-
1
-
-
0035289344
-
Racial and temporal variations in the prevalence of heart defects
-
Botto, L.D., Correa, A. and Erickson, J.D. (2001) Racial and temporal variations in the prevalence of heart defects. Pediatrics, 107, E32.
-
(2001)
Pediatrics
, vol.107
, pp. E32
-
-
Botto, L.D.1
Correa, A.2
Erickson, J.D.3
-
2
-
-
0021914513
-
Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study
-
Ferencz, C., Rubin, J.D., McCarter, R.J., Brenner, J.I., Neill, C.A., Perry, L.W., Hepner, S.I. and Downing, J.W. (1985) Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am. J. Epidemiol., 121, 31-36.
-
(1985)
Am. J. Epidemiol.
, vol.121
, pp. 31-36
-
-
Ferencz, C.1
Rubin, J.D.2
McCarter, R.J.3
Brenner, J.I.4
Neill, C.A.5
Perry, L.W.6
Hepner, S.I.7
Downing, J.W.8
-
3
-
-
59149100748
-
Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century
-
Moons,P., Sluysmans, T., DeWolf, D., Massin, M., Suys, B., Benatar, A. and Gewillig, M. (2009) Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr., 98, 472-477.
-
(2009)
Acta Paediatr.
, vol.98
, pp. 472-477
-
-
Moons, P.1
Sluysmans, T.2
DeWolf, D.3
Massin, M.4
Suys, B.5
Benatar, A.6
Gewillig, M.7
-
4
-
-
33750476343
-
Racial differences in infant mortality attributable to birth defects in the United States, 1989-2002
-
Yang, Q., Chen, H., Correa, A., Devine, O., Mathews, T.J. and Honein, M.A. (2006) Racial differences in infant mortality attributable to birth defects in the United States, 1989-2002. Birth Defects Res. A Clin. Mol. Teratol., 76, 706-713.
-
(2006)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.76
, pp. 706-713
-
-
Yang, Q.1
Chen, H.2
Correa, A.3
Devine, O.4
Mathews, T.J.5
Honein, M.A.6
-
5
-
-
67650552605
-
Trends in hospitalizations for adults with congenital heart disease in the U.S
-
Opotowsky, A.R., Siddiqi, O.K. and Webb, G.D. (2009) Trends in hospitalizations for adults with congenital heart disease in the U.S. J. Am. Coll. Cardiol., 54, 460-467.
-
(2009)
J. Am. Coll. Cardiol.
, vol.54
, pp. 460-467
-
-
Opotowsky, A.R.1
Siddiqi, O.K.2
Webb, G.D.3
-
6
-
-
78651515983
-
The changing epidemiology of congenital heart disease
-
van der Bom, T., Zomer, A.C., Zwinderman, A.H., Meijboom, F.J., Bouma, B.J. and Mulder, B.J. (2011) The changing epidemiology of congenital heart disease. Nat. Rev. Cardiol., 8, 50-60.
-
(2011)
Nat. Rev. Cardiol.
, vol.8
, pp. 50-60
-
-
van der Bom, T.1
Zomer, A.C.2
Zwinderman, A.H.3
Meijboom, F.J.4
Bouma, B.J.5
Mulder, B.J.6
-
7
-
-
33645473405
-
Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation
-
van Beynum, I.M., Kapusta, L., den Heijer, M., Vermeulen, S.H., Kouwenberg, M., Daniels, O. and Blom, H.J. (2006) Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur. Heart J., 27, 981-987.
-
(2006)
Eur. Heart J.
, vol.27
, pp. 981-987
-
-
van Beynum, I.M.1
Kapusta, L.2
den Heijer, M.3
Vermeulen, S.H.4
Kouwenberg, M.5
Daniels, O.6
Blom, H.J.7
-
8
-
-
77955152092
-
Maternal folate-related gene environment interactions and congenital heart defects
-
Hobbs, C.A., Cleves, M.A., Karim, M.A., Zhao, W. and MacLeod, S.L. (2010) Maternal folate-related gene environment interactions and congenital heart defects. Obstet. Gynecol., 116, 316-322.
-
(2010)
Obstet. Gynecol.
