-
1
-
-
33750703551
-
-
Groningen: Department of Medical Genetics University Medical Centre
-
Bakker MK, van den Berg MD, Boonstra A, van Diem MT, Meijer WM, ter Beek L, et al. EUROCAT Northern Netherlands Registration of congenital anomalies (Tables 1981-2002). Groningen: Department of Medical Genetics University Medical Centre, 2005:1-56.
-
(2005)
EUROCAT Northern Netherlands Registration of Congenital Anomalies (Tables 1981-2002)
, pp. 1-56
-
-
Bakker, M.K.1
Van Den Berg, M.D.2
Boonstra, A.3
Van Diem, M.T.4
Meijer, W.M.5
Ter Beek, L.6
-
3
-
-
0037134945
-
The incidence of congenital heart disease
-
Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900.
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.1
Kaplan, S.2
-
4
-
-
0033065295
-
Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: Results of a seven year necropsy study
-
Tennstedt C, Chaoui R, Körner H, Dietel M. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study. Heart 1999;82:34-9.
-
(1999)
Heart
, vol.82
, pp. 34-39
-
-
Tennstedt, C.1
Chaoui, R.2
Körner, H.3
Dietel, M.4
-
5
-
-
0027080461
-
Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
-
Czeizel AE, Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992;327:1832-5.
-
(1992)
N Engl J Med
, vol.327
, pp. 1832-1835
-
-
Czeizel, A.E.1
Dudas, I.2
-
6
-
-
0025863475
-
Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study
-
MRC Vitamin Study Research Group
-
MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991;338:131-7.
-
(1991)
Lancet
, vol.338
, pp. 131-137
-
-
-
7
-
-
0018881168
-
Possible prevention of neural-tube defects by periconceptional vitamin supplementation
-
Smithells RW, Sheppard S, Schorah CJ, Seller MJ, Nevin NC, Harris R, et al. Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet 1980;1:339-40.
-
(1980)
Lancet
, vol.1
, pp. 339-340
-
-
Smithells, R.W.1
Sheppard, S.2
Schorah, C.J.3
Seller, M.J.4
Nevin, N.C.5
Harris, R.6
-
8
-
-
0029959091
-
Periconceptional multivitamin use and the occurrence of conotruncal heart defects: Results from a population-based, case-control study
-
Botto LD, Khoury MJ, Mulinare J, Erickson JD. Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics 1996;98:911-7.
-
(1996)
Pediatrics
, vol.98
, pp. 911-917
-
-
Botto, L.D.1
Khoury, M.J.2
Mulinare, J.3
Erickson, J.D.4
-
9
-
-
0041693011
-
Do multivitamin of folic acid supplements reduce the risk for congenital heart defects?
-
Botto LD, Mulinare J, Erickson JD. Do multivitamin of folic acid supplements reduce the risk for congenital heart defects? Am J Med Genet 2003;121A:95-101.
-
(2003)
Am J Med Genet
, vol.121 A
, pp. 95-101
-
-
Botto, L.D.1
Mulinare, J.2
Erickson, J.D.3
-
10
-
-
0032104612
-
Periconceptional folic acid containing multivitamin supplementation
-
Czeizel AE. Periconceptional folic acid containing multivitamin supplementation. Eur J Obstst Gynecol Reprod Biol 1998;78:151-61.
-
(1998)
Eur J Obstst Gynecol Reprod Biol
, vol.78
, pp. 151-161
-
-
Czeizel, A.E.1
-
11
-
-
0031975890
-
Periconceptional folate intake and malformations of the cardiac outflow tract
-
Scalon KS, Ferencz C, Loffredo CA, Wilson PD, Correa-Villasenor A, Khoury MJ, et al. Periconceptional folate intake and malformations of the cardiac outflow tract. Epidemiology 1998;9:95-8.
-
(1998)
Epidemiology
, vol.9
, pp. 95-98
-
-
Scalon, K.S.1
Ferencz, C.2
Loffredo, C.A.3
Wilson, P.D.4
Correa-Villasenor, A.5
Khoury, M.J.6
-
12
-
-
0028799948
-
Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring
-
Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, Lammer EJ. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet 1995;59:536-45.
