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Volumn 13, Issue , 2012, Pages

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

(21)  Pangilinan, Faith a   Molloy, Anne M b   Mills, James L c   Troendle, James F d   Parle McDermott, Anne e   Signore, Caroline c   O'Leary, Valerie B e   Chines, Peter a   Seay, Jessica M a   Geiler Samerotte, Kerry a   Mitchell, Adam a   VanderMeer, Julia E a   Krebs, Kristine M a   Sanchez, Angelica a   Cornman Homonoff, Joshua a   Stone, Nicole a   Conley, Mary c   Kirke, Peadar N f   Shane, Barry g   Scott, John M b   more..


Author keywords

Candidate gene; Folic acid; Neural tube defects; One carbon metabolism; Spina bifida

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENOSINE DEAMINASE; ADENOSYLHOMOCYSTEINASE; ALDEHYDE DEHYDROGENASE; CYANOCOBALAMIN; DIHYDROFOLATE REDUCTASE; DIMETHYLGLYCINE DEHYDROGENASE; E1A ASSOCIATED P300 PROTEIN; FOLATE RECEPTOR 1; FOLATE RECEPTOR 2; FOLIC ACID; FOLYLPOLYGLUTAMATE SYNTHASE; GAMMA GLUTAMYL HYDROLASE; GLUTAMATE RECEPTOR; GLYCINE HYDROXYMETHYLTRANSFERASE; GLYCINE METHYLTRANSFERASE; INTERFERON REGULATORY FACTOR 6; INTRINSIC FACTOR; METHIONINE ADENOSYLTRANSFERASE; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NAD); NICOTINAMIDE METHYLTRANSFERASE; NITRIC OXIDE SYNTHASE; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE; PROTEIN S ISOPRENYLCYSTEINE O METHYLTRANSFERASE; RETINOIC ACID INDUCIBLE PROTEIN I; TRANSCOBALAMIN; TRANSCOBALAMIN II;

EID: 84864485434     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-62     Document Type: Article
Times cited : (74)

References (59)
  • 2
    • 15044363790 scopus 로고    scopus 로고
    • Preventing neural tube defects in Europe: population based study
    • 10.1136/bmj.330.7491.574, 554030, 15760997
    • Busby A, Abramsky L, Dolk H, Armstrong B. Preventing neural tube defects in Europe: population based study. BMJ 2005, 330(7491):574-575. 10.1136/bmj.330.7491.574, 554030, 15760997.
    • (2005) BMJ , vol.330 , Issue.7491 , pp. 574-575
    • Busby, A.1    Abramsky, L.2    Dolk, H.3    Armstrong, B.4
  • 4
    • 20144380163 scopus 로고    scopus 로고
    • International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?
    • 10.1136/bmj.38336.664352.82, 554029, 15722368
    • Botto LD, Lisi A, Robert-Gnansia E, Erickson JD, Vollset SE, Mastroiacovo P, Botting B, Cocchi G, de Vigan C, de Walle H, et al. International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?. BMJ 2005, 330(7491):571. 10.1136/bmj.38336.664352.82, 554029, 15722368.
    • (2005) BMJ , vol.330 , Issue.7491 , pp. 571
    • Botto, L.D.1    Lisi, A.2    Robert-Gnansia, E.3    Erickson, J.D.4    Vollset, S.E.5    Mastroiacovo, P.6    Botting, B.7    Cocchi, G.8    de Vigan, C.9    de Walle, H.10
  • 5
    • 0033547432 scopus 로고    scopus 로고
    • Neural-tube defects
    • 10.1056/NEJM199911113412006, 10559453
    • Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N Engl J Med 1999, 341(20):1509-1519. 10.1056/NEJM199911113412006, 10559453.
    • (1999) N Engl J Med , vol.341 , Issue.20 , pp. 1509-1519
    • Botto, L.D.1    Moore, C.A.2    Khoury, M.J.3    Erickson, J.D.4
  • 6
    • 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. Q J Med 1993, 86(11):703-708.
    • (1993) Q J Med , vol.86 , Issue.11 , 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
  • 7
    • 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(8760):131-137. MRC Vitamin Study Research Group.
    • (1991) Lancet , vol.338 , Issue.8760 , pp. 131-137
  • 8
    • 0027080461 scopus 로고
    • Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
    • 10.1056/NEJM199212243272602, 1307234
    • Czeizel AE, Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992, 327(26):1832-1835. 10.1056/NEJM199212243272602, 1307234.