, vol.116
, pp. 316-322
-
-
Hobbs, C.A.1
Cleves, M.A.2
Karim, M.A.3
Zhao, W.4
MacLeod, S.L.5
-
9
-
-
29544453082
-
Congenital heart defects, maternal homocysteine, smoking, and the 677C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions
-
Hobbs, C.A., James, S.J., Jernigan, S., Melnyk, S., Lu, Y., Malik, S. and Cleves, M.A. (2006) Congenital heart defects, maternal homocysteine, smoking, and the 677C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions. Am. J. Obstet. Gynecol., 194, 218-224.
-
(2006)
Am. J. Obstet. Gynecol.
, vol.194
, pp. 218-224
-
-
Hobbs, C.A.1
James, S.J.2
Jernigan, S.3
Melnyk, S.4
Lu, Y.5
Malik, S.6
Cleves, M.A.7
-
10
-
-
84871209371
-
Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study
-
Lupo, P.J., Canfield, M.A., Chapa, C., Lu, W., Agopian, A.J., Mitchell, L.E., Shaw, G.M., Waller, D.K., Olshan, A.F., Finnell, R.H. et al. (2012) Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study. Am. J. Epidemiol., 176, 1101-1109.
-
(2012)
Am. J. Epidemiol.
, vol.176
, pp. 1101-1109
-
-
Lupo, P.J.1
Canfield, M.A.2
Chapa, C.3
Lu, W.4
Agopian, A.J.5
Mitchell, L.E.6
Shaw, G.M.7
Waller, D.K.8
Olshan, A.F.9
Finnell, R.H.10
-
11
-
-
35348837913
-
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
-
Botto, L.D., Lin, A.E., Riehle-Colarusso, T., Malik, S. and Correa, A. and National Birth Defects Prevention Study. (2007) Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res. A Clin. Mol. Teratol., 79, 714-727.
-
(2007)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.79
, pp. 714-727
-
-
Botto, L.D.1
Lin, A.E.2
Riehle-Colarusso, T.3
Malik, S.4
Correa, A.5
National Birth Defects Prevention, Study.6
-
12
-
-
84866070546
-
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
-
Soemedi, R., Wilson, I.J., Bentham, J., Darlay, R., Topf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J. et al. (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am. J. Hum. Genet., 91, 489-501.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 489-501
-
-
Soemedi, R.1
Wilson, I.J.2
Bentham, J.3
Darlay, R.4
Topf, A.5
Zelenika, D.6
Cosgrove, C.7
Setchfield, K.8
Thornborough, C.9
Granados-Riveron, J.10
-
13
-
-
84879001958
-
De novo mutations in histone-modifying genes in congenital heart disease
-
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J.D., Romano-Adesman, A., Bjornson, R.D., Breitbart, R.E., Brown, K.K. et al. (2013) De novo mutations in histone-modifying genes in congenital heart disease. Nature, 498, 220-223.
-
(2013)
Nature
, vol.498
, pp. 220-223
-
-
Zaidi, S.1
Choi, M.2
Wakimoto, H.3
Ma, L.4
Jiang, J.5
Overton, J.D.6
Romano-Adesman, A.7
Bjornson, R.D.8
Breitbart, R.E.9
Brown, K.K.10
-
14
-
-
84866915849
-
Rare copy number variants contribute to congenital left-sided heart disease
-
Hitz, M.P., Lemieux-Perreault, L.P., Marshall, C., Feroz-Zada, Y., Davies, R., Yang, S.W., Lionel, A.C., D'Amours, G., Lemyre, E., Cullum, R. et al. (2012) Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet, 8, e1002903.
-
(2012)
PLoS Genet
, vol.8
, pp. e1002903
-
-
Hitz, M.P.1
Lemieux-Perreault, L.P.2
Marshall, C.3
Feroz-Zada, Y.4
Davies, R.5
Yang, S.W.6
Lionel, A.C.7
D'Amours, G.8
Lemyre, E.9
Cullum, R.10
-
15
-
-
84891879501
-
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
-
Warburton, D., Ronemus, M., Kline, J., Jobanputra, V., Williams, I., Anyane-Yeboa, K., Chung, W., Yu, L., Wong,N., Awad, D. et al. (2014) The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum. Genet., 133, 11-27.
-
(2014)
Hum. Genet.
