메뉴 건너뛰기




Volumn 47, Issue 2, 2008, Pages 141-150

Syndromes, disorders and maternal risk factors associated with neural tube defects (IV)

Author keywords

Fetal; Maternal; Neural tube defects; Risk factors

Indexed keywords

AUTOANTIBODY; BETAINE HOMOCYSTEINE METHYLTRANSFERASE; CLOMIFENE; CYANOCOBALAMIN; DIHYDROFOLATE REDUCTASE; FOLATE RECEPTOR; FOLIC ACID; GLYCINE HYDROXYMETHYLTRANSFERASE; METHYLENETETRAHYDROFOLIC ACID; SUMO 1 PROTEIN; TERATOGENIC AGENT; THYMIDINE PHOSPHATE; THYMIDYLATE SYNTHASE;

EID: 48949118169     PISSN: 10284559     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1028-4559(08)60071-6     Document Type: Review
Times cited : (20)

References (131)
  • 2
    • 36749026330 scopus 로고    scopus 로고
    • Ovarian cysts, clomiphene therapy, and the risk of neural tube defects
    • Bánhidy F, Acs N, Czeizel AE. Ovarian cysts, clomiphene therapy, and the risk of neural tube defects. Int J Gynaecol Obstet 2008;100:86-8.
    • (2008) Int J Gynaecol Obstet , vol.100 , pp. 86-88
    • Bánhidy, F.1    Acs, N.2    Czeizel, A.E.3
  • 3
    • 0023515495 scopus 로고
    • Congenital malformations after in-vitro fertilisation
    • Lancaster PAL. Congenital malformations after in-vitro fertilisation. Lancet 1987;330:1392-3.
    • (1987) Lancet , vol.330 , pp. 1392-1393
    • Lancaster, P.A.L.1
  • 4
    • 0343677783 scopus 로고
    • Ovulation induction and neural tube defects
    • Cornel MC, Ten Kate LP, Dukes MNG, et al. Ovulation induction and neural tube defects. Lancet 1989;333:1386.
    • (1989) Lancet , vol.333 , pp. 1386
    • Cornel, M.C.1    Ten Kate, L.P.2    Dukes, M.N.G.3
  • 5
    • 0024790894 scopus 로고
    • Ovulation induction, in-vitro fertilisation, and neural tube defects
    • Cornel MC, Ten Kate LP, Te Meerman GJ. Ovulation induction, in-vitro fertilisation, and neural tube defects. Lancet 1989;334:1530.
    • (1989) Lancet , vol.334 , pp. 1530
    • Cornel, M.C.1    Ten Kate, L.P.2    Te Meerman, G.J.3
  • 6
    • 0024443137 scopus 로고
    • Ovulation induction and neural tube defects
    • Cuckle HS, Wald NJ. Ovulation induction and neural tube defects. Lancet 1989;334:1281.
    • (1989) Lancet , vol.334 , pp. 1281
    • Cuckle, H.S.1    Wald, N.J.2
  • 7
    • 0024970967 scopus 로고
    • Ovulation induction and neural tube defects
    • Czeizel AE. Ovulation induction and neural tube defects. Lancet 1989;334:167.
    • (1989) Lancet , vol.334 , pp. 167
    • Czeizel, A.E.1
  • 8
    • 0026366228 scopus 로고
    • Ovulation induction and neural tube defects: A registry study
    • Robert E, Pradat E, Laumon B. Ovulation induction and neural tube defects: a registry study. Reprod Toxicol 1991; 5:83-4.
    • (1991) Reprod Toxicol , vol.5 , pp. 83-84
    • Robert, E.1    Pradat, E.2    Laumon, B.3
  • 9
    • 3242892579 scopus 로고    scopus 로고
    • The use of drugs in mothers of offspring with neural-tube defects
    • Medveczky E, Puhó E, Czeizel EA. The use of drugs in mothers of offspring with neural-tube defects. Pharmacoepidemiol Drug Saf 2004;13:443-55.
    • (2004) Pharmacoepidemiol Drug Saf , vol.13 , pp. 443-455
    • Medveczky, E.1    Puhó, E.2    Czeizel, E.A.3
  • 10
    • 0025311668 scopus 로고
    • Risk of neural tube defects in relation to maternal fertility and fertility drug use
    • Mills JL, Simpson JL, Rhoads GG, et al. Risk of neural tube defects in relation to maternal fertility and fertility drug use. Lancet 1990;336:103-4.
    • (1990) Lancet , vol.336 , pp. 103-104
    • Mills, J.L.1    Simpson, J.L.2    Rhoads, G.G.3
  • 11
    • 0026485335 scopus 로고
    • Neural tube defects after infertility treatment: A review
    • Van Loon K, Besseghir K, Eshkol A. Neural tube defects after infertility treatment: a review. Fertil Steril 1992;58:875-84.
    • (1992) Fertil Steril , vol.58 , pp. 875-884
    • Van Loon, K.1    Besseghir, K.2    Eshkol, A.3
  • 12
    • 0028793546 scopus 로고
    • Clomiphene citrate and neural tube defects: A pooled analysis of controlled epidemiologic studies and recommendations for future studies
    • Greenland S, Ackerman DL. Clomiphene citrate and neural tube defects: a pooled analysis of controlled epidemiologic studies and recommendations for future studies. Fertil Steril 1995;64:936-41.
    • (1995) Fertil Steril , vol.64 , pp. 936-941
    • Greenland, S.1    Ackerman, D.L.2
  • 13
    • 0036709902 scopus 로고    scopus 로고
    • Neonatal outcome in pregnancies from ovarian stimulation
    • Källén B, Olausson PO, Nygren KG. Neonatal outcome in pregnancies from ovarian stimulation. Obstet Gynecol 2002; 100:414-9.