    • (1992) N Engl J Med , vol.327 , Issue.26 , pp. 1832-1835
    • Czeizel, A.E.1    Dudas, I.2
  • 9
    • 0033547440 scopus 로고    scopus 로고
    • Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention
    • 10.1056/NEJM199911113412001, 10559448
    • Berry RJ, Li Z, Erickson JD, Li S, Moore CA, Wang H, Mulinare J, Zhao P, Wong LY, Gindler J, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med 1999, 341(20):1485-1490. 10.1056/NEJM199911113412001, 10559448.
    • (1999) N Engl J Med , vol.341 , Issue.20 , pp. 1485-1490
    • Berry, R.J.1    Li, Z.2    Erickson, J.D.3    Li, S.4    Moore, C.A.5    Wang, H.6    Mulinare, J.7    Zhao, P.8    Wong, L.Y.9    Gindler, J.10
  • 10
    • 0029372892 scopus 로고
    • A case-control study of maternal nutrition and neural tube defects in Northern Ireland
    • 10.1016/0266-6138(95)90029-2, 7565158
    • Wright ME. A case-control study of maternal nutrition and neural tube defects in Northern Ireland. Midwifery 1995, 11(3):146-152. 10.1016/0266-6138(95)90029-2, 7565158.
    • (1995) Midwifery , vol.11 , Issue.3 , pp. 146-152
    • Wright, M.E.1
  • 11
    • 67650354893 scopus 로고    scopus 로고
    • Maternal serum vitamin B12, folate and homocysteine and the risk of neural tube defects in the offspring in a high-risk area of China
    • 10.1017/S1368980008002735, 18547453
    • Zhang T, Xin R, Gu X, Wang F, Pei L, Lin L, Chen G, Wu J, Zheng X. Maternal serum vitamin B12, folate and homocysteine and the risk of neural tube defects in the offspring in a high-risk area of China. Public Health Nutr 2009, 12(5):680-686. 10.1017/S1368980008002735, 18547453.
    • (2009) Public Health Nutr , vol.12 , Issue.5 , pp. 680-686
    • Zhang, T.1    Xin, R.2    Gu, X.3    Wang, F.4    Pei, L.5    Lin, L.6    Chen, G.7    Wu, J.8    Zheng, X.9
  • 12
    • 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(1-2):69-75.
    • (2007) Clin Lab , vol.53 , Issue.1-2 , pp. 69-75
    • Gaber, K.R.1    Farag, M.K.2    Soliman, S.E.3    El-Bassyouni, H.T.4    El-Kamah, G.5
  • 13
    • 11244341006 scopus 로고    scopus 로고
    • Relationship between folate, vitamin B12, total plasma homocysteine and mutation of reductase
    • Hao L, Liu M, Liu X, Chen X, Tang Y, Li Z. Relationship between folate, vitamin B12, total plasma homocysteine and mutation of reductase. Zhonghua Yu Fang Yi Xue Za Zhi 2000, 34(1):22-24.
    • (2000) Zhonghua Yu Fang Yi Xue Za Zhi , vol.34 , Issue.1 , pp. 22-24
    • Hao, L.1    Liu, M.2    Liu, X.3    Chen, X.4    Tang, Y.5    Li, Z.6
  • 14
    • 0037306954 scopus 로고    scopus 로고
    • Maternal serum B12 levels and risk for neural tube defects in a Texas-Mexico border population
    • 10.1016/S1047-2797(02)00267-3, 12559666
    • 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(2):81-88. 10.1016/S1047-2797(02)00267-3, 12559666.
    • (2003) Ann Epidemiol , vol.13 , Issue.2 , pp. 81-88
    • Suarez, L.1    Hendricks, K.2    Felkner, M.3    Gunter, E.4
  • 16
    • 43049104999 scopus 로고    scopus 로고
    • Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study
    • 10.1002/ajmg.a.32199, 18386810
    • Candito M, Rivet R, Herbeth B, Boisson C, Rudigoz RC, Luton D, Journel H, Oury JF, Roux F, Saura R, et al. Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study. Am J Med Genet A 2008, 146A(9):1128-1133. 10.1002/ajmg.a.32199, 18386810.