, vol.133
, pp. 11-27
-
-
Warburton, D.1
Ronemus, M.2
Kline, J.3
Jobanputra, V.4
Williams, I.5
Anyane-Yeboa, K.6
Chung, W.7
Yu, L.8
Wong, N.9
Awad, D.10
-
16
-
-
84892379085
-
Effect of copy number variants on outcomes for infants with single ventricle heart defects
-
Carey, A.S., Liang, L., Edwards, J., Brandt, T., Mei, H., Sharp, A.J., Hsu, D.T., Newburger, J.W., Ohye, R.G., Chung,W.K.et al. (2013) Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ. Cardiovasc. Genet., 6, 444-451.
-
(2013)
Circ. Cardiovasc. Genet.
, vol.6
, pp. 444-451
-
-
Carey, A.S.1
Liang, L.2
Edwards, J.3
Brandt, T.4
Mei, H.5
Sharp, A.J.6
Hsu, D.T.7
Newburger, J.W.8
Ohye, R.G.9
Chung, W.K.10
-
17
-
-
20144388158
-
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability
-
McBride, K.L., Pignatelli, R., Lewin, M., Ho, T., Fernbach, S., Menesses, A., Lam, W., Leal, S.M., Kaplan, N., Schliekelman, P. et al. (2005) Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am. J. Med. Genet. A, 134A, 180-186.
-
(2005)
Am. J. Med. Genet. A
, vol.134 A
, pp. 180-186
-
-
McBride, K.L.1
Pignatelli, R.2
Lewin, M.3
Ho, T.4
Fernbach, S.5
Menesses, A.6
Lam, W.7
Leal, S.M.8
Kaplan, N.9
Schliekelman, P.10
-
18
-
-
67349152804
-
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)
-
McBride, K.L., Zender, G.A., Fitzgerald-Butt, S.M., Koehler, D., Menesses-Diaz, A., Fernbach, S., Lee, K., Towbin, J.A., Leal, S. and Belmont, J.W. (2009) Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur. J. Hum. Genet., 17, 811-819.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 811-819
-
-
McBride, K.L.1
Zender, G.A.2
Fitzgerald-Butt, S.M.3
Koehler, D.4
Menesses-Diaz, A.5
Fernbach, S.6
Lee, K.7
Towbin, J.A.8
Leal, S.9
Belmont, J.W.10
-
19
-
-
61949160625
-
Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve
-
Hinton, R.B., Martin, L.J., Rame-Gowda, S., Tabangin, M.E., Cripe, L.H. and Benson, D.W. (2009) Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J. Am. Coll. Cardiol., 53, 1065-1071.
-
(2009)
J. Am. Coll. Cardiol.
, vol.53
, pp. 1065-1071
-
-
Hinton, R.B.1
Martin, L.J.2
Rame-Gowda, S.3
Tabangin, M.E.4
Cripe, L.H.5
Benson, D.W.6
-
20
-
-
79952593835
-
Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects
-
McBride, K.L., Zender, G.A., Fitzgerald-Butt, S.M., Seagraves, N.J., Fernbach, S.D., Zapata, G., Lewin, M., Towbin, J.A. and Belmont, J.W. (2011) Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res. A Clin. Mol. Teratol., 91, 162-168.
-
(2011)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.91
, pp. 162-168
-
-
McBride, K.L.1
Zender, G.A.2
Fitzgerald-Butt, S.M.3
Seagraves, N.J.4
Fernbach, S.D.5
Zapata, G.6
Lewin, M.7
Towbin, J.A.8
Belmont, J.W.9
-
21
-
-
77958111908
-
Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001
-
Boyles, A.L., DeRoo, L.A., Lie, R.T., Taylor, J.A., Jugessur, A., Murray, J.C. and Wilcox, A.J. (2010) Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001. Am. J. Epidemiol., 172, 924-931.
-
(2010)
Am. J. Epidemiol.
, vol.172
, pp. 924-931
-
-
Boyles, A.L.1
DeRoo, L.A.2
Lie, R.T.3
Taylor, J.A.4
Jugessur, A.5
Murray, J.C.6
Wilcox, A.J.7
-
22
-
-
84869096282
-
Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias
-
van der Zanden, L.F., Galesloot, T.E., Feitz, W.F., Brouwers, M.M., Shi, M., Knoers, N.V., Franke, B., Roeleveld, N. and van Rooij, I.A. (2012) Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias. J. Urol., 188, 2354-2360.
-
(2012)
J. Urol.
, vol.188
, pp. 2354-2360
-
-
van der Zanden, L.F.1
Galesloot, T.E.2
Feitz, W.F.3
Brouwers, M.M.4
Shi, M.5
Knoers, N.V.6
Franke, B.7
Roeleveld, N.8
van Rooij, I.A.9
-
23
-
-
84859565662
-
Association between MTHFR polymorphisms and orofacial clefts risk: a meta-analysis
-
Luo, Y.L., Cheng, Y.L., Ye, P., Wang, W., Gao, X.H. and Chen, Q. (2012) Association between MTHFR polymorphisms and orofacial clefts risk: a meta-analysis. Birth Defects Res. A Clin. Mol. Teratol., 94, 237-244.
-
(2012)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.94
, pp. 237-244
-
-
Luo, Y.L.1
Cheng, Y.L.2
Ye, P.3
Wang, W.4
Gao, X.H.5
Chen, Q.6
-
24
-
-
84872501737
-
Association between MTR A2756G and MTRR A66G polymorphisms and maternal risk for neural tube defects: a meta-analysis
-
Ouyang, S., Li, Y., Liu, Z., Chang, H. and Wu, J. (2013) Association between MTR A2756G and MTRR A66G polymorphisms and maternal risk for neural tube defects: a meta-analysis. Gene, 515, 308-312.
-
(2013)
Gene
, vol.515
, pp. 308-312
-
-
Ouyang, S.1
Li, Y.2
Liu, Z.3
Chang, H.4
Wu, J.5
-
25
-
-
45749089363
-
Maternal genotype effects can alias case genotype effects in case-control studies
-
Buyske, S. (2008) Maternal genotype effects can alias case genotype effects in case-control studies. Eur. J. Hum. Genet., 16, 783-785.
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, pp. 783-785
-
-
Buyske, S.1
-
26
-
-
0032211487
-
Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads"
-
Wilcox, A.J., Weinberg, C.R. and Lie, R.T. (1998) Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads". Am. J. Epidemiol., 148, 893-901.
-
(1998)
Am. J. Epidemiol.
, vol.148
, pp. 893-901
-
-
Wilcox, A.J.1
Weinberg, C.R.2
Lie, R.T.3
-
27
-
-
84863987483
-
INRICH: interval-based enrichment analysis for genome-wide association studies
-
Lee, P.H., O'Dushlaine, C., Thomas, B. and Purcell, S.M. (2012) INRICH: interval-based enrichment analysis for genome-wide association studies. Bioinformatics, 28, 1797-1799.
-
(2012)
Bioinformatics
, vol.28
, pp. 1797-1799
-
-
Lee, P.H.1
O'Dushlaine, C.2
Thomas, B.3
Purcell, S.M.4
-
28
-
-
34548026082
-
Identification of a novel human zinc finger gene, ZNF438, with transcription inhibition activity
-
Zhong, Z., Wan, B., Qiu, Y., Ni, J., Tang, W., Chen, X., Yang, Y., Shen, S., Wang, Y., Bai, M. et al. (2007) Identification of a novel human zinc finger gene, ZNF438, with transcription inhibition activity. J. Biochem. Mol. Biol., 40, 517-524.
-
(2007)
J. Biochem. Mol. Biol.
, vol.40
, pp. 517-524
-
-
Zhong, Z.1
Wan, B.2
Qiu, Y.3
Ni, J.4
Tang, W.5
Chen, X.6
Yang, Y.7
Shen, S.8
Wang, Y.9
Bai, M.10
-
29
-
-
27144469476
-
Molecular cloning and characterization of three novel lysozyme-like genes, predominantly expressed in the male reproductive system of humans, belonging to the c-type lysozyme/alpha-lactalbumin family
-
Zhang, K., Gao, R., Zhang, H., Cai, X., Shen, C., Wu, C., Zhao, S. and Yu, L. (2005) Molecular cloning and characterization of three novel lysozyme-like genes, predominantly expressed in the male reproductive system of humans, belonging to the c-type lysozyme/alpha-lactalbumin family. Biol. Reprod., 73, 1064-1071.
-
(2005)
Biol. Reprod.
, vol.73
, pp. 1064-1071
-
-
Zhang, K.1
Gao, R.2
Zhang, H.3
Cai, X.4
Shen, C.5
Wu, C.6
Zhao, S.7
Yu, L.8
-
30
-
-
10744229696
-
Cloning and sequence analysis of the humanc DNA encoding the synaptoporin (delta), a highly conservative synaptic vesicle protein
-
Dai, J., Ji, C., Gu, S., Wu, Q., Wang, L., Xu, J., Zeng, L., Ye, X., Yin, G., Xie, Y. et al. (2003) Cloning and sequence analysis of the humanc DNA encoding the synaptoporin (delta), a highly conservative synaptic vesicle protein. Mol. Biol. Rep., 30, 185-191.
-
(2003)
Mol. Biol. Rep.
, vol.30
, pp. 185-191
-
-
Dai, J.1
Ji, C.2
Gu, S.3
Wu, Q.4
Wang, L.5
Xu, J.6
Zeng, L.7
Ye, X.8
Yin, G.9
Xie, Y.10
-
31
-
-
22044432304
-
Functional profiling of human atrial and ventricular gene expression
-
Barth, A.S., Merk, S., Arnoldi, E., Zwermann, L., Kloos, P., Gebauer, M., Steinmeyer, K., Bleich, M., Kaab, S., Pfeufer, A. et al. (2005) Functional profiling of human atrial and ventricular gene expression. Pflugers Arch., 450, 201-208.
-
(2005)
Pflugers Arch.
, vol.450
, pp. 201-208
-
-
Barth, A.S.1
Merk, S.2
Arnoldi, E.3
Zwermann, L.4
Kloos, P.5
Gebauer, M.6
Steinmeyer, K.7
Bleich, M.8
Kaab, S.9
Pfeufer, A.10
-
32
-
-
33746926015
-
Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract
-
Seo, S. and Kume, T. (2006) Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract. Dev. Biol., 296, 421-436.
-
(2006)
Dev. Biol.
, vol.296
, pp. 421-436
-
-
Seo, S.1
Kume, T.2
-
33
-
-
74249115602
-
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
-
Shaw-Smith, C. (2010) Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur. J. Med. Genet., 53, 6-13.
-
(2010)
Eur. J. Med. Genet.
, vol.53
, pp. 6-13
-
-
Shaw-Smith, C.1
-
34
-
-
66449113643
-
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
-
Stankiewicz, P., Sen, P., Bhatt, S.S., Storer, M., Xia, Z., Bejjani, B.A., Ou, Z., Wiszniewska, J., Driscoll, D.J., Maisenbacher, M.K. et al. (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am. J. Hum. Genet., 84, 780-791.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 780-791
-
-
Stankiewicz, P.1
Sen, P.2
Bhatt, S.S.3
Storer, M.4
Xia, Z.5
Bejjani, B.A.6
Ou, Z.7
Wiszniewska, J.8
Driscoll, D.J.9
Maisenbacher, M.K.10
-
35
-
-
84860555735
-
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
-
Iascone, M., Ciccone, R., Galletti, L., Marchetti, D., Seddio, F., Lincesso, A.R., Pezzoli, L., Vetro, A., Barachetti, D., Boni, L. et al. (2012) Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin. Genet., 81, 542-554.
-
(2012)
Clin. Genet.
, vol.81
, pp. 542-554
-
-
Iascone, M.1
Ciccone, R.2
Galletti, L.3
Marchetti, D.4
Seddio, F.5
Lincesso, A.R.6
Pezzoli, L.7
Vetro, A.8
Barachetti, D.9
Boni, L.10
-
36
-
-
84858770543
-
Transcription factor pathways and congenital heart disease
-
McCulley, D.J. and Black, B.L. (2012) Transcription factor pathways and congenital heart disease. Curr. Top. Dev. Biol., 100, 253-277.
-
(2012)
Curr. Top. Dev. Biol.
, vol.100
, pp. 253-277
-
-
McCulley, D.J.1
Black, B.L.2
-
37
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
Schott, J.J., Benson, D.W., Basson, C.T., Pease, W., Silberbach, G.M., Moak, J.P., Maron, B.J., Seidman, C.E. and Seidman, J.G. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science, 281, 108-111.
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
Pease, W.4
Silberbach, G.M.5
Moak, J.P.6
Maron, B.J.7
Seidman, C.E.8
Seidman, J.G.9
-
38
-
-
84872387772
-
Association between reported venlafaxine use in early pregnancy and birth defects, national birth defects prevention study, 1997-2007
-
Polen, K.N., Rasmussen, S.A., Riehle-Colarusso, T. and Reefhuis, J. and National Birth Defects Prevention Study. (2013) Association between reported venlafaxine use in early pregnancy and birth defects, national birth defects prevention study, 1997-2007. Birth Defects Res. A Clin. Mol. Teratol., 97, 28-35.
-
(2013)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.97
, pp. 28-35
-
-
Polen, K.N.1
Rasmussen, S.A.2
Riehle-Colarusso, T.3
Reefhuis, J.4
National Birth Defects Prevention, Study.5
-
39
-
-
79953289743
-
Maternal treatment with opioid analgesics and risk for birth defects
-
314.e311-311
-
Broussard, C.S., Rasmussen, S.A., Reefhuis, J., Friedman, J.M., Jann, M.W., Riehle-Colarusso, T. and Honein, M.A. and National Birth Defects Prevention Study. (2011) Maternal treatment with opioid analgesics and risk for birth defects. Am. J. Obstet. Gynecol., 204, 314. e311-311.
-
(2011)
Am. J. Obstet. Gynecol.
, vol.204
-
-
Broussard, C.S.1
Rasmussen, S.A.2
Reefhuis, J.3
Friedman, J.M.4
Jann, M.W.5
Riehle-Colarusso, T.6
Honein, M.A.7
-
40
-
-
77953915501
-
Maternal use of bupropion and risk for congenital heart defects
-
52.e51-56
-
Alwan, S., Reefhuis, J., Botto, L.D., Rasmussen, S.A., Correa, A. and Friedman, J.M. and National Birth Defects Prevention Study. (2010) Maternal use of bupropion and risk for congenital heart defects. Am. J. Obstet. Gynecol., 203, 52. e51-56.
-
(2010)
Am. J. Obstet. Gynecol.
, vol.203
-
-
Alwan, S.1
Reefhuis, J.2
Botto, L.D.3
Rasmussen, S.A.4
Correa, A.5
Friedman, J.M.6
-
41
-
-
72149118207
-
Association between prepregnancy body mass index and congenital heart defects
-
Gilboa, S.M., Correa, A., Botto, L.D., Rasmussen, S.A., Waller, D.K., Hobbs, C.A., Cleves, M.A. and Riehle-Colarusso, T.J. and National Birth Defects Prevention Study. (2010) Association between prepregnancy body mass index and congenital heart defects. Am. J. Obstet. Gynecol., 202, 51. e51-51 e10.
-
(2010)
Am. J. Obstet. Gynecol.
, vol.202
, pp. 51.e51-51e10
-
-
Gilboa, S.M.1
Correa, A.2
Botto, L.D.3
Rasmussen, S.A.4
Waller, D.K.5
Hobbs, C.A.6
Cleves, M.A.7
Riehle-Colarusso, T.J.8
-
42
-
-
84875272446
-
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
-
Cordell, H.J., Topf, A., Mamasoula,C., Postma, A.V., Bentham,J., Zelenika, D., Heath, S., Blue, G., Cosgrove, C., Granados Riveron, J. et al. (2013) Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum. Mol. Genet., 22, 1473-1481.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 1473-1481
-
-
Cordell, H.J.1
Topf, A.2
Mamasoula, C.3
Postma, A.V.4
Bentham, J.5
Zelenika, D.6
Heath, S.7
Blue, G.8
Cosgrove, C.9
Granados Riveron, J.10
-
43
-
-
84879694320
-
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations
-
Hu,Z., Shi,Y., Mo,X., Xu, J., Zhao,B., Lin,Y., Yang, S., Xu,Z., Dai, J., Pan, S. et al. (2013) A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat. Genet., 45, 818-821.
-
(2013)
Nat. Genet.
, vol.45
, pp. 818-821
-
-
Hu, Z.1
Shi, Y.2
Mo, X.3
Xu, J.4
Zhao, B.5
Lin, Y.6
Yang, S.7
Xu, Z.8
Dai, J.9
Pan, S.10
-
44
-
-
84879687374
-
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
-
Cordell, H.J., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K. et al. (2013) Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat. Genet., 45, 822-824.
-
(2013)
Nat. Genet.