    • (2002) Obstet Gynecol , vol.100 , pp. 414-419
    • Källén, B.1    Olausson, P.O.2    Nygren, K.G.3
  • 14
    • 0037035126 scopus 로고    scopus 로고
    • The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization
    • Hansen M, Kurinczuk JJ, Bower C, Webb S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002;346:725-30.
    • (2002) N Engl J Med , vol.346 , pp. 725-730
    • Hansen, M.1    Kurinczuk, J.J.2    Bower, C.3    Webb, S.4
  • 15
    • 2542539733 scopus 로고    scopus 로고
    • The risk of birth defects in children born after assisted reproductive technologies
    • Kurinczuk JJ, Hansen M, Bower C. The risk of birth defects in children born after assisted reproductive technologies. Curr Opin Obstet Gynecol 2004;16:201-9.
    • (2004) Curr Opin Obstet Gynecol , vol.16 , pp. 201-209
    • Kurinczuk, J.J.1    Hansen, M.2    Bower, C.3
  • 16
  • 18
    • 0025863475 scopus 로고
    • 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
  • 19
    • 0027080461 scopus 로고
    • Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
    • Czeizel AE, Dudás 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    Dudás, I.2
  • 20
    • 0029935851 scopus 로고    scopus 로고
    • Folic acid and prevention of birth defects
    • Czeizel AE. Folic acid and prevention of birth defects. JAMA 1996;275:1635-66.
    • (1996) JAMA , vol.275 , pp. 1635-1666
    • Czeizel, A.E.1
  • 22
    • 84981812991 scopus 로고
    • The role of folic acid in pregnancy; with particular reference to anaemia, abruption and abortion
    • Hibbard BM. The role of folic acid in pregnancy; with particular reference to anaemia, abruption and abortion. J Obstet Gynaecol Br Commonw 1964;71:529-42.
    • (1964) J Obstet Gynaecol Br Commonw , vol.71 , pp. 529-542
    • Hibbard, B.M.1
  • 23
    • 50549208782 scopus 로고
    • Folic acid metabolism and human embryopathy
    • Hibbard ED, Smithells RW. Folic acid metabolism and human embryopathy. Lancet 1965;285:1254.
    • (1965) Lancet , vol.285 , pp. 1254
    • Hibbard, E.D.1    Smithells, R.W.2
  • 24
    • 0018922950 scopus 로고
    • Possible prevention of neural-tube defects by periconceptional vitamin supplementation
    • Smithells RW, Sheppard S, Schorah CJ, et al. Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet 1980;315:339-40.
    • (1980) Lancet , vol.315 , pp. 339-340
    • Smithells, R.W.1    Sheppard, S.2    Schorah, C.J.3
  • 25
    • 0019476413 scopus 로고
    • Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects
    • Laurence KM, James N, Miller MH,Tennant GB, Campbell H. Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects. Br Med J (Clin Res Ed) 1981 ;282:1509-11.
    • (1981) Br Med J (Clin Res Ed) , vol.282 , pp. 1509-1511
    • Laurence, K.M.1    James, N.2    Miller, M.H.3    Tennant, G.B.4    Campbell, H.5
  • 26
    • 0023791890 scopus 로고
    • Periconceptional use of multivitamins and the occurrence of neural tube defects
    • Mulinare J, Cordero JF, Erickson JD, Berry RJ. Periconceptional use of multivitamins and the occurrence of neural tube defects. JAMA 1988;260:3141-5.
    • (1988) JAMA , vol.260 , pp. 3141-3145
    • Mulinare, J.1    Cordero, J.F.2    Erickson, J.D.3    Berry, R.J.4
  • 27
    • 0024385912 scopus 로고
    • Dietary folate as a risk factor for neural-tube defects: Evidence from a case-control study in Western Australia
    • Bower C, Stanley FJ. Dietary folate as a risk factor for neural-tube defects: evidence from a case-control study in Western Australia. Med J Aust 1989;150:613-9.
    • (1989) Med J Aust , vol.150 , pp. 613-619
    • Bower, C.1    Stanley, F.J.2
  • 28
    • 0024389016 scopus 로고
    • Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects
    • Milunsky A, Jick H, Jick SS, Bruell CL, MacLaughlin DS, Rothman KJ, WillettW. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA 1989;262:2847-52.
    • (1989) JAMA , vol.262 , pp. 2847-2852
    • Milunsky, A.1    Jick, H.2    Jick, S.S.3    Bruell, C.L.4    MacLaughlin, D.S.5    Rothman, K.J.6    WillettW7
  • 29
    • 0026413973 scopus 로고
    • Use of folic acid for prevention of spina bifida and other neural tube defects: 1983-1991
    • Centers for Disease Control and Prevention
    • Centers for Disease Control and Prevention. Use of folic acid for prevention of spina bifida and other neural tube defects: 1983-1991. MMWR Morb Mortal Wkly Rep 1991 ;40:513-6.
    • (1991) MMWR Morb Mortal Wkly Rep , vol.40 , pp. 513-516
  • 30
    • 0027117866 scopus 로고
    • Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects
    • Centers for Disease Control and Prevention
    • Centers for Disease Control and Prevention. Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Recomm Rep 1992;41:1-7.
    • (1992) MMWR Recomm Rep , vol.41 , pp. 1-7
  • 31
    • 0001716641 scopus 로고    scopus 로고
    • Food standards: Amendment of standards of identity for enriched grain products to require addition of folic acid
    • and Drug Administration
    • US Food and Drug Administration. Food standards: amendment of standards of identity for enriched grain products to require addition of folic acid. Fed Regist 1996; 61:8781-97.
    • (1996) Fed Regist , vol.61 , pp. 8781-8797
    • Food, U.S.1
  • 32
    • 0027518951 scopus 로고
    • Periconceptional folic acid exposure and risk of occurrent neural tube defects
    • Werler MM, Shapiro S, Mitchell AA. Periconceptional folic acid exposure and risk of occurrent neural tube defects. JAMA 1993;269:1257-61.
    • (1993) JAMA , vol.269 , pp. 1257-1261
    • Werler, M.M.1    Shapiro, S.2    Mitchell, A.A.3
  • 33
    • 0028962102 scopus 로고
    • Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects
    • Shaw GM, Schaffer D, Velie EM, Morland K, Harris JA. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology 1995;6:219-26.
    • (1995) Epidemiology , vol.6 , pp. 219-226
    • Shaw, G.M.1    Schaffer, D.2    Velie, E.M.3    Morland, K.4    Harris, J.A.5
  • 34
    • 0033547440 scopus 로고    scopus 로고
    • Prevention of neural-tube defects with folic acid in China
    • Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. N Engl J Med 1999;341: 1485-90.
    • (1999) N Engl J Med , vol.341 , pp. 1485-1490
    • Berry, R.J.1    Li, Z.2    Erickson, J.D.3
  • 35
    • 0035919139 scopus 로고    scopus 로고
    • Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects
    • Honein MA, Paulozzi LJ, Mathews TJ, Erickson JD, Wong LY. Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. JAMA 2001;285: 2981-6.
    • (2001) JAMA , vol.285 , pp. 2981-2986
    • Honein, M.A.1    Paulozzi, L.J.2    Mathews, T.J.3    Erickson, J.D.4    Wong, L.Y.5
  • 36
    • 0037072702 scopus 로고    scopus 로고
    • Folic acid and prevention of spina bifida and anencephaly: 10 years after the U.S. Public Health Service recommendation
    • Erickson JD. Folic acid and prevention of spina bifida and anencephaly: 10 years after the U.S. Public Health Service recommendation. MMWR Recomm Rep 2002;51:1-3.
    • (2002) MMWR Recomm Rep , vol.51 , pp. 1-3
    • Erickson, J.D.1
  • 37
    • 0036057549 scopus 로고    scopus 로고
    • Incidence of open neural tube defects in Nova Scotia after folic acid fortification
    • Persad VL, Van den Hof MC, Dubé JM, Zimmer P. Incidence of open neural tube defects in Nova Scotia after folic acid fortification. CMAJ 2002;167:241-5.
    • (2002) CMAJ , vol.167 , pp. 241-245
    • Persad, V.L.1    Van den Hof, M.C.2    Dubé, J.M.3    Zimmer, P.4
  • 38
    • 0037153743 scopus 로고    scopus 로고
    • Association of neural tube defects and folic acid food fortification in Canada
    • Ray JG, Meier C, Vermeulen MJ, Boss S, Wyatt PR, Cole DE. Association of neural tube defects and folic acid food fortification in Canada. Lancet 2002;360:2047-8.
    • (2002) Lancet , vol.360 , pp. 2047-2048
    • Ray, J.G.1    Meier, C.2    Vermeulen, M.J.3    Boss, S.4    Wyatt, P.R.5    Cole, D.E.6
  • 39
    • 0242426674 scopus 로고    scopus 로고
    • Latin American Collaborative Study of Congenital Malformations (ECLAMC). Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America
    • Castilla EE, Orioli IM, López-Camelo JS, Dutra Mda G, Nazer-Herrera J; Latin American Collaborative Study of Congenital Malformations (ECLAMC). Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America. Am J Med Genet A 2003;123:123-8.
    • (2003) Am J Med Genet A , vol.123 , pp. 123-128
    • Castilla, E.E.1    Orioli, I.M.2    López-Camelo, J.S.3    Dutra Mda, G.4    Nazer-Herrera, J.5
  • 40
    • 0344443785 scopus 로고    scopus 로고
    • De Wals P, Rusen ID, Lee NS, Morin P, Niyonsenga T. Trend in prevalence of neural tube defects in Quebec. Birth Defects Res A Clin Mol Teratol 2003;67:919-23.
    • De Wals P, Rusen ID, Lee NS, Morin P, Niyonsenga T. Trend in prevalence of neural tube defects in Quebec. Birth Defects Res A Clin Mol Teratol 2003;67:919-23.
  • 41
    • 34447342598 scopus 로고    scopus 로고
    • Reduction in neural-tube defects after folic acid fortification in Canada
    • De Wals P, Tairou F, Van Allen Ml, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med 2007;357:135-42.
    • (2007) N Engl J Med , vol.357 , pp. 135-142
    • De Wals, P.1    Tairou, F.2    Van Allen, M.3
  • 42
    • 2342631856 scopus 로고    scopus 로고
    • Spina bifida and anencephaly before and after folic acid mandate: United States, 1995-1996 and 1999-2000
    • Centers for Disease Control and Prevention
    • Centers for Disease Control and Prevention. Spina bifida and anencephaly before and after folic acid mandate: United States, 1995-1996 and 1999-2000. MMWR Morb Mortal Wkly Rep 2004;53:362-5.
    • (2004) MMWR Morb Mortal Wkly Rep , vol.53 , pp. 362-365
  • 43
    • 3142738068 scopus 로고    scopus 로고
    • The Costa Rican experience: Reduction of neural tube defects following food fortification programs
    • Chen LT, Rivera MA. The Costa Rican experience: reduction of neural tube defects following food fortification programs. Nutr Rev 2004;62:S40-3.
    • (2004) Nutr Rev , vol.62
    • Chen, L.T.1    Rivera, M.A.2
  • 44
    • 10044288187 scopus 로고    scopus 로고
    • Neural tube defect rates before and after food fortification with folic acid
    • Mills JL, Signore C. Neural tube defect rates before and after food fortification with folic acid. Birth Defects Res A Clin Mol Teratol 2004;70:844-5.
    • (2004) Birth Defects Res A Clin Mol Teratol , vol.70 , pp. 844-845
    • Mills, J.L.1    Signore, C.2
  • 45
    • 20044394752 scopus 로고    scopus 로고
    • Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile
    • Lepez-Camelo JS, Orioli IM, da Graça Dutra M, et al. Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile. Am J Med Genet A 2005;135:120-5.
    • (2005) Am J Med Genet A , vol.135 , pp. 120-125
    • Lepez-Camelo, J.S.1    Orioli, I.M.2    da Graça Dutra, M.3
  • 46
    • 18344373679 scopus 로고    scopus 로고
    • Professional Practice and Guidelines Committee, American College of Medical Genetics. Folic acid and neural tube defects
    • Toriello HV; Professional Practice and Guidelines Committee, American College of Medical Genetics. Folic acid and neural tube defects. Genet Med 2005;7:283-4.
    • (2005) Genet Med , vol.7 , pp. 283-284
    • Toriello, H.V.1
  • 48
    • 37549037837 scopus 로고    scopus 로고
    • Will increasing folic acid in fortified grain products further reduce neural tube defects without causing harm?: Consideration of the evidence
    • Johnston RB Jr. Will increasing folic acid in fortified grain products further reduce neural tube defects without causing harm?: consideration of the evidence. Pediatr Res 2008; 63:2-8.
    • (2008) Pediatr Res , vol.63 , pp. 2-8
    • Johnston Jr., R.B.1
  • 49
    • 35148814356 scopus 로고    scopus 로고
    • Folic acid fortification: Is masking of vitamin B-12 deficiency what we should really worry about?
    • Brouwer I, Verhoef P. Folic acid fortification: is masking of vitamin B-12 deficiency what we should really worry about? Am J Clin Nutr 2007;86:897-8.
    • (2007) Am J Clin Nutr , vol.86 , pp. 897-898
    • Brouwer, I.1    Verhoef, P.2
  • 50
    • 38449097796 scopus 로고    scopus 로고
    • Folic acid fortification and supplementation: Good for some but not so good for others
    • Kim Yl. Folic acid fortification and supplementation: good for some but not so good for others. Nutr Rev 2007;65: 504-11.
    • (2007) Nutr Rev , vol.65 , pp. 504-511
    • Kim, Y.1
  • 51
    • 33846039266 scopus 로고    scopus 로고
    • Folic acid fortification: The good, the bad, and the puzzle of vitamin B-12
    • Smith AD. Folic acid fortification: the good, the bad, and the puzzle of vitamin B-12. Am J Clin Nutr 2007;85:3-5.
    • (2007) Am J Clin Nutr , vol.85 , pp. 3-5
    • Smith, A.D.1
  • 52
    • 36849017240 scopus 로고    scopus 로고
    • Food fortification with folic acid: Has the other shoe dropped?
    • Solomons NW. Food fortification with folic acid: has the other shoe dropped? Nutr Rev 2007;65:512-5.
    • (2007) Nutr Rev , vol.65 , pp. 512-515
    • Solomons, N.W.1
  • 53
  • 54
    • 0027145847 scopus 로고
    • Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects
    • Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. QJ Med 1993;86:703-8.
    • (1993) QJ Med , vol.86 , pp. 703-708
    • Kirke, P.N.1    Molloy, A.M.2    Daly, L.E.3    Burke, H.4    Weir, D.G.5    Scott, J.M.6
  • 55
    • 0029145250 scopus 로고
    • Elevated mid-trimester serum methylmalonic acid levels as a risk factor for neural tube defects
    • Adams MJ Jr, Khoury MJ, Scanlon KS, et al. Elevated mid-trimester serum methylmalonic acid levels as a risk factor for neural tube defects. Teratology 1995;51:311-7.
    • (1995) Teratology , vol.51 , pp. 311-317
    • Adams Jr, M.J.1    Khoury, M.J.2    Scanlon, K.S.3
  • 56
    • 0030864413 scopus 로고    scopus 로고
    • Altered folate and vitamin B12 metabolism in families with spina bifida offspring
    • van der Put NMJ, Thomas CM, Eskes TK, et al. Altered folate and vitamin B12 metabolism in families with spina bifida offspring. QJM 1997;90:505-10.
    • (1997) QJM , vol.90 , pp. 505-510
    • van der Put, N.M.J.1    Thomas, C.M.2    Eskes, T.K.3
  • 57
    • 0032856882 scopus 로고    scopus 로고
    • A common variant in methionine synthase reductase combined with low cobal-amin (vitamin B12) increases risk for spina bifida
    • Wilson A, Platt R, Wu Q, et al. A common variant in methionine synthase reductase combined with low cobal-amin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 1999;67:317-23.
    • (1999) Mol Genet Metab , vol.67 , pp. 317-323
    • Wilson, A.1    Platt, R.2    Wu, Q.3
  • 58
    • 0035079052 scopus 로고    scopus 로고
    • Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects
    • Afman LA, van der Put NMJ, Thomas CM, Trijbels JM, Blom HJ. Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects. QJM 2001;94: 159-66.
    • (2001) QJM , vol.94 , pp. 159-166
    • Afman, L.A.1    van der Put, N.M.J.2    Thomas, C.M.3    Trijbels, J.M.4    Blom, H.J.5
  • 59
    • 0344837893 scopus 로고    scopus 로고
    • Vitamin B12 insufficiency and the risk of fetal neural tube defects
    • Ray JG, Blom HJ. Vitamin B12 insufficiency and the risk of fetal neural tube defects. QJM 2003;96:289-95.
    • (2003) QJM , vol.96 , pp. 289-295
    • Ray, J.G.1    Blom, H.J.2
  • 60
    • 0037306954 scopus 로고    scopus 로고
    • Maternal serum B12 levels and risk for neural tube defects in a Texas-Mexico border population
    • Suarez L, Hendricks K, Felkner M, Gunter E. Maternal serum B12 levels and risk for neural tube defects in a Texas-Mexico border population. Ann Epidemiol 2003;13:81-8.