    • (2008) Am J Med Genet A , vol.146 A , Issue.9 , pp. 1128-1133
    • Candito, M.1    Rivet, R.2    Herbeth, B.3    Boisson, C.4    Rudigoz, R.C.5    Luton, D.6    Journel, H.7    Oury, J.F.8    Roux, F.9    Saura, R.10
  • 17
    • 63149166599 scopus 로고    scopus 로고
    • Maternal vitamin B12 status and risk of neural tube defects in a population with high neural tube defect prevalence and no folic Acid fortification
    • 10.1542/peds.2008-1173, 19255021
    • Molloy AM, Kirke PN, Troendle JF, Burke H, Sutton M, Brody LC, Scott JM, Mills JL. Maternal vitamin B12 status and risk of neural tube defects in a population with high neural tube defect prevalence and no folic Acid fortification. Pediatrics 2009, 123(3):917-923. 10.1542/peds.2008-1173, 19255021.
    • (2009) Pediatrics , vol.123 , Issue.3 , pp. 917-923
    • Molloy, A.M.1    Kirke, P.N.2    Troendle, J.F.3    Burke, H.4    Sutton, M.5    Brody, L.C.6    Scott, J.M.7    Mills, J.L.8
  • 18
    • 55449125896 scopus 로고    scopus 로고
    • Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects
    • 10.1002/bdra.20511, 2981339, 18937341
    • Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC. Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res A Clin Mol Teratol 2008, 82(10):662-669. 10.1002/bdra.20511, 2981339, 18937341.
    • (2008) Birth Defects Res A Clin Mol Teratol , vol.82 , Issue.10 , pp. 662-669
    • Deak, K.L.1    Siegel, D.G.2    George, T.M.3    Gregory, S.4    Ashley-Koch, A.5    Speer, M.C.6
  • 19
    • 0003884184 scopus 로고
    • Oxford University Press, Oxford, England, Epidemiology and control of neural tube defects
    • Epidemiology and control of neural tube defects Epidemiology and control of neural tube defects 1992, Oxford University Press, Oxford, England, Epidemiology and control of neural tube defects.
    • (1992) Epidemiology and control of neural tube defects
  • 20
    • 35348969863 scopus 로고    scopus 로고
    • Neural tube defects in the sample of genetic counselling
    • 10.1002/pd.1801, 17602445
    • Joo JG, Beke A, Papp C, Toth-Pal E, Csaba A, Szigeti Z, Papp Z. Neural tube defects in the sample of genetic counselling. Prenat Diagn 2007, 27(10):912-921. 10.1002/pd.1801, 17602445.
    • (2007) Prenat Diagn , vol.27 , Issue.10 , pp. 912-921
    • Joo, J.G.1    Beke, A.2    Papp, C.3    Toth-Pal, E.4    Csaba, A.5    Szigeti, Z.6    Papp, Z.7
  • 22
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
    • 10.1093/oxfordjournals.aje.a010290, 10791559
    • Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 2000, 151(9):862-877. 10.1093/oxfordjournals.aje.a010290, 10791559.
    • (2000) Am J Epidemiol , vol.151 , Issue.9 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 23
    • 18644379774 scopus 로고    scopus 로고
    • 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
    • 10.1086/344213, 385099, 12384833
    • Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL, Molloy AM, O'Leary VB, Parle-McDermott A, Scott JM, 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(5):1207-1215. 10.1086/344213, 385099, 12384833.
    • (2002) Am J Hum Genet , vol.71 , Issue.5 , 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
  • 24
    • 31544464705 scopus 로고    scopus 로고
    • Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958 G > A polymorphism for neural tube defect risk
    • 10.1007/s10038-005-0329-6, 16315005
    • De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958 G > A polymorphism for neural tube defect risk. J Hum Genet 2006, 51(2):98-103. 10.1007/s10038-005-0329-6, 16315005.
    • (2006) J Hum Genet , vol.51 , Issue.2 , 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
  • 25
    • 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
    • 10.1038/sj.ejhg.5201603, 16552426
    • Parle-McDermott A, Kirke PN, Mills JL, Molloy AM, Cox C, O'Leary VB, Pangilinan F, Conley M, Cleary L, Brody LC, et al. 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(6):768-772. 10.1038/sj.ejhg.5201603, 16552426.
    • (2006) Eur J Hum Genet , vol.14 , Issue.6 , 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
  • 28
    • 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
    • 10.1002/ajmg.a.31725, 17486595
    • Parle-McDermott A, Pangilinan F, Mills JL, Kirke PN, Gibney ER, Troendle J, O'Leary VB, Molloy AM, Conley M, Scott JM, 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, 143A(11):1174-1180. 10.1002/ajmg.a.31725, 17486595.