-
(1995)
Am J Med Genet
, vol.59
, pp. 536-545
-
-
Shaw, G.M.1
O'Malley, C.D.2
Wasserman, C.R.3
Tolarova, M.M.4
Lammer, E.J.5
-
13
-
-
33645473405
-
Maternal MTHFR 677C > T is a risk factor for congenital heart defects: Effect modification by periconceptional folate supplementation
-
van Beynum IM, Kapusta L, den Heijer M, Vermeulen SH, Kouwenberg M, Daniëls O, et al. Maternal MTHFR 677C > T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur Heart J 2006;27:981-7.
-
(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
Daniëls, O.6
-
14
-
-
32944470812
-
Congenital heart defects and genetic variants in the methylenetetrahydrofolate reductase gene
-
Hobbs CA, James SJ, Parsian A, Krakowiak PA. Jernigan SL, Greenhaw JJ, et al. Congenital heart defects and genetic variants in the methylenetetrahydrofolate reductase gene. J Med Genet 2006;43:162-6.
-
(2006)
J Med Genet
, vol.43
, pp. 162-166
-
-
Hobbs, C.A.1
James, S.J.2
Parsian, A.3
Krakowiak, P.A.4
Jernigan, S.L.5
Greenhaw, J.J.6
-
15
-
-
0034935450
-
Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease
-
Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch HG, et al. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 2001;51:251-4.
-
(2001)
Cardiovasc Res
, vol.51
, pp. 251-254
-
-
Junker, R.1
Kotthoff, S.2
Vielhaber, H.3
Halimeh, S.4
Kosch, A.5
Koch, H.G.6
-
16
-
-
24344454621
-
Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes
-
Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, et al. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Am J Med Genet A 2005;138:21-6.
-
(2005)
Am J Med Genet A
, vol.138
, pp. 21-26
-
-
Shaw, G.M.1
Iovannisci, D.M.2
Yang, W.3
Finnell, R.H.4
Carmichael, S.L.5
Cheng, S.6
-
17
-
-
0037256945
-
Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects
-
Storti S, Vittorini S, Iascone MR, Sacchelli M, Collavoli A, Ripoli A, et al. Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin Chem Lab Med 2003;41:276-80.
-
(2003)
Clin Chem Lab Med
, vol.41
, pp. 276-280
-
-
Storti, S.1
Vittorini, S.2
Iascone, M.R.3
Sacchelli, M.4
Collavoli, A.5
Ripoli, A.6
-
18
-
-
0035064154
-
Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations
-
Wenstrom KD, Johanning GL, Johnston KE, DuBard M. Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. Am J Obstet Gynecol 2001;184:806-17.
-
(2001)
Am J Obstet Gynecol
, vol.184
, pp. 806-817
-
-
Wenstrom, K.D.1
Johanning, G.L.2
Johnston, K.E.3
DuBard, M.4
-
19
-
-
13744256916
-
Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism
-
Hobbs C, Cleves MA, Melnyk S, Zhao W, James JS. Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Am J Clin Nutr 2005;81:147-53.
-
(2005)
Am J Clin Nutr
, vol.81
, pp. 147-153
-
-
Hobbs, C.1
Cleves, M.A.2
Melnyk, S.3
Zhao, W.4
James, J.S.5
-
20
-
-
0033511283
-
Congenital heart defects and maternal derangement of homocysteine metabolism
-
Kapusta L, Haagmans ML, Steegers EA, Cuypers MH, Blom HJ, Eskes TK. Congenital heart defects and maternal derangement of homocysteine metabolism. J Pediatr 1999;135:773-4.
-
(1999)
J Pediatr
, vol.135
, pp. 773-774
-
-
Kapusta, L.1
Haagmans, M.L.2
Steegers, E.A.3
Cuypers, M.H.4
Blom, H.J.5
Eskes, T.K.6
-
21
-
-
13144282730
-
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
-
Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, et al. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci USA 1998;95:3059-64.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 3059-3064
-
-
Leclerc, D.1
Wilson, A.2
Dumas, R.3
Gafuik, C.4
Song, D.5
Watkins, D.6
-
22
-
-
0037069353
-
Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase
-
Olteanu H, Munson T, Banerjee R. Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase. Biochemistry 2002;41:13378-85.
-
(2002)
Biochemistry
, vol.41
, pp. 13378-13385
-
-
Olteanu, H.1
Munson, T.2
Banerjee, R.3
-
23
-
-
0035929601
-
Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation
-
Olteanu H, Banerjee R. Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation. J Biol Chem 2001;276:35558-63.
-
(2001)
J Biol Chem
, vol.276
, pp. 35558-35563
-
-
Olteanu, H.1
Banerjee, R.2
-
25
-
-
0024849613
-
Studies on methylmalonic acid in humans. II. Relationship between concentrations in serum and urinary excretion, and the correlation between serum cobalamin and accumulation of methylmalonic acid
-
Rasmussen K, Moelby L, Jensen MK. Studies on methylmalonic acid in humans. II. Relationship between concentrations in serum and urinary excretion, and the correlation between serum cobalamin and accumulation of methylmalonic acid. Clin Chem 1989;35:2277-80.
-
(1989)
Clin Chem
, vol.35
, pp. 2277-2280
-
-
Rasmussen, K.1
Moelby, L.2
Jensen, M.K.3
-
26
-
-
0041385695
-
Polymorphisms of the 5,10-methylenetetrahydrofolate and methionine synthase reductase genes as independent risk factors for spina bifida
-
Pietrzyk JJ, Bik-Multanowski M, Sanak M, Twardowska M. Polymorphisms of the 5,10-methylenetetrahydrofolate and methionine synthase reductase genes as independent risk factors for spina bifida. J Appl Genet 2003;44:111-3.
-
(2003)
J Appl Genet
, vol.44
, pp. 111-113
-
-
Pietrzyk, J.J.1
Bik-Multanowski, M.2
Sanak, M.3
Twardowska, M.4
-
27
-
-
0037341890
-
Homocysteine remethylation enzyme polymorphism and increased risk for neural tube defects
-
Zhu H, Wicker NJ, Shaw GM, Lammer EJ, Hendricks K, Suarez L, et al. Homocysteine remethylation enzyme polymorphism and increased risk for neural tube defects. Mol Genet Metab 2003;78:216-21.
-
(2003)
Mol Genet Metab
, vol.78
, pp. 216-221
-
-
Zhu, H.1
Wicker, N.J.2
Shaw, G.M.3
Lammer, E.J.4
Hendricks, K.5
Suarez, L.6
-
28
-
-
33750704194
-
The methionine synthase reductase 66A > G polymorphism is a maternal risk factor for spina bifida
-
In press
-
van der Linden IJ, den Heijer M, Afman LA, Gellekink HJ, Vermeulen SH, Kluijtmans LA, et al. The methionine synthase reductase 66A > G polymorphism is a maternal risk factor for spina bifida. J Mol Med 2006. In press.
-
(2006)
J Mol Med
-
-
Van Der Linden, I.J.1
Den Heijer, M.2
Afman, L.A.3
Gellekink, H.J.4
Vermeulen, S.H.5
Kluijtmans, L.A.6
-
29
-
-
20544466235
-
Total homocysteine and its predictors in Dutch children
-
van Beynum IM, den Heijer M, Thomas CM, Afman L, Oppenraay-van Emmerzaal D, Blom HJ. Total homocysteine and its predictors in Dutch children. Am J Clin Nutr 2005;81:1110-6.
-
(2005)
Am J Clin Nutr
, vol.81
, pp. 1110-1116
-
-
Van Beynum, I.M.1
Den Heijer, M.2
Thomas, C.M.3
Afman, L.4
Oppenraay-van Emmerzaal, D.5
Blom, H.J.6
-
30
-
-
0036845561
-
Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolate reductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis
-
Keijzer MB, den Heijer M, Blom HJ, Bos GM, Willems HP, Gerrits WB, et al. Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolate reductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost 2002;88:723-8.
-
(2002)
Thromb Haemost
, vol.88
, pp. 723-728
-
-
Keijzer, M.B.1
Den Heijer, M.2
Blom, H.J.3
Bos, G.M.4
Willems, H.P.5
Gerrits, W.B.6
-
31
-
-
0022653534
-
Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects
-
Besson WT, Kirby ML, van Mierop LH, Teabeaut JR II. Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects. Circulation 1986;73:360-4.
