches. Stevenson, J.G., Kawabori, I., Stamm, S.J., Bailey, W.W., Hall, D.G., Mansfield, P.B., Rittenhouse, E.A. Circulation (1984) [Pubmed]
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