    • (2007) Am J Med Genet A , vol.143 A , Issue.11 , pp. 1174-1180
    • Parle-McDermott, A.1    Pangilinan, F.2    Mills, J.L.3    Kirke, P.N.4    Gibney, E.R.5    Troendle, J.6    O'Leary, V.B.7    Molloy, A.M.8    Conley, M.9    Scott, J.M.10
  • 29
    • 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?
    • 10.1002/ajmg.a.20505, 14735580
    • 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 Genet A 2004, 124A(4):339-345. 10.1002/ajmg.a.20505, 14735580.
    • (2004) Am J Med Genet A , vol.124 A , Issue.4 , 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
  • 30
    • 67649870480 scopus 로고    scopus 로고
    • Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects
    • 10.1002/ajmg.a.32937, 19533788
    • Doudney K, Grinham J, Whittaker J, Lynch SA, Thompson D, Moore GE, Copp AJ, Greene ND, Stanier P. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. Am J Med Genet A 2009, 149A(7):1585-1589. 10.1002/ajmg.a.32937, 19533788.
    • (2009) Am J Med Genet A , vol.149 A , Issue.7 , 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
  • 31
    • 1942469552 scopus 로고    scopus 로고
    • Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population
    • 10.1136/jmg.2003.010694, 1735724, 15060097
    • Relton CL, Wilding CS, Pearce MS, Laffling AJ, Jonas PA, Lynch SA, Tawn EJ, Burn J. Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. J Med Genet 2004, 41(4):256-260. 10.1136/jmg.2003.010694, 1735724, 15060097.
    • (2004) J Med Genet , vol.41 , Issue.4 , pp. 256-260
    • Relton, C.L.1    Wilding, C.S.2    Pearce, M.S.3    Laffling, A.J.4    Jonas, P.A.5    Lynch, S.A.6    Tawn, E.J.7    Burn, J.8
  • 33
    • 0037341890 scopus 로고    scopus 로고
    • Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects
    • 10.1016/S1096-7192(03)00008-8, 12649067
    • Zhu H, Wicker NJ, Shaw GM, Lammer EJ, Hendricks K, Suarez L, Canfield M, Finnell RH. Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab 2003, 78(3):216-221. 10.1016/S1096-7192(03)00008-8, 12649067.
    • (2003) Mol Genet Metab , vol.78 , Issue.3 , pp. 216-221
    • Zhu, H.1    Wicker, N.J.2    Shaw, G.M.3    Lammer, E.J.4    Hendricks, K.5    Suarez, L.6    Canfield, M.7    Finnell, R.H.8
  • 36
    • 70349322403 scopus 로고    scopus 로고
    • 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. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol 2009, 201(4):394 e391-311.
    • (2009) Am J Obstet Gynecol , vol.201 , Issue.4
    • 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
  • 38
    • 77957591873 scopus 로고    scopus 로고
    • Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study
    • 10.1186/1471-2350-11-141, 2964532, 20932315
    • Lu W, Guzman AR, Yang W, Chapa CJ, Shaw GM, Greene RM, Pisano MM, Lammer EJ, Finnell RH, Zhu H. Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study. BMC Med Genet 2010, 11:141. 10.1186/1471-2350-11-141, 2964532, 20932315.
    • (2010) BMC Med Genet , vol.11 , pp. 141
    • Lu, W.1    Guzman, A.R.2    Yang, W.3    Chapa, C.J.4    Shaw, G.M.5    Greene, R.M.6    Pisano, M.M.7    Lammer, E.J.8    Finnell, R.H.9    Zhu, H.10
  • 39
    • 34547756524 scopus 로고    scopus 로고
    • Activity of adenosine deaminase in mothers who have conceived a fetus with central nervous system malformations
    • Engin-Ustun Y, Ustun Y, Sezgin B, Karabulut AB, Kiran TR, Kafkasli A. Activity of adenosine deaminase in mothers who have conceived a fetus with central nervous system malformations. J Perinat Med 2007, 35(5):399-402.
    • (2007) J Perinat Med , vol.35 , Issue.5 , pp. 399-402
    • Engin-Ustun, Y.1    Ustun, Y.2    Sezgin, B.3    Karabulut, A.B.4    Kiran, T.R.5    Kafkasli, A.6
  • 40
    • 33646914222 scopus 로고    scopus 로고
    • Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifida
    • 2970521, 16523512
    • Zhang J, Zhu H, Yang W, Shaw GM, Lammer EJ, Finnell RH. Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifida. Am J Med Genet A 2006, 140(7):785-789. 2970521, 16523512.