-
(1986)
Circulation
, vol.73
, pp. 360-364
-
-
Besson, W.T.1
Kirby, M.L.2
Van Mierop, L.H.3
Teabeaut II, J.R.4
-
32
-
-
0022203901
-
Characterization of conotruncal malformations following ablation of cardiac neural crest
-
Kirby ML, Turnage KL, Hays B. Characterization of conotruncal malformations following ablation of cardiac neural crest. Anat Rec 1985;213:87-93.
-
(1985)
Anat Rec
, vol.213
, pp. 87-93
-
-
Kirby, M.L.1
Turnage, K.L.2
Hays, B.3
-
33
-
-
0037162366
-
Shortened outflow tract leads to altered cardiac looping after neural crest ablation
-
Yelbuz TM, Waldo KL, Kumiski DH, Stadt HA, Wolfe RR, Leatherbury L, et al. Shortened outflow tract leads to altered cardiac looping after neural crest ablation. Circulation 2002;106:504-10.
-
(2002)
Circulation
, vol.106
, pp. 504-510
-
-
Yelbuz, T.M.1
Waldo, K.L.2
Kumiski, D.H.3
Stadt, H.A.4
Wolfe, R.R.5
Leatherbury, L.6
-
34
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
35
-
-
0033927120
-
Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism
-
Barbaux S, Kluijtmans LA, Whitehead AS. Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism. Clin Chem 2000;46:907-12.
-
(2000)
Clin Chem
, vol.46
, pp. 907-912
-
-
Barbaux, S.1
Kluijtmans, L.A.2
Whitehead, A.S.3
-
36
-
-
0034904708
-
The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations
-
Gaughan DJ, Kluijtmans LA, Barbaux S, McMaster D, Young IS, Yarnell JW, et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis 2001;157:451-6.
-
(2001)
Atherosclerosis
, vol.157
, pp. 451-456
-
-
Gaughan, D.J.1
Kluijtmans, L.A.2
Barbaux, S.3
McMaster, D.4
Young, I.S.5
Yarnell, J.W.6
-
37
-
-
0029075560
-
The transmission/disequilibrium test: History, subdivision, and admixture
-
Ewens WJ, Spielman RS. The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 1995;57:455-64.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 455-464
-
-
Ewens, W.J.1
Spielman, R.S.2
-
38
-
-
0027377799
-
Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
-
Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 506-516
-
-
Spielman, R.S.1
McGinnis, R.E.2
Ewens, W.J.3
-
39
-
-
0033365197
-
The "Thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother
-
Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, Burke H, et al. The "Thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet 1999;64:1045-55.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1045-1055
-
-
Shields, D.C.1
Kirke, P.N.2
Mills, J.L.3
Ramsbottom, D.4
Molloy, A.M.5
Burke, H.6
-
40
-
-
0037212592
-
Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study
-
Jacques PF, Bostom AG, Selhub J, Rich S, Curtis ER, Eckfeldt JH, et al. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis 2003;166:49-55.
-
(2003)
Atherosclerosis
, vol.166
, pp. 49-55
-
-
Jacques, P.F.1
Bostom, A.G.2
Selhub, J.3
Rich, S.4
Curtis, E.R.5
Eckfeldt, J.H.6
-
43
-
-
0032522996
-
Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: Aortic sac to ventricular septal closure
-
Waldo K, Miyagawa-Tomita S, Kumiski D, Kirby ML. Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: aortic sac to ventricular septal closure. Dev Biol 1988;196:129-44.
-
(1988)
Dev Biol
, vol.196
, pp. 129-144
-
-
Waldo, K.1
Miyagawa-Tomita, S.2
Kumiski, D.3
Kirby, M.L.4
-
44
-
-
0033559987
-
A subpopulation of apoptosis-prone cardiac neural crest cells targets to the venous pole: Multiple functions in heart development?
-
Poelmann RE, Gittenberger-de Groot AC. A subpopulation of apoptosis-prone cardiac neural crest cells targets to the venous pole: multiple functions in heart development? Dev Biol 1999;207:271-86.
-
(1999)
Dev Biol
, vol.207
, pp. 271-286
-
-
Poelmann, R.E.1
Gittenberger-de Groot, A.C.2
|