-
1
-
-
65349083724
-
Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview
-
Beaudin AE, Stover PJ. 2009. Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview. Birth Defects Res Part A Clin Mol Teratol 85: 274-284.
-
(2009)
Birth Defects Res Part A Clin Mol Teratol
, vol.85
, pp. 274-284
-
-
Beaudin, A.E.1
Stover, P.J.2
-
2
-
-
59849120166
-
Update on prevention of folic acid-preventable spina bifida and anencephaly
-
Bell KN, Oakley GP Jr. 2009. Update on prevention of folic acid-preventable spina bifida and anencephaly. Birth Defects Res A Clin Mol Teratol 85: 102-107.
-
(2009)
Birth Defects Res A Clin Mol Teratol
, vol.85
, pp. 102-107
-
-
Bell, K.N.1
Oakley Jr., G.P.2
-
3
-
-
0022553666
-
A data-based approach to diet questionnaire design and testing
-
Block G, Hartman AM, Dresser CM, Carroll MD, Gannon J, Gardner L. 1986. A data-based approach to diet questionnaire design and testing. Am J Epidemiol 124: 453-469.
-
(1986)
Am J Epidemiol
, vol.124
, pp. 453-469
-
-
Block, G.1
Hartman, A.M.2
Dresser, C.M.3
Carroll, M.D.4
Gannon, J.5
Gardner, L.6
-
4
-
-
0025645888
-
Validation of a self-administered diet history questionnaire using multiple diet records
-
Block G, Woods M, Potosky A, Clifford C. 1990. Validation of a self-administered diet history questionnaire using multiple diet records. J Clin Epidemiol 43: 1327-1335.
-
(1990)
J Clin Epidemiol
, vol.43
, pp. 1327-1335
-
-
Block, G.1
Woods, M.2
Potosky, A.3
Clifford, C.4
-
5
-
-
33750473409
-
Trends of selected malformations in relation to folic acid recommendations and fortification: An international assessment
-
Botto LD, Lisi A, Bower C, Canfield MA, Dattani N, De Vigan C, De Walle H, Erickson DJ, Halliday J, Irgens LM, et al. 2006. Trends of selected malformations in relation to folic acid recommendations and fortification: An international assessment. Birth Defects Res A Clin Mol Teratol 76: 693-705.
-
(2006)
Birth Defects Res A Clin Mol Teratol
, vol.76
, pp. 693-705
-
-
Botto, L.D.1
Lisi, A.2
Bower, C.3
Canfield, M.A.4
Dattani, N.5
De Vigan, C.6
De Walle, H.7
Erickson, D.J.8
Halliday, J.9
Irgens, L.M.10
-
6
-
-
18644379774
-
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group
-
Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL, Molloy AM, O'Leary VB, Parle-McDermott A, Scott JM, et al. 2002. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet 71: 1207-1215.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1207-1215
-
-
Brody, L.C.1
Conley, M.2
Cox, C.3
Kirke, P.N.4
McKeever, M.P.5
Mills, J.L.6
Molloy, A.M.7
O'Leary, V.B.8
Parle-McDermott, A.9
Scott, J.M.10
-
7
-
-
77955635150
-
Periconceptional nutrient intakes and risks of neural tube defects in California
-
Carmichael SL, Yang W, Shaw GM. 2010. Periconceptional nutrient intakes and risks of neural tube defects in California. Birth Defects Res A Clin Mol Teratol 88: 670-678.
-
(2010)
Birth Defects Res A Clin Mol Teratol
, vol.88
, pp. 670-678
-
-
Carmichael, S.L.1
Yang, W.2
Shaw, G.M.3
-
8
-
-
63249085436
-
Analysis of the MTHFD1 promoter and risk of neural tube defects
-
Carroll N, Pangilinan F, Molloy AM, Troendle J, Mills JL, Kirke PN, Brody LC, Scott JM, Parle-McDermott A. 2009. Analysis of the MTHFD1 promoter and risk of neural tube defects. Hum Genet 125: 247-256.
-
(2009)
Hum Genet
, vol.125
, pp. 247-256
-
-
Carroll, N.1
Pangilinan, F.2
Molloy, A.M.3
Troendle, J.4
Mills, J.L.5
Kirke, P.N.6
Brody, L.C.7
Scott, J.M.8
Parle-McDermott, A.9
-
9
-
-
59749093930
-
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects
-
Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, Richter A, Mackenzie RE, Rozen R. 2009. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat 30: 212-220.
-
(2009)
Hum Mutat
, vol.30
, pp. 212-220
-
-
Christensen, K.E.1
Rohlicek, C.V.2
Andelfinger, G.U.3
Michaud, J.4
Bigras, J.L.5
Richter, A.6
Mackenzie, R.E.7
Rozen, R.8
-
10
-
-
0027080461
-
Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
-
Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327: 1832-1835.
-
(1992)
N Engl J Med
, vol.327
, pp. 1832-1835
-
-
Czeizel, A.E.1
Dudas, I.2
-
11
-
-
31544464705
-
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk
-
De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V. 2006. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. J Hum Genet 51: 98-103.
-
(2006)
J Hum Genet
, vol.51
, pp. 98-103
-
-
De Marco, P.1
Merello, E.2
Calevo, M.G.3
Mascelli, S.4
Raso, A.5
Cama, A.6
Capra, V.7
-
12
-
-
20444424616
-
Human neural tube defects: Developmental biology, epidemiology, and genetics
-
Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. 2005. Human neural tube defects: Developmental biology, epidemiology, and genetics. Neurotoxicol Teratol 27: 515-524.
-
(2005)
Neurotoxicol Teratol
, vol.27
, pp. 515-524
-
-
Detrait, E.R.1
George, T.M.2
Etchevers, H.C.3
Gilbert, J.R.4
Vekemans, M.5
Speer, M.C.6
-
13
-
-
67649870480
-
Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects
-
Doudney K, Grinham J, Whittaker J, Lynch SA, Thompson D, Moore GE, Copp AJ, Greene ND, Stanier P. 2009. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. Am J Med Genet Part A 149A: 1585-1589.
-
(2009)
Am J Med Genet Part A
, vol.149
, pp. 1585-1589
-
-
Doudney, K.1
Grinham, J.2
Whittaker, J.3
Lynch, S.A.4
Thompson, D.5
Moore, G.E.6
Copp, A.J.7
Greene, N.D.8
Stanier, P.9
-
14
-
-
62949117622
-
An association study of 45 folate-related genes in spina bifida: involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)
-
Franke B, Vermeulen S, Steegers-Theunissen RPM, Coenen MJ, Schijvenaars M, Scheffer H, den Heijer M, Blom HJ. 2009. An association study of 45 folate-related genes in spina bifida: involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Birth Defects Res Part A Clin Mol Teratol 85: 216-226.
-
(2009)
Birth Defects Res Part A Clin Mol Teratol
, vol.85
, pp. 216-226
-
-
Franke, B.1
Vermeulen, S.2
Steegers-Theunissen, R.P.M.3
Coenen, M.J.4
Schijvenaars, M.5
Scheffer, H.6
den Heijer, M.7
Blom, H.J.8
-
16
-
-
0034968527
-
Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?
-
Heil SG, Van der Put NM, Waas ET, den Heijer M, Trijbels FJ, Blom HJ. 2001. Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects? Mol Genet Metab 73: 164-172.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 164-172
-
-
Heil, S.G.1
Van der Put, N.M.2
Waas, E.T.3
den Heijer, M.4
Trijbels, F.J.5
Blom, H.J.6
-
17
-
-
8744223089
-
Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections
-
Konrad C, Muller GA, Langer C, Kuhlenbaumer G, Berger K, Nabavi DG, Dziewas R, Stogbauer F, Ringelstein EB, Junker R. 2004. Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. J Neurol 251: 1242-1248.
-
(2004)
J Neurol
, vol.251
, pp. 1242-1248
-
-
Konrad, C.1
Muller, G.A.2
Langer, C.3
Kuhlenbaumer, G.4
Berger, K.5
Nabavi, D.G.6
Dziewas, R.7
Stogbauer, F.8
Ringelstein, E.B.9
Junker, R.10
-
18
-
-
70349322403
-
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
-
Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. 2009. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol 201: 394.e1-394.e11.
-
(2009)
Am J Obstet Gynecol
, vol.201
-
-
Martinez, C.A.1
Northrup, H.2
Lin, J.I.3
Morrison, A.C.4
Fletcher, J.M.5
Tyerman, G.H.6
Au, K.S.7
-
19
-
-
0030938599
-
Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium
-
Mitchell LE. 1997. Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium. Am J Hum Genet 60: 1006-1007.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1006-1007
-
-
Mitchell, L.E.1
-
20
-
-
0025863475
-
Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group
-
MRC.
-
MRC. 1991. Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet 338: 131-137.
-
(1991)
Lancet
, vol.338
, pp. 131-137
-
-
-
21
-
-
33744460203
-
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population
-
Parle-McDermott A, Kirke PN, Mills JL, Molloy AM, Cox C, O'Leary VB, Pangilinan F, Conley M, Cleary L, Brody LC, et al. 2006. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur J Hum Genet 14: 768-772.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 768-772
-
-
Parle-McDermott, A.1
Kirke, P.N.2
Mills, J.L.3
Molloy, A.M.4
Cox, C.5
O'Leary, V.B.6
Pangilinan, F.7
Conley, M.8
Cleary, L.9
Brody, L.C.10
-
22
-
-
1842418757
-
Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy
-
Relton CL, Wilding CS, Laffling AJ, Jonas PA, Burgess T, Binks K, Tawn EJ, Burn J. 2004. Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Mol Genet Metab 81: 273-281.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 273-281
-
-
Relton, C.L.1
Wilding, C.S.2
Laffling, A.J.3
Jonas, P.A.4
Burgess, T.5
Binks, K.6
Tawn, E.J.7
Burn, J.8
-
23
-
-
0027526217
-
Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
-
Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. 1993. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2: 159-163.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 159-163
-
-
Richards, B.1
Skoletsky, J.2
Shuber, A.P.3
Balfour, R.4
Stern, R.C.5
Dorkin, H.L.6
Parad, R.B.7
Witt, D.8
Klinger, K.W.9
-
24
-
-
0027479661
-
Quality-control of birth defect registry data-A case study
-
Schulman J, Hahn JA. 1993. Quality-control of birth defect registry data-A case study. Public Health Rep 108: 91-98.
-
(1993)
Public Health Rep
, vol.108
, pp. 91-98
-
-
Schulman, J.1
Hahn, J.A.2
-
25
-
-
0037083014
-
Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida
-
Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH. 2002. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 108: 1-6.
-
(2002)
Am J Med Genet
, vol.108
, pp. 1-6
-
-
Shaw, G.M.1
Lammer, E.J.2
Zhu, H.3
Baker, M.W.4
Neri, E.5
Finnell, R.H.6
-
26
-
-
67649209221
-
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
-
Shaw GM, Lu W, Zhu HP, Yang W, Briggs FBS, Carmichael SL, Barcellos LF, Lammer EJ, Finnell RH. 2009. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet 10: 11.
-
(2009)
BMC Med Genet
, vol.10
, pp. 11
-
-
Shaw, G.M.1
Lu, W.2
Zhu, H.P.3
Yang, W.4
Briggs, F.B.S.5
Carmichael, S.L.6
Barcellos, L.F.7
Lammer, E.J.8
Finnell, R.H.9
-
27
-
-
0032125774
-
Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida
-
Shaw GM, Rozen R, Finnell RH, Wasserman CR, Lammer EJ. 1998. Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol 148: 30-37.
-
(1998)
Am J Epidemiol
, vol.148
, pp. 30-37
-
-
Shaw, G.M.1
Rozen, R.2
Finnell, R.H.3
Wasserman, C.R.4
Lammer, E.J.5
-
28
-
-
0036765747
-
Thymidylate synthase: A novel genetic determinant of plasma homocysteine and folate levels
-
Trinh BN, Ong CN, Coetzee GA, Yu MC, Laird PW. 2002. Thymidylate synthase: A novel genetic determinant of plasma homocysteine and folate levels. Hum Genet 111: 299-302.