    • (2003) Ann Epidemiol , vol.13 , pp. 81-88
    • Suarez, L.1    Hendricks, K.2    Felkner, M.3    Gunter, E.4
  • 62
    • 33847628734 scopus 로고    scopus 로고
    • Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients
    • Gaber KR, Farag MK, Soliman SE, El-Bassyouni HT, El-Kamah G. Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients. Clin Lab 2007;53:69-75.
    • (2007) Clin Lab , vol.53 , pp. 69-75
    • Gaber, K.R.1    Farag, M.K.2    Soliman, S.E.3    El-Bassyouni, H.T.4    El-Kamah, G.5
  • 63
    • 34247218125 scopus 로고    scopus 로고
    • Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population
    • Ray JG, Wyatt PR, Thompson MD, et al. Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population. Epidemiology 2007;18:362-6.
    • (2007) Epidemiology , vol.18 , pp. 362-366
    • Ray, J.G.1    Wyatt, P.R.2    Thompson, M.D.3
  • 64
    • 44849084799 scopus 로고    scopus 로고
    • High rate of maternal vitamin B12 deficiency nearly a decade after Canadian folic acid flour fortification
    • doi: 10.1093/qjmed/hcn031
    • Ray JG, Goodman J, O'Mahoney PR, Mamdani MM, Jiang D. High rate of maternal vitamin B12 deficiency nearly a decade after Canadian folic acid flour fortification. QJM 2008;doi: 10.1093/qjmed/hcn031.
    • (2008) QJM
    • Ray, J.G.1    Goodman, J.2    O'Mahoney, P.R.3    Mamdani, M.M.4    Jiang, D.5
  • 65
    • 36048983814 scopus 로고    scopus 로고
    • Folate-mediated one-carbon metabolism and neural tube defects: Balancing genome synthesis and gene expression
    • Beaudin AE, Stover PJ. Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. Birth Defects Res C Embryo Today 2007; 81:183-203.
    • (2007) Birth Defects Res C Embryo Today , vol.81 , pp. 183-203
    • Beaudin, A.E.1    Stover, P.J.2
  • 69
    • 33750039987 scopus 로고    scopus 로고
    • Current perspectives on the genetic causes of neural tube defects
    • De Marco P, Merello E, Mascelli S, Capra V. Current perspectives on the genetic causes of neural tube defects. Neurogenetics 2006;7:201-21.
    • (2006) Neurogenetics , vol.7 , pp. 201-221
    • De Marco, P.1    Merello, E.2    Mascelli, S.3    Capra, V.4
  • 70
    • 33646749888 scopus 로고    scopus 로고
    • Etiology, pathogenesis and prevention of neural tube defects
    • Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom (Kyoto) 2006;46:55-67.
    • (2006) Congenit Anom (Kyoto) , vol.46 , pp. 55-67
    • Padmanabhan, R.1
  • 71
    • 33744455451 scopus 로고    scopus 로고
    • Genetic variation in genes of folate metabolism and neural-tube defect risk
    • van der Linden IJM, Afman LA, Heil SG, Blom HJ. Genetic variation in genes of folate metabolism and neural-tube defect risk. Proc Nutr Soc 2006;65:204-15.
    • (2006) Proc Nutr Soc , vol.65 , pp. 204-215
    • van der Linden, I.J.M.1    Afman, L.A.2    Heil, S.G.3    Blom, H.J.4
  • 73
    • 34247570440 scopus 로고    scopus 로고
    • Toward understanding the genetic basis of neural tube defects
    • Kibar Z, Capra V, Gros P. Toward understanding the genetic basis of neural tube defects. Clin Genet 2007;71:295-310.
    • (2007) Clin Genet , vol.71 , pp. 295-310
    • Kibar, Z.1    Capra, V.2    Gros, P.3
  • 74
    • 0032054038 scopus 로고    scopus 로고
    • Lack of association between mutations in the folate receptor-alpha gene and spina bifida
    • Barber RC, Shaw GM, Lammer EJ, et al. Lack of association between mutations in the folate receptor-alpha gene and spina bifida. Am J Med Genet 1998;76:310-7.
    • (1998) Am J Med Genet , vol.76 , pp. 310-317
    • Barber, R.C.1    Shaw, G.M.2    Lammer, E.J.3
  • 76
    • 12444290518 scopus 로고    scopus 로고
    • O'LearyVB, Mills JL, Kirke PN, et al. Analysis of the human folate receptor beta gene for an association with neural tube defects. Mol Genet Metab 2003;79:129-33.
    • O'LearyVB, Mills JL, Kirke PN, et al. Analysis of the human folate receptor beta gene for an association with neural tube defects. Mol Genet Metab 2003;79:129-33.
  • 78
    • 0033805360 scopus 로고    scopus 로고
    • A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
    • Chango A, Emery-Fillon N, de Courcy GP, et al. A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab 2000;70:310-5.
    • (2000) Mol Genet Metab , vol.70 , pp. 310-315
    • Chango, A.1    Emery-Fillon, N.2    de Courcy, G.P.3
  • 79
    • 0037083014 scopus 로고    scopus 로고
    • 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. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 2002;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
  • 80
    • 0242669376 scopus 로고    scopus 로고
    • Reduced folate carrier polymorphism (80A→G) and neural tube defects
    • De Marco P, Calevo MG, Moroni A, et al. Reduced folate carrier polymorphism (80A→G) and neural tube defects. Eur J Hum Genet 2003;11:245-52.