, vol.45
, pp. 822-824
-
-
Cordell, H.J.1
Bentham, J.2
Topf, A.3
Zelenika, D.4
Heath, S.5
Mamasoula, C.6
Cosgrove, C.7
Blue, G.8
Granados-Riveron, J.9
Setchfield, K.10
-
45
-
-
34547621758
-
Agenome-wide association study identifiesKIAA0350as a type 1 diabetes gene
-
Hakonarson, H., Grant, S.F., Bradfield, J.P., Marchand, L., Kim, C.E., Glessner, J.T., Grabs, R., Casalunovo, T., Taback, S.P., Frackelton, E.C. et al. (2007) Agenome-wide association study identifiesKIAA0350as a type 1 diabetes gene. Nature, 448, 591-594.
-
(2007)
Nature
, vol.448
, pp. 591-594
-
-
Hakonarson, H.1
Grant, S.F.2
Bradfield, J.P.3
Marchand, L.4
Kim, C.E.5
Glessner, J.T.6
Grabs, R.7
Casalunovo, T.8
Taback, S.P.9
Frackelton, E.C.10
-
46
-
-
37549064336
-
MACH 1.0: rapid haplotype reconstruction and missing genotype inference
-
S79
-
Li, Y. and Abecasis, G. (2006) MACH 1.0: rapid haplotype reconstruction and missing genotype inference. Am. J. Hum. Genet., S79, 2290.
-
(2006)
Am. J. Hum. Genet.
, pp. 2290
-
-
Li, Y.1
Abecasis, G.2
-
47
-
-
65449139505
-
Importance of gene-environment interactions in the etiology of selected birth defects
-
Zhu, H., Kartiko, S. and Finnell, R.H. (2009) Importance of gene-environment interactions in the etiology of selected birth defects. Clin. Genet., 75, 409-423.
-
(2009)
Clin. Genet.
, vol.75
, pp. 409-423
-
-
Zhu, H.1
Kartiko, S.2
Finnell, R.H.3
-
48
-
-
0031949066
-
A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting
-
Weinberg, C.R., Wilcox, A.J. and Lie, R.T. (1998) A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am. J. Hum. Genet., 62, 969-978.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 969-978
-
-
Weinberg, C.R.1
Wilcox, A.J.2
Lie, R.T.3
-
49
-
-
79954994407
-
MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models
-
Agopian, A.J. and Mitchell, L.E. (2011) MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models. BMC Bioinformatics, 12, 117.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 117
-
-
Agopian, A.J.1
Mitchell, L.E.2
-
50
-
-
0036844005
-
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
-
Doolin, M.T., Barbaux, S., McDonnell, M., Hoess, K., Whitehead, A.S. and Mitchell, L.E. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am. J. Hum. Genet., 71, 1222-1226.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1222-1226
-
-
Doolin, M.T.1
Barbaux, S.2
McDonnell, M.3
Hoess, K.4
Whitehead, A.S.5
Mitchell, L.E.6
-
51
-
-
3042723620
-
A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida
-
Jensen, L.E., Wall, A.M., Cook, M., Hoess, K., Thorn, C.F., Whitehead, A.S. and Mitchell, L.E. (2004) A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida. Birth Defects Res. A Clin. Mol. Teratol., 70, 396-399.
-
(2004)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.70
, pp. 396-399
-
-
Jensen, L.E.1
Wall, A.M.2
Cook, M.3
Hoess, K.4
Thorn, C.F.5
Whitehead, A.S.6
Mitchell, L.E.7
-
52
-
-
70149094161
-
Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in Mexican children
-
Hancock, D.B., Romieu, I., Shi, M., Sienra-Monge, J.J., Wu, H., Chiu, G.Y., Li, H., del Rio-Navarro, B.E., Willis-Owen, S.A., Weiss, S.T. et al. (2009) Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in Mexican children. PLoS Genet, 5, e1000623.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000623
-
-
Hancock, D.B.1
Romieu, I.2
Shi, M.3
Sienra-Monge, J.J.4
Wu, H.5
Chiu, G.Y.6
Li, H.7
del Rio-Navarro, B.E.8
Willis-Owen, S.A.9
Weiss, S.T.10
-
53
-
-
77956111572
-
A functional polymorphismin the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism
-
James, S.J., Melnyk, S., Jernigan, S., Pavliv, O., Trusty, T., Lehman, S., Seidel, L., Gaylor, D.W. and Cleves, M.A. (2010) A functional polymorphismin the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism. Am. J. Med. Genet. B Neuropsychiatr. Genet., 153B, 1209-1220.
