-
1
-
-
78650347494
-
GATA4 mutations in 357 unrelated patients with congenital heart malformation
-
Butler T.L., et al. GATA4 mutations in 357 unrelated patients with congenital heart malformation. Genet. Test. Mol. Biomarkers 2010, 14:797-802.
-
(2010)
Genet. Test. Mol. Biomarkers
, vol.14
, pp. 797-802
-
-
Butler, T.L.1
-
2
-
-
77955984188
-
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect
-
Chen Y., et al. A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. J. Thorac. Cardiovasc. Surg. 2010, 140:684-687.
-
(2010)
J. Thorac. Cardiovasc. Surg.
, vol.140
, pp. 684-687
-
-
Chen, Y.1
-
3
-
-
77956454403
-
A novel mutation of GATA4 in a familial atrial septal defect
-
Chen Y., et al. A novel mutation of GATA4 in a familial atrial septal defect. Clin. Chim. Acta 2010, 411:1741-1745.
-
(2010)
Clin. Chim. Acta
, vol.411
, pp. 1741-1745
-
-
Chen, Y.1
-
4
-
-
84874230096
-
Genetics of congenital heart disease: the glass half empty
-
Fahed A.C., Gelb B.D., Seidman J.G., Seidman C.E. Genetics of congenital heart disease: the glass half empty. Circ. Res. 2013, 112:707-720.
-
(2013)
Circ. Res.
, vol.112
, pp. 707-720
-
-
Fahed, A.C.1
Gelb, B.D.2
Seidman, J.G.3
Seidman, C.E.4
-
5
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg V., et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003, 424:443-447.
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
-
6
-
-
0037134945
-
The incidence of congenital heart disease
-
Hoffman J.I., Kaplan S. The incidence of congenital heart disease. J. Am. Coll. Cardiol. 2002, 39:1890-1900.
-
(2002)
J. Am. Coll. Cardiol.
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.1
Kaplan, S.2
-
7
-
-
0028910107
-
Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA
-
Huang W.Y., Cukerman E., Liew C.C. Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA. Gene 1995, 155:219-223.
-
(1995)
Gene
, vol.155
, pp. 219-223
-
-
Huang, W.Y.1
Cukerman, E.2
Liew, C.C.3
-
8
-
-
0027440699
-
Congenital heart disease in adolescents and adults. Natural and postoperative history across age groups
-
Kaplan S. Congenital heart disease in adolescents and adults. Natural and postoperative history across age groups. Cardiol. Clin. 1993, 11:543-556.
-
(1993)
Cardiol. Clin.
, vol.11
, pp. 543-556
-
-
Kaplan, S.1
-
9
-
-
0027299922
-
DNA-binding specificities of the GATA transcription factor family
-
Ko L.J., Engel J.D. DNA-binding specificities of the GATA transcription factor family. Mol. Cell. Biol. 1993, 13:4011-4022.
-
(1993)
Mol. Cell. Biol.
, vol.13
, pp. 4011-4022
-
-
Ko, L.J.1
Engel, J.D.2
-
10
-
-
0014540685
-
Congenital pulmonary stenosis resulting from dysplasia of valve
-
Koretzky E.D., Moller J.H., Korns M.E., Schwartz C.J., Edwards J.E. Congenital pulmonary stenosis resulting from dysplasia of valve. Circulation 1969, 40:43-53.
-
(1969)
Circulation
, vol.40
, pp. 43-53
-
-
Koretzky, E.D.1
Moller, J.H.2
Korns, M.E.3
Schwartz, C.J.4
Edwards, J.E.5
-
11
-
-
84863681671
-
Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo
-
Misra C., et al. Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. PLoS Genet. 2012, 8:e1002690.
-
(2012)
PLoS Genet.
, vol.8
-
-
Misra, C.1
-
12
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003, 31:3812-3814.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
13
-
-
16544371915
-
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
-
Okubo A., et al. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J. Med. Genet. 2004, 41:e97.
-
(2004)
J. Med. Genet.
, vol.41
-
-
Okubo, A.1
-
14
-
-
34548297904
-
Analysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. Loss of DNA binding is associated with localization in intranuclear speckles
-
Philips A.S., Kwok J.C., Chong B.H. Analysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. Loss of DNA binding is associated with localization in intranuclear speckles. J. Biol. Chem. 2007, 282:24915-24927.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 24915-24927
-
-
Philips, A.S.1
Kwok, J.C.2
Chong, B.H.3
-
15
-
-
37849053289
-
Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
-
Posch M.G., et al. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am. J. Med. Genet. A 2008, 146A:251-253.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 251-253
-
-
Posch, M.G.1
-
16
-
-
77950862306
-
Molecular genetics of congenital atrial septal defects
-
Posch M.G., Perrot A., Berger F., Ozcelik C. Molecular genetics of congenital atrial septal defects. Clin. Res. Cardiol. 2010, 99:137-147.
-
(2010)
Clin. Res. Cardiol.
, vol.99
, pp. 137-147
-
-
Posch, M.G.1
Perrot, A.2
Berger, F.3
Ozcelik, C.4
-
17
-
-
35048838310
-
Spectrum of heart disease associated with murine and human GATA4 mutation
-
Rajagopal S.K., et al. Spectrum of heart disease associated with murine and human GATA4 mutation. J. Mol. Cell. Cardiol. 2007, 43:677-685.
-
(2007)
J. Mol. Cell. Cardiol.
, vol.43
, pp. 677-685
-
-
Rajagopal, S.K.1
-
18
-
-
26444441866
-
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
-
Reamon-Buettner S.M., Borlak J. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J. Med. Genet. 2005, 42:e32.
-
(2005)
J. Med. Genet.
, vol.42
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
19
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz J.M., Rodelsperger C., Schuelke M., Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 2010, 7:575-576.
-
(2010)
Nat. Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
20
-
-
0034191958
-
Towards a structural basis of human non-synonymous single nucleotide polymorphisms
-
Sunyaev S., Ramensky V., Bork P. Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet. 2000, 16:198-200.
-
(2000)
Trends Genet.
, vol.16
, pp. 198-200
-
-
Sunyaev, S.1
Ramensky, V.2
Bork, P.3
-
21
-
-
84867652053
-
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle
-
Tan Z.P., Huang C., Xu Z.B., Yang J.F., Yang Y.F. Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin. Genet. 2012, 82:466-471.
-
(2012)
Clin. Genet.
, vol.82
, pp. 466-471
-
-
Tan, Z.P.1
Huang, C.2
Xu, Z.B.3
Yang, J.F.4
Yang, Y.F.5
-
23
-
-
37249090635
-
GATA4 sequence variants in patients with congenital heart disease
-
Tomita-Mitchell A., Maslen C.L., Morris C.D., Garg V., Goldmuntz E. GATA4 sequence variants in patients with congenital heart disease. J. Med. Genet. 2007, 44:779-783.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 779-783
-
-
Tomita-Mitchell, A.1
Maslen, C.L.2
Morris, C.D.3
Garg, V.4
Goldmuntz, E.5
-
24
-
-
84876526906
-
Identification of functional mutations in GATA4 in patients with congenital heart disease
-
Wang E., et al. Identification of functional mutations in GATA4 in patients with congenital heart disease. PLoS One 2013, 8:e62138.
-
(2013)
PLoS One
, vol.8
-
-
Wang, E.1
-
25
-
-
77957601615
-
Genetic factors in non-syndromic congenital heart malformations
-
Wessels M.W., Willems P.J. Genetic factors in non-syndromic congenital heart malformations. Clin. Genet. 2010, 78:103-123.
-
(2010)
Clin. Genet.
, vol.78
, pp. 103-123
-
-
Wessels, M.W.1
Willems, P.J.2
-
26
-
-
84873409524
-
Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease
-
Xiong F., et al. Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease. Cardiovasc. Pathol. 2013, 22:141-145.
-
(2013)
Cardiovasc. Pathol.
, vol.22
, pp. 141-145
-
-
Xiong, F.1
-
27
-
-
56649112929
-
GATA4 mutations in 486 Chinese patients with congenital heart disease
-
Zhang W., Li X., Shen A., Jiao W., Guan X., Li Z. GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur. J. Med. Genet. 2008, 51:527-535.
-
(2008)
Eur. J. Med. Genet.
, vol.51
, pp. 527-535
-
-
Zhang, W.1
Li, X.2
Shen, A.3
Jiao, W.4
Guan, X.5
Li, Z.6
-
28
-
-
84875235752
-
Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening
-
Zhao Q.M., Ma X.J., Jia B., Huang G.Y. Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening. Acta Paediatr. 2013, 102:397-402.
-
(2013)
Acta Paediatr.
, vol.102
, pp. 397-402
-
-
Zhao, Q.M.1
Ma, X.J.2
Jia, B.3
Huang, G.Y.4
|