    • (2003) Eur J Hum Genet , vol.11 , pp. 245-252
    • De Marco, P.1    Calevo, M.G.2    Moroni, A.3
  • 81
    • 0037677623 scopus 로고    scopus 로고
    • Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk
    • Morin I, Devlin AM, Leclerc D, Sabbaghian N, Halsted CH, Finnell R, Rozen R. Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk. Mol Genet Metab 2003;79:197-200.
    • (2003) Mol Genet Metab , vol.79 , pp. 197-200
    • Morin, I.1    Devlin, A.M.2    Leclerc, D.3    Sabbaghian, N.4    Halsted, C.H.5    Finnell, R.6    Rozen, R.7
  • 83
    • 0028803474 scopus 로고
    • A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects
    • Whitehead AS, Gallagher P, Mills JL, et al. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. QJM 1995;88:763-6.
    • (1995) QJM , vol.88 , pp. 763-766
    • Whitehead, A.S.1    Gallagher, P.2    Mills, J.L.3
  • 84
    • 0028844492 scopus 로고
    • Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
    • van der Put NMJ, Steegers-Theunissen RP, Frosst P, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995;346:1070-1.
    • (1995) Lancet , vol.346 , pp. 1070-1071
    • van der Put, N.M.J.1    Steegers-Theunissen, R.P.2    Frosst, P.3
  • 85
    • 0031066138 scopus 로고    scopus 로고
    • Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis
    • van der Put NMJ, Eskes TK, Blom HJ. Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM 1997;90:111-5.
    • (1997) QJM , vol.90 , pp. 111-115
    • van der Put, N.M.J.1    Eskes, T.K.2    Blom, H.J.3
  • 86
    • 0030018760 scopus 로고    scopus 로고
    • 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
    • Ou CY, Stevenson RE, Brown VK, et al. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 1996;63: 610-4.
    • (1996) Am J Med Genet , vol.63 , pp. 610-614
    • Ou, C.Y.1    Stevenson, R.E.2    Brown, V.K.3
  • 87
    • 0032937206 scopus 로고    scopus 로고
    • Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
    • Christensen B, Arbour L, Tran P, Leclerc D, et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 1999;84:151-7.
    • (1999) Am J Med Genet , vol.84 , pp. 151-157
    • Christensen, B.1    Arbour, L.2    Tran, P.3    Leclerc, D.4
  • 88
    • 0033527788 scopus 로고    scopus 로고
    • Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects (NTD)
    • Stegmann K, Ziegler A, Ngo ET, et al. Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects (NTD). Am J Med Genet 1999;87:23-9.
    • (1999) Am J Med Genet , vol.87 , pp. 23-29
    • Stegmann, K.1    Ziegler, A.2    Ngo, E.T.3
  • 89
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
    • Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 2000;151:862-77.
    • (2000) Am J Epidemiol , vol.151 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 90
    • 0034958324 scopus 로고    scopus 로고
    • Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: A case-control study
    • Martínez de Villarreal LE, Delgado-Enciso I, Valdéz-Leal R, et al. Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study. Arch Med Res 2001;32:277-82.
    • (2001) Arch Med Res , vol.32 , pp. 277-282
    • Martínez de Villarreal, L.E.1    Delgado-Enciso, I.2    Valdéz-Leal, R.3
  • 91
    • 0037908697 scopus 로고    scopus 로고
    • Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects
    • Parle-McDermott A, Mills JL, Kirke PN, et al. Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects. J Hum Genet 2003; 48:190-3.
    • (2003) J Hum Genet , vol.48 , pp. 190-193
    • Parle-McDermott, A.1    Mills, J.L.2    Kirke, P.N.3
  • 92
    • 0041630889 scopus 로고    scopus 로고
    • Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects
    • Rampersaud E, Melvin EC, Siegel D, et al. Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. Clin Genet 2003;63:210-4.
    • (2003) Clin Genet , vol.63 , pp. 210-214
    • Rampersaud, E.1    Melvin, E.C.2    Siegel, D.3
  • 93
    • 0141925974 scopus 로고    scopus 로고
    • 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. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res A Clin Mol Teratol 2003;67:154-7.
    • (2003) Birth Defects Res 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
  • 94
    • 0031971515 scopus 로고    scopus 로고
    • A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
    • van der Put NMJ, Gabreëls F, Stevens EM, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-51.
    • (1998) Am J Hum Genet , vol.62 , pp. 1044-1051
    • van der Put, N.M.J.1    Gabreëls, F.2    Stevens, E.M.3
  • 95
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998;64:169-72.
    • (1998) Mol Genet Metab , vol.64 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 96
    • 0032865186 scopus 로고    scopus 로고
    • A common mutation A1298C in human methylenetetrahydrofolate reductase gene: Association with plasma total homocysteine and folate concentrations
    • Friedman G, Goldschmidt N, Friedlander Y, et al. A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations. J Nutr 1999;129:1656-61.
    • (1999) J Nutr , vol.129 , pp. 1656-1661
    • Friedman, G.1    Goldschmidt, N.2    Friedlander, Y.3
  • 97
    • 0033623867 scopus 로고    scopus 로고
    • The effect of 677C→T and 1298A→C mutations on plasma homocysteine and 5,10- methylenetetrahydrofolate reductase activity in healthy subjects
    • Chango A, Boisson F, Barbé F, et al. The effect of 677C→T and 1298A→C mutations on plasma homocysteine and 5,10- methylenetetrahydrofolate reductase activity in healthy subjects. Br J Nutr 2000;83:593-6.
    • (2000) Br J Nutr , vol.83 , pp. 593-596
    • Chango, A.1    Boisson, F.2    Barbé, F.3
  • 98
    • 0035067094 scopus 로고    scopus 로고
    • Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population
    • Richter B, Stegmann K, Röper B, Böddeker I, Ngo ET, Koch MC. Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J Hum Genet 2001; 46:105-9.
    • (2001) J Hum Genet , vol.46 , pp. 105-109
    • Richter, B.1    Stegmann, K.2    Röper, B.3    Böddeker, I.4    Ngo, E.T.5    Koch, M.C.6
  • 99
    • 1842418757 scopus 로고    scopus 로고
    • 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, et al. Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Mol Genet Metab 2004;81:273-81.
    • (2004) Mol Genet Metab , vol.81 , pp. 273-281
    • Relton, C.L.1    Wilding, C.S.2    Laffling, A.J.3
  • 100
    • 0035987006 scopus 로고    scopus 로고
    • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
    • De Marco P, Calevo MG, Moroni A, et al. Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population J Hum Genet 2002;47:319-24.
    • (2002) J Hum Genet , vol.47 , pp. 319-324
    • De Marco, P.1    Calevo, M.G.2    Moroni, A.3
  • 101
    • 0036844005 scopus 로고    scopus 로고
    • Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
    • Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet 2002;71:1222-6.
    • (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
  • 102
    • 0037865225 scopus 로고    scopus 로고
    • Trans-cobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans
    • Guéant-Rodriguez RM, Rendeli C, Namour B, et al.Trans-cobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett 2003;344:189-92.
    • (2003) Neurosci Lett , vol.344 , pp. 189-192
    • Guéant-Rodriguez, R.M.1    Rendeli, C.2    Namour, B.3
  • 103
    • 0037341890 scopus 로고    scopus 로고
    • Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects
    • Zhu H, Wicker NJ, Shaw GM, et al. Homocysteine remethylation enzyme polymorphisms and increased risks 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
  • 104
    • 4644336977 scopus 로고    scopus 로고
    • Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects
    • Gos M, Sliwerska E, Szpecht-Potocka A. Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects. J Appl Genet 2004;45: 363-8.
    • (2004) J Appl Genet , vol.45 , pp. 363-368
    • Gos, M.1    Sliwerska, E.2    Szpecht-Potocka, A.3
  • 105
    • 0030804226 scopus 로고    scopus 로고
    • Sequence analysis of the coding region of human methionine synthase: Relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease
    • van der Put NMJ, van der Molen EF, Kluijtmans LA, et al. Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease. QJM 1997;90: 511-7.
    • (1997) QJM , vol.90 , pp. 511-517
    • van der Put, N.M.J.1    van der Molen, E.F.2    Kluijtmans, L.A.3
  • 107
    • 0034044549 scopus 로고    scopus 로고
    • Altered folate metabolism and disposition in mothers affected by a spina bifida pregnancy: Influence of 677c→t methylenetetrahydrofolate reductase and 2756a→g methionine synthase genotypes
    • Lucock M, Daskalakis I, Briggs D, Yates Z, Levene M. Altered folate metabolism and disposition in mothers affected by a spina bifida pregnancy: influence of 677c→t methylenetetrahydrofolate reductase and 2756a→g methionine synthase genotypes. Mol Genet Metab 2000;70:27-44.
    • (2000) Mol Genet Metab , vol.70 , pp. 27-44
    • Lucock, M.1    Daskalakis, I.2    Briggs, D.3    Yates, Z.4    Levene, M.5
  • 108
    • 0034842062 scopus 로고    scopus 로고
    • An examination of polymorphic genes and folate metabolism in mothers affected by a spina bifida pregnancy
    • Lucock M, Daskalakis I, Hinkins M, Yates Z. An examination of polymorphic genes and folate metabolism in mothers affected by a spina bifida pregnancy. Mol Genet Metab 2001;73:322-32.
    • (2001) Mol Genet Metab , vol.73 , pp. 322-332
    • Lucock, M.1    Daskalakis, I.2    Hinkins, M.3    Yates, Z.4
  • 109
    • 0041385695 scopus 로고    scopus 로고
    • Polymorphisms of the 5,10-methylenetetrahydrofolate and the 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 the 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
  • 110
    • 20544456790 scopus 로고    scopus 로고
    • Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association
    • O'Leary VB, Mills JL, Pangilinan F, et al. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. Mol Genet Metab 2005;85:220-7.
    • (2005) Mol Genet Metab , vol.85 , pp. 220-227
    • O'Leary, V.B.1    Mills, J.L.2    Pangilinan, F.3
  • 111
    • 33749428869 scopus 로고    scopus 로고
    • Neural tube defects and folate pathway genes: Family-based association tests of gene-gene and gene-environment interactions
    • Boyles AL, Billups AV, Deak KL, et al. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environ Health Perspect 2006;114:1547-52.
    • (2006) Environ Health Perspect , vol.114 , pp. 1547-1552
    • Boyles, A.L.1    Billups, A.V.2    Deak, K.L.3
  • 112
    • 0023787347 scopus 로고
    • Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydro-folate synthetase
    • Hum DW, Bell AW, Rozen R, MacKenzie RE. Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydro-folate synthetase. J Biol Chem 1988;263:15946-50.
    • (1988) J Biol Chem , vol.263 , pp. 15946-15950
    • Hum, D.W.1    Bell, A.W.2    Rozen, R.3    MacKenzie, R.E.4
  • 113
    • 0031969348 scopus 로고    scopus 로고
    • Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate- dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydro-folate synthetase) in patients with neural tube defects
    • Hol FA, van der Put NMJ, Geurds MP, et al. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate- dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydro-folate synthetase) in patients with neural tube defects. Clin Genet 1998;53:119-25.
    • (1998) Clin Genet , vol.53 , pp. 119-125
    • Hol, F.A.1    van der Put, N.M.J.2    Geurds, M.P.3
  • 114
    • 18644379774 scopus 로고    scopus 로고
    • Brody LC, Conley M, Cox C, et al. 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 2002;71:1207-1 5.
    • Brody LC, Conley M, Cox C, et al. 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 2002;71:1207-1 5.
