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LA Afman KJ Lievers LA Kluijtmans , FJ Trijbels HJ Blom (2003a) Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C→T polymorphism on homocysteine levels and risk for neural tube defects Molecular Genetics and Metabolism 78 211–215.
LA Afman KJ Lievers NM van der Put FJ Trijbels , HJ Blom (2002) Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects European Journal of Human Genetics 10 433–438.
LA Afman NM van der Put CM Thomas , JM Trijbels HJ Blom (2001) Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects Quarterly Journal of Medicine 94 159–166.
N Akar E Akar G Deda S Arsan (2000) Spina bifida and common mutations at the homocysteine metabolism pathway Clinical Genetics 57 230–231.
RC Barber GM Shaw EJ Lammer , KA Greer TA Biela , SW Lacey CR Wasserman , RH Finnell (1998) Lack of association between mutations in the folate receptor-alpha gene and spina bifida American Journal of Medical Genetics 76 310–317.
BM Blatter N Roelevelo GA Zielhuis RA Mullaart FJ Gabreels (1996) Spina bifida and parental occupation Epidemiology 7 188–193.
LD Botto Q Yang (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review American Journal of Epidemiology 151 862–877.
KS Brown LA Kluijtmans IS Young , H McNulty LE Mitchell JW Yarnell (2004) The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects Human Genetics 114 182–185.
SS Buccimazza CD Molteno TT Dunne DL Viljoen (1994) Prevalence of neural tube defects in Cape Town, South Africa Teratology 50 194–199.
A Chango N Emery-Fillon GP de Courcy D Lambert M Pfister , DS Rosenblatt JP Nicolas (2000) A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia Molecular Genetics and Metabolism 70 310–315.
S Chatkupt JH Skurnick M Jaggi K Mitruka , MR Koenigsberger WG Johnson (1994) Study of genetics, epidemiology, and vitamin usage in familial spina bifida in the United States in the 1990s Neurology 44 65–70.
J Chen MJ Stampfer J Ma J Selhub , MR Malinow CH Hennekens DJ Hunter (2001) Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction Atherosclerosis 154 667–672.
B Christensen L Arbour P Tran , D Leclerc N Sabbaghian , R Platt BM Gilfix DS Rosenblatt , RA Gravel P Forbes R Rozen (1999) Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects American Journal of Medical Genetics 84 151–157.
AL Cunha MH Hirata CA Kim , EM Guerra-Shinohara K Nonoyama RD Hirata (2002) Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects Clinica Chimica Acta 318 139–143.
AE Czeizel I Dudas (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation New England Journal of Medicine 327 1832–1835.
P De Marco MG Calevo A Moroni L Arata , E Merello RH Finnell H Zhu L Andreussi , A Cama V Capra (2002) Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. Journal of Human Genetics 47 319–324.
P De Marco MG Calevo A Moroni E Merello , A Raso RH Finnell H Zhu L Andreussi , A Cama V Capra (2003) Reduced folate carrier polymorphism (80A→G) and neural tube defects European Journal of Human Genetics 11 245–252.
AM Devlin EH Ling JM Peerson , S Fernando R Clarke , AD Smith CH Halsted (2000) Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia Human Molecular Genetics 9 2837–2844.
MT Doolin S Barbaux M McDonnell K Hoess AS Whitehead LE Mitchell (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida American Journal of Human Genetics 71 1222–1226.
MJ Edwards K Shiota MS Smith DA Walsh (1995) Hyperthermia and birth defects Reproductive Toxicology 9 411–425.
A Feix WC Winkelmayer C Eberle G Sunder-Plassmann M Fodinger (2004) Methionine synthase reductase MTRR 66A→G has no effect on total homocysteine, folate, and Vitamin B(12) concentrations in renal transplant patients Atherosclerosis 174 43–48.
P Frosst HJ Blom R Milos P Goyette , CA Sheppard RG Matthews , GJ Boers M den Heijer LA Kluijtmans LP van den Heuvel (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase Nature Genetics 10 111–113.
DJ Gaughan LA Kluijtmans S Barbaux D McMaster IS Young JW Yarnell , A Evans AS Whitehead (2001) The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations Atherosclerosis 157 451–456.
DJ Gaughan LA Kluijtmans S Barbaux D McMaster IS Young JW Yarnell , A Evans AS Whitehead (2002) Corrigendum to 'The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations' [ATH 157 (2001) 451–456] Atherosclerosis 167 373
J Geisel U Hubner M Bodis , H Schorr JP Knapp R Obeid W Herrmann (2003) The role of genetic factors in the development of hyperhomocysteinemia Clinical Chemistry and Laboratory Medicine 41 1427–1434.
JM Graham Jr MJ Edwards MJ Edwards (1998) Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans Teratology 58 209–221.
RM Gueant-Rodriguez C Rendeli B Namour , L Venuti A Romano , G Anello (2003) Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans Neuroscience Letters 344 189–192.
DL Harmon DC Shields JV Woodside , D McMaster JW Yarnell IS Young , K Peng B Shane , AE Evans AS Whitehead (1999) Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations Genetic Epidemiology 17 298–309.
SG Heil KJ Lievers GH Boers , P Verhoef M den Heijer FJ Trijbels HJ Blom (2000) Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans Molecular Genetics and Metabolism 71 511–519.
SG Heil NM van der Put FJ Trijbels , FJ Gabreels HJ Blom (1999) Molecular genetic analysis of human folate receptors in neural tube defects European Journal of Human Genetics 7 393–396.
SG Heil NