-
1
-
-
0000690417
-
Congenital heart disease
-
Rimoin DL, Connor JM, Pyeritz RE, editors. New York, NY: Churchill-Livingstone
-
Burn J, Goodship J. Congenital heart disease. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin's Principals and Practice of Medical Genetics. New York, NY: Churchill-Livingstone, 1996:767-828.
-
(1996)
Emery and Rimoin's Principals and Practice of Medical Genetics
, pp. 767-828
-
-
Burn, J.1
Goodship, J.2
-
2
-
-
0033430230
-
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
-
Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999;104:1567-73.
-
(1999)
J Clin Invest
, vol.104
, pp. 1567-1573
-
-
Benson, D.W.1
Silberbach, G.M.2
Kavanaugh-McHugh, A.3
-
3
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
Schott J-J, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108-11.
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.-J.1
Benson, D.W.2
Basson, C.T.3
-
4
-
-
0036306830
-
Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease
-
Ikeda Y, Hiroi Y, Hosoda T, et al. Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease. Circ J 2002;66:561-3.
-
(2002)
Circ J
, vol.66
, pp. 561-563
-
-
Ikeda, Y.1
Hiroi, Y.2
Hosoda, T.3
-
5
-
-
0035923555
-
NKX2.5 mutations in patients with tetralogy of Fallot
-
Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001;104:2565-8.
-
(2001)
Circulation
, vol.104
, pp. 2565-2568
-
-
Goldmuntz, E.1
Geiger, E.2
Benson, D.W.3
-
6
-
-
0034634279
-
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
-
Biben C, Weber R, Kesteven S, et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ Res 2000;87:888-95.
-
(2000)
Circ Res
, vol.87
, pp. 888-895
-
-
Biben, C.1
Weber, R.2
Kesteven, S.3
-
7
-
-
0033912859
-
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
-
Kasahara H, Lee B, Schott JJ, et al. Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest 2000;106:299-308.
-
(2000)
J Clin Invest
, vol.106
, pp. 299-308
-
-
Kasahara, H.1
Lee, B.2
Schott, J.J.3
-
8
-
-
0035828196
-
Identification of connexin43 (α1) gap junction mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)
-
Dasgupta C, Martinez A-M, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. Identification of connexin43 (α1) gap junction mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 2001;479:173-86.
-
(2001)
Mutat Res
, vol.479
, pp. 173-186
-
-
Dasgupta, C.1
Martinez, A.-M.2
Zuppan, C.W.3
Shah, M.M.4
Bailey, L.L.5
Fletcher, W.H.6
-
9
-
-
0034668078
-
The association between the diameter of a patent foramen ovale and the risk of embolic cerebrovascular events
-
Schuchlenz HW, Weihs W, Horner S, Quehenberger F. The association between the diameter of a patent foramen ovale and the risk of embolic cerebrovascular events. Am J Med 2000;109:456-62.
-
(2000)
Am J Med
, vol.109
, pp. 456-462
-
-
Schuchlenz, H.W.1
Weihs, W.2
Horner, S.3
Quehenberger, F.4
-
10
-
-
0001113834
-
Molecular genetics of congenital heart disease
-
Chien KR, editor. Philadelphia, PA: Saunders
-
Grossfeld PD, Rothman A, Gruber P, Chien KR. Molecular genetics of congenital heart disease. In: Chien KR, editor. Molecular Basis of Cardiovascular Disease: A Companion to Braunwald's Heart Disease. Philadelphia, PA: Saunders, 1999:135-65.
-
(1999)
Molecular Basis of Cardiovascular Disease: A Companion to Braunwald's Heart Disease
, pp. 135-165
-
-
Grossfeld, P.D.1
Rothman, A.2
Gruber, P.3
Chien, K.R.4
-
11
-
-
0032568480
-
Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects
-
Benson DW, Sharkey A, Fatkin D, et al. Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 1998;97:2043-8.
-
(1998)
Circulation
, vol.97
, pp. 2043-2048
-
-
Benson, D.W.1
Sharkey, A.2
Fatkin, D.3
-
12
-
-
0034947445
-
Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein
-
Kasahara H, Wakimoto H, Liu M, et al. Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. J Clin Invest 2001;108:189-201.
-
(2001)
J Clin Invest
, vol.108
, pp. 189-201
-
-
Kasahara, H.1
Wakimoto, H.2
Liu, M.3
-
13
-
-
0030926451
-
Homeodomain factor Nkx2-5 controls left-right asymmetric expression of bHLH eHand during routine heart development
-
Biben C, Harvey RP. Homeodomain factor Nkx2-5 controls left-right asymmetric expression of bHLH eHand during routine heart development. Genes Dev 1997;11:1357-69.
-
(1997)
Genes Dev
, vol.11
, pp. 1357-1369
-
-
Biben, C.1
Harvey, R.P.2
|