  • 115
    • 33744460203 scopus 로고    scopus 로고
    • 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, etal. 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 2006;14:768-72.
    • (2006) Eur J Hum Genet , vol.14 , pp. 768-772
    • Parle-McDermott, A.1    Kirke, P.N.2    Mills, J.L.3
  • 116
    • 31544464705 scopus 로고    scopus 로고
    • 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. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. J Hum Genet 2006;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
  • 118
    • 34547101719 scopus 로고    scopus 로고
    • Evidence for small ubiquitin-like modifier-dependent nuclear import of the thymidylate biosynthesis pathway
    • Woeller CF, Anderson DD, Szebenyi DME, Stover PJ. Evidence for small ubiquitin-like modifier-dependent nuclear import of the thymidylate biosynthesis pathway. J Biol Chem 2007;282:17623-31.
    • (2007) J Biol Chem , vol.282 , pp. 17623-17631
    • Woeller, C.F.1    Anderson, D.D.2    Szebenyi, D.M.E.3    Stover, P.J.4
  • 119
    • 23244465629 scopus 로고    scopus 로고
    • Polymorphisms in cytoplasmic serine hydroxymethyltransferase and methylenetetrahydrofolate reductase affect the risk of cardiovascular disease in men
    • Lim U, Peng K, Shane B, et al. Polymorphisms in cytoplasmic serine hydroxymethyltransferase and methylenetetrahydrofolate reductase affect the risk of cardiovascular disease in men J Nutr 2005;135:1989-94.
    • (2005) J Nutr , vol.135 , pp. 1989-1994
    • Lim, U.1    Peng, K.2    Shane, B.3
  • 120
    • 0029122937 scopus 로고
    • Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the humangene for thymidylate synthase
    • Horie N, Aiba H, Oguro K, Hojo H, Takeishi K. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the humangene for thymidylate synthase. Cell Struct Funct 1995;20: 191-7.
    • (1995) Cell Struct Funct , vol.20 , pp. 191-197
    • Horie, N.1    Aiba, H.2    Oguro, K.3    Hojo, H.4    Takeishi, K.5
  • 121
    • 0033427561 scopus 로고    scopus 로고
    • Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers
    • Kawakami K, Omura K, Kanehira E, Watanabe Y. Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers. Anticancer Res 1999;19:3249-52.
    • (1999) Anticancer Res , vol.19 , pp. 3249-3252
    • Kawakami, K.1    Omura, K.2    Kanehira, E.3    Watanabe, Y.4
  • 122
    • 0035671827 scopus 로고    scopus 로고
    • Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression
    • Kawakami K, Salonga D, Park JM, et al. Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression. Clin Cancer Res 2001;7:4096-101.
    • (2001) Clin Cancer Res , vol.7 , pp. 4096-4101
    • Kawakami, K.1    Salonga, D.2    Park, J.M.3
  • 123
    • 0036765747 scopus 로고    scopus 로고
    • Thymidylate synthase: A novel genetic determinant of plasma homocysteine and folate levels
    • Trinh BN, Ong CN, Coetzee GA, Yu MC, Laird PW. Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels. Hum Cenet 2002;111: 299-302.
    • (2002) Hum Cenet , 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
  • 125
    • 10744222721 scopus 로고    scopus 로고
    • The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects
    • Brown KS, Kluijtmans LAJ, Young IS, et al. The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects. Hum Genet 2004;114:182-5.
    • (2004) Hum Genet , vol.114 , pp. 182-185
    • Brown, K.S.1    Kluijtmans, L.A.J.2    Young, I.S.3
  • 126
    • 0034518362 scopus 로고    scopus 로고
    • Searching expressed sequence tag databases: Discovery and confirmation of a common polymorphism in the thymidylate synthase gene
    • Ulrich CM, Bigler J, Velicer CM, Greene EA, Farin FM, Potter JD. Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol Biomarkers Prev 2000;9:1381-5.
    • (2000) Cancer Epidemiol Biomarkers Prev , vol.9 , pp. 1381-1385
    • Ulrich, C.M.1    Bigler, J.2    Velicer, C.M.3    Greene, E.A.4    Farin, F.M.5    Potter, J.D.6
  • 128
    • 0942290719 scopus 로고    scopus 로고
    • New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy?
    • Johnson WG, Stenroos ES, Spychala JR, Chatkupt S, Ming SX, Buyske S. New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? Am J Med Cenet A 2004;124:339-45.
    • (2004) Am J Med Cenet A , vol.124 , pp. 339-345
    • Johnson, W.G.1    Stenroos, E.S.2    Spychala, J.R.3    Chatkupt, S.4    Ming, S.X.5    Buyske, S.6
  • 129
    • 34047248403 scopus 로고    scopus 로고
    • Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida
    • van der Linden IJM, Nguyen U, Heil SG, et al. Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida. Mol Genet Metab 2007;91:98-103.
    • (2007) Mol Genet Metab , vol.91 , pp. 98-103
    • van der Linden, I.J.M.1    Nguyen, U.2    Heil, S.G.3
  • 130
    • 34249903333 scopus 로고    scopus 로고
    • The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
    • Parle-McDermott A, Pangilinan F, MillsJL, et al.The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am J Med Genet A 2007;143:1174-80.
    • (2007) Am J Med Genet A , vol.143 , pp. 1174-1180
    • Parle-McDermott, A.1    Pangilinan, F.2    MillsJL3
  • 131
    • 41149145923 scopus 로고    scopus 로고
    • An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women
    • Stanistawska-Sachadyn A, Brown KS, Mitchell LE, et al. An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women. Hum Genet 2008;123:289-95.
    • (2008) Hum Genet , vol.123 , pp. 289-295
    • Stanistawska-Sachadyn, A.1    Brown, K.S.2    Mitchell, L.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.