-
(2010)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.153 B
, pp. 1209-1220
-
-
James, S.J.1
Melnyk, S.2
Jernigan, S.3
Pavliv, O.4
Trusty, T.5
Lehman, S.6
Seidel, L.7
Gaylor, D.W.8
Cleves, M.A.9
-
54
-
-
79955956345
-
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate
-
Martinelli, M., Masiero, E., Carinci, F., Morselli, P.G., Pezzetti, F. and Scapoli, L. (2011) New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. Eur. J. Oral Sci., 119, 193-197.
-
(2011)
Eur. J. Oral Sci.
, vol.119
, pp. 193-197
-
-
Martinelli, M.1
Masiero, E.2
Carinci, F.3
Morselli, P.G.4
Pezzetti, F.5
Scapoli, L.6
-
55
-
-
84867950931
-
Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study
-
Lupo, P.J., Nousome, D., Okcu, M.F., Chintagumpala, M. and Scheurer, M.E. (2012) Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study. Pediatr. Hematol. Oncol., 29, 679-685.
-
(2012)
Pediatr. Hematol. Oncol.
, vol.29
, pp. 679-685
-
-
Lupo, P.J.1
Nousome, D.2
Okcu, M.F.3
Chintagumpala, M.4
Scheurer, M.E.5
-
56
-
-
84862780433
-
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts
-
Shi, M., Murray, J.C., Marazita, M.L., Munger, R.G., Ruczinski, I., Hetmanski, J.B., Wu, T., Murray, T., Redett, R.J., Wilcox, A.J. et al. (2012) Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. Am. J. Med. Genet. A, 158A, 784-794.
-
(2012)
Am. J. Med. Genet. A
, vol.158 A
, pp. 784-794
-
-
Shi, M.1
Murray, J.C.2
Marazita, M.L.3
Munger, R.G.4
Ruczinski, I.5
Hetmanski, J.B.6
Wu, T.7
Murray, T.8
Redett, R.J.9
Wilcox, A.J.10
-
57
-
-
0033362166
-
Allowing for missing parents in genetic studies of case-parent triads
-
Weinberg, C.R. (1999) Allowing for missing parents in genetic studies of case-parent triads. Am. J. Hum. Genet., 64, 1186-1193.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1186-1193
-
-
Weinberg, C.R.1
-
58
-
-
26444557985
-
Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design
-
Mitchell, L.E. and Weinberg, C.R. (2005) Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design. Am. J. Epidemiol., 162, 676-685.
-
(2005)
Am. J. Epidemiol.
, vol.162
, pp. 676-685
-
-
Mitchell, L.E.1
Weinberg, C.R.2
-
59
-
-
0015091972
-
Frequency in relatives for an all-or-none trait
-
James, J.W. (1971) Frequency in relatives for an all-or-none trait. Ann. Hum. Genet., 35, 47-49.
-
(1971)
Ann. Hum. Genet.
, vol.35
, pp. 47-49
-
-
James, J.W.1
-
60
-
-
84895510920
-
Functional annotation of noncoding sequence variants
-
Ritchie, G.R., Dunham, I., Zeggini, E. and Flicek, P. (2014) Functional annotation of noncoding sequence variants. Nat. Methods, 11, 294-296.
-
(2014)
Nat. Methods
, vol.11
, pp. 294-296
-
-
Ritchie, G.R.1
Dunham, I.2
Zeggini, E.3
Flicek, P.4
-
61
-
-
77957232748
-
Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies
-
Yang, T.P., Beazley, C., Montgomery, S.B., Dimas, A.S., Gutierrez-Arcelus, M., Stranger, B.E., Deloukas, P. and Dermitzakis, E.T. (2010) Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics, 26, 2474-2476.
-
(2010)
Bioinformatics
, vol.26
, pp. 2474-2476
-
-
Yang, T.P.1
Beazley, C.2
Montgomery, S.B.3
Dimas, A.S.4
Gutierrez-Arcelus, M.5
Stranger, B.E.6
Deloukas, P.7
Dermitzakis, E.T.8
|