    • (2006) Am J Med Genet A , vol.140 , Issue.7 , pp. 785-789
    • Zhang, J.1    Zhu, H.2    Yang, W.3    Shaw, G.M.4    Lammer, E.J.5    Finnell, R.H.6
  • 41
    • 77955616558 scopus 로고    scopus 로고
    • Compartmentalization of Mammalian folate-mediated one-carbon metabolism
    • 10.1146/annurev.nutr.012809.104810, 20645850
    • Tibbetts AS, Appling DR. Compartmentalization of Mammalian folate-mediated one-carbon metabolism. Annu Rev Nutr 2010, 30:57-81. 10.1146/annurev.nutr.012809.104810, 20645850.
    • (2010) Annu Rev Nutr , vol.30 , pp. 57-81
    • Tibbetts, A.S.1    Appling, D.R.2
  • 42
    • 70449553669 scopus 로고    scopus 로고
    • Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway
    • 10.1093/hmg/ddp428, 2773275, 19744961
    • Hazra A, Kraft P, Lazarus R, Chen C, Chanock SJ, Jacques P, Selhub J, Hunter DJ. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Genet 2009, 18(23):4677-4687. 10.1093/hmg/ddp428, 2773275, 19744961.
    • (2009) Hum Mol Genet , vol.18 , Issue.23 , pp. 4677-4687
    • Hazra, A.1    Kraft, P.2    Lazarus, R.3    Chen, C.4    Chanock, S.J.5    Jacques, P.6    Selhub, J.7    Hunter, D.J.8
  • 43
    • 58249090021 scopus 로고    scopus 로고
    • Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts
    • 10.1097/GIM.0b013e3181833793, 2734954, 18978678
    • Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genet Med 2008, 10(9):668-674. 10.1097/GIM.0b013e3181833793, 2734954, 18978678.
    • (2008) Genet Med , vol.10 , Issue.9 , pp. 668-674
    • Vieira, A.R.1    McHenry, T.G.2    Daack-Hirsch, S.3    Murray, J.C.4    Marazita, M.L.5
  • 44
    • 9244225669 scopus 로고    scopus 로고
    • Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida
    • 10.1093/hmg/5.5.669, 8733136
    • Morrison K, Papapetrou C, Attwood J, Hol F, Lynch SA, Sampath A, Hamel B, Burn J, Sowden J, Stott D, et al. Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. Hum Mol Genet 1996, 5(5):669-674. 10.1093/hmg/5.5.669, 8733136.
    • (1996) Hum Mol Genet , vol.5 , Issue.5 , pp. 669-674
    • Morrison, K.1    Papapetrou, C.2    Attwood, J.3    Hol, F.4    Lynch, S.A.5    Sampath, A.6    Hamel, B.7    Burn, J.8    Sowden, J.9    Stott, D.10
  • 45
    • 0032893230 scopus 로고    scopus 로고
    • Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population
    • 10.1002/(SICI)1096-9926(199905)59:5<331::AID-TERA4>3.0.CO;2-L, 10332959
    • Trembath D, Sherbondy AL, Vandyke DC, Shaw GM, Todoroff K, Lammer EJ, Finnell RH, Marker S, Lerner G, Murray JC. Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. Teratology 1999, 59(5):331-341. 10.1002/(SICI)1096-9926(199905)59:5<331::AID-TERA4>3.0.CO;2-L, 10332959.
    • (1999) Teratology , vol.59 , Issue.5 , pp. 331-341
    • Trembath, D.1    Sherbondy, A.L.2    Vandyke, D.C.3    Shaw, G.M.4    Todoroff, K.5    Lammer, E.J.6    Finnell, R.H.7    Marker, S.8    Lerner, G.9    Murray, J.C.10
  • 46
    • 0034729227 scopus 로고    scopus 로고
    • Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury)
    • 10.1002/(SICI)1096-8628(20000529)92:3<206::AID-AJMG9>3.0.CO;2-W, 10817656
    • Shields DC, Ramsbottom D, Donoghue C, Pinjon E, Kirke PN, Molloy AM, Edwards YH, Mills JL, Mynett-Johnson L, Weir DG, et al. Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury). Am J Med Genet 2000, 92(3):206-211. 10.1002/(SICI)1096-8628(20000529)92:3<206::AID-AJMG9>3.0.CO;2-W, 10817656.