-
(2002)
Hum Genet
, vol.111
, pp. 299-302
-
-
Trinh, B.N.1
Ong, C.N.2
Coetzee, G.A.3
Yu, M.C.4
Laird, P.W.5
-
29
-
-
0037096858
-
Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas
-
Ulrich CM, Bigler J, Bostick R, Fosdick L, Potter JD. 2002. Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas. Cancer Res 62: 3361-3364.
-
(2002)
Cancer Res
, vol.62
, pp. 3361-3364
-
-
Ulrich, C.M.1
Bigler, J.2
Bostick, R.3
Fosdick, L.4
Potter, J.D.5
-
30
-
-
36248929438
-
The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population
-
van der Linden IJ, Heil SG, Kouwenberg IC, den Heijer M, Blom HJ. 2007. The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population. Clin Genet 72: 599-600.
-
(2007)
Clin Genet
, vol.72
, pp. 599-600
-
-
van der Linden, I.J.1
Heil, S.G.2
Kouwenberg, I.C.3
den Heijer, M.4
Blom, H.J.5
-
31
-
-
0141925974
-
Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects
-
Volcik KA, Shaw GM, Lammer EJ, Zhu H, Finnell RH. 2003a. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res Part A Clin Mol Teratol 67: 154-157.
-
(2003)
Birth Defects Res Part A Clin Mol Teratol
, vol.67
, pp. 154-157
-
-
Volcik, K.A.1
Shaw, G.M.2
Lammer, E.J.3
Zhu, H.4
Finnell, R.H.5
-
32
-
-
0344875624
-
Associations between polymorphisms within the thymidylate synthase gene and spina bifida
-
Volcik KA, Shaw GM, Zhu H, Lammer EJ, Laurent C, Finnell RH. 2003b. Associations between polymorphisms within the thymidylate synthase gene and spina bifida. Birth Defects Res A Clin Mol Teratol 67: 924-928.
-
(2003)
Birth Defects Res A Clin Mol Teratol
, vol.67
, pp. 924-928
-
-
Volcik, K.A.1
Shaw, G.M.2
Zhu, H.3
Lammer, E.J.4
Laurent, C.5
Finnell, R.H.6
-
33
-
-
47249166179
-
-
Georgetown, TX: Landes Bioscience, Eurekah.com.
-
Vollset SE, Botto LD. 2005. Neural tube defects, other congenital malformations and single nucleotide polymorphisms in the 5, 10 methylenetetrahydrofolate reductase (MTHFR) gene. MTHFR polymorphisms and disease. Georgetown, TX: Landes Bioscience, Eurekah.com. p 210.
-
(2005)
Neural tube defects, other congenital malformations and single nucleotide polymorphisms in the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene. MTHFR polymorphisms and disease
-
-
Vollset, S.E.1
Botto, L.D.2
-
34
-
-
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 CR, Wilcox AJ, Lie RT. 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
-
35
-
-
0032211487
-
Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads.
-
Wilcox AJ, Weinberg CR, Lie RT. 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
-
36
-
-
3242886458
-
Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom
-
Wilding CS, Relton CL, Sutton MJ, Jonas PA, Lynch SA, Tawn EJ, Burn J. 2004. Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom. Birth Defects Res Part A Clin Mol Teratol 70: 483-485.
-
(2004)
Birth Defects Res Part A Clin Mol Teratol
, vol.70
, pp. 483-485
-
-
Wilding, C.S.1
Relton, C.L.2
Sutton, M.J.3
Jonas, P.A.4
Lynch, S.A.5
Tawn, E.J.6
Burn, J.7
-
37
-
-
34547101719
-
Evidence for small ubiquitin-like modifier-dependent nuclear import of the thymidylate biosynthesis pathway
-
Woeller CF, Anderson DD, Szebenyi DM, Stover PJ. 2007. Evidence for small ubiquitin-like modifier-dependent nuclear import of the thymidylate biosynthesis pathway. J Biol Chem 282: 17623-17631.
-
(2007)
J Biol Chem
, vol.282
, pp. 17623-17631
-
-
Woeller, C.F.1
Anderson, D.D.2
Szebenyi, D.M.3
Stover, P.J.4
|