-
1
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
[see comments]
-
Schott JJ, Benson DW, Basson CT et al: Congenital heart disease caused by mutations in the transcription factor NKX2-5 [see comments]. Science 1998; 281: 108-111.
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
-
2
-
-
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: 2043-2048.
-
(1998)
Circulation
, vol.97
, pp. 2043-2048
-
-
Benson, D.W.1
Sharkey, A.2
Fatkin, D.3
-
3
-
-
0036631483
-
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene
-
Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M: Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat 2002; 20: 75-76.
-
(2002)
Hum Mutat
, vol.20
, pp. 75-76
-
-
Gutierrez-Roelens, I.1
Sluysmans, T.2
Gewillig, M.3
Devriendt, K.4
Vikkula, M.5
-
4
-
-
0036848609
-
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
-
Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC: Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 2002; 39: 807-811.
-
(2002)
J Med Genet
, vol.39
, pp. 807-811
-
-
Watanabe, Y.1
Benson, D.W.2
Yano, S.3
Akagi, T.4
Yoshino, M.5
Murray, J.C.6
-
5
-
-
0037975739
-
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome
-
Elliott DA, Kirk EP, Yeoh T et al: Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003; 41: 2072-2076.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 2072-2076
-
-
Elliott, D.A.1
Kirk, E.P.2
Yeoh, T.3
-
6
-
-
0242636701
-
NKX2.5 mutations in patients with congenital heart disease
-
McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E: NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003; 42: 1650-1655.
-
(2003)
J Am Coll Cardiol
, vol.42
, pp. 1650-1655
-
-
McElhinney, D.B.1
Geiger, E.2
Blinder, J.3
Benson, D.W.4
Goldmuntz, E.5
-
7
-
-
28444447608
-
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
-
Sarkozy A, Conti E, Neri C et al: Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 2005; 42: E16.
-
(2005)
J Med Genet
, vol.42
-
-
Sarkozy, A.1
Conti, E.2
Neri, C.3
-
8
-
-
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
-
9
-
-
0032975539
-
Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient
-
Hosoda T, Komuro I, Shiojima I et al: Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient. Jpn Circ J 1999; 63: 425-426.
-
(1999)
Jpn Circ J
, vol.63
, pp. 425-426
-
-
Hosoda, T.1
Komuro, I.2
Shiojima, I.3
-
10
-
-
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: 2565-2568.
-
(2001)
Circulation
, vol.104
, pp. 2565-2568
-
-
Goldmuntz, E.1
Geiger, E.2
Benson, D.W.3
-
11
-
-
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: 561-563.
-
(2002)
Circ J
, vol.66
, pp. 561-563
-
-
Ikeda, Y.1
Hiroi, Y.2
Hosoda, T.3
-
12
-
-
2442705544
-
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations
-
Reamon-Buettner SM, Hecker H, Spanel-Borowski K, Craatz S, Kuenzel E, Borlak J: Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am J Pathol 2004; 164: 2117-2125.
-
(2004)
Am J Pathol
, vol.164
, pp. 2117-2125
-
-
Reamon-Buettner, S.M.1
Hecker, H.2
Spanel-Borowski, K.3
Craatz, S.4
Kuenzel, E.5
Borlak, J.6
-
13
-
-
11144355678
-
Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system
-
Jay PY, Harris BS, Maguire CT et al: Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest 2004; 113: 1130-1137.
-
(2004)
J Clin Invest
, vol.113
, pp. 1130-1137
-
-
Jay, P.Y.1
Harris, B.S.2
Maguire, C.T.3
-
14
-
-
11144357335
-
Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
-
Pashmforoush M, Lu JT, Chen H et al: Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 2004; 117: 373-386.
-
(2004)
Cell
, vol.117
, pp. 373-386
-
-
Pashmforoush, M.1
Lu, J.T.2
Chen, H.3
-
15
-
-
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: 1567-1573.
-
(1999)
J Clin Invest
, vol.104
, pp. 1567-1573
-
-
Benson, D.W.1
Silberbach, G.M.2
Kavanaugh-McHugh, A.3
-
16
-
-
18544398784
-
Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: A new midline disorder
-
Megarbane A, Stephan E, Kassab R et al: Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: A new midline disorder. Am J Med Genet 1999; 83: 193-200.
-
(1999)
Am J Med Genet
, vol.83
, pp. 193-200
-
-
Megarbane, A.1
Stephan, E.2
Kassab, R.3
|