    • (2000) Am J Med Genet , vol.92 , Issue.3 , pp. 206-211
    • Shields, D.C.1    Ramsbottom, D.2    Donoghue, C.3    Pinjon, E.4    Kirke, P.N.5    Molloy, A.M.6    Edwards, Y.H.7    Mills, J.L.8    Mynett-Johnson, L.9    Weir, D.G.10
  • 49
    • 0029800387 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase mutation and neural tube defects
    • Kirke PN, Mills JL, Whitehead AS, Molloy A, Scott JM. Methylenetetrahydrofolate reductase mutation and neural tube defects. Lancet 1996, 348(9033):1037-1038.
    • (1996) Lancet , vol.348 , Issue.9033 , pp. 1037-1038
    • Kirke, P.N.1    Mills, J.L.2    Whitehead, A.S.3    Molloy, A.4    Scott, J.M.5
  • 51
    • 55549121969 scopus 로고    scopus 로고
    • Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population
    • 10.1002/ajmg.a.32504, 2836760, 18798306
    • Pangilinan F, Geiler K, Dolle J, Troendle J, Swanson DA, Molloy AM, Sutton M, Conley M, Kirke PN, Scott JM, et al. Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population. Am J Med Genet A 2008, 146A(20):2617-2625. 10.1002/ajmg.a.32504, 2836760, 18798306.
    • (2008) Am J Med Genet A , vol.146 A , Issue.20 , pp. 2617-2625
    • Pangilinan, F.1    Geiler, K.2    Dolle, J.3    Troendle, J.4    Swanson, D.A.5    Molloy, A.M.6    Sutton, M.7    Conley, M.8    Kirke, P.N.9    Scott, J.M.10
  • 52
    • 0033365197 scopus 로고    scopus 로고
    • 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
    • 10.1086/302310, 1377828, 10090889
    • Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, Burke H, Weir DG, Scott JM, Whitehead AS. 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(4):1045-1055. 10.1086/302310, 1377828, 10090889.
    • (1999) Am J Hum Genet , vol.64 , Issue.4 , 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    Weir, D.G.7    Scott, J.M.8    Whitehead, A.S.9
  • 54
    • 3042784787 scopus 로고    scopus 로고
    • Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study
    • 10.1136/bmj.38036.646030.EE, 437144, 15155469
    • Kirke PN, Mills JL, Molloy AM, Brody LC, O'Leary VB, Daly L, Murray S, Conley M, Mayne PD, Smith O, et al. Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study. BMJ 2004, 328(7455):1535-1536. 10.1136/bmj.38036.646030.EE, 437144, 15155469.
    • (2004) BMJ , vol.328 , Issue.7455 , pp. 1535-1536
    • Kirke, P.N.1    Mills, J.L.2    Molloy, A.M.3    Brody, L.C.4    O'Leary, V.B.5    Daly, L.6    Murray, S.7    Conley, M.8    Mayne, P.D.9    Smith, O.10
  • 55
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • 10.1038/nature02168, 14685227
    • The International HapMap Project. Nature 2003, 426(6968):789-796. 10.1038/nature02168, 14685227.
    • (2003) Nature , vol.426 , Issue.6968 , pp. 789-796
  • 56
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • 10.1093/bioinformatics/bth457, 15297300
    • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21(2):263-265. 10.1093/bioinformatics/bth457, 15297300.
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 57
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • 10.1038/ng1706, 16415888
    • Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006, 38(2):209-213. 10.1038/ng1706, 16415888.
    • (2006) Nat Genet , vol.38 , Issue.2 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 58
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • 1682161, 8447318
    • 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(3):506-516. 1682161, 8447318.
    • (1993) Am J Hum Genet , vol.52 , Issue.3 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 59
    • 79851475205 scopus 로고    scopus 로고
    • Correction for multiplicity in genetic association studies of triads: the permutational TDT
    • 3117224, 21108625
    • Troendle JF, Mills JL. Correction for multiplicity in genetic association studies of triads: the permutational TDT. Ann Hum Genet 2011, 75(2):284-291. 3117224, 21108625.
    • (2011) Ann Hum Genet , vol.75 , Issue.2 , pp. 284-291
    • Troendle, J.F.1    Mills, J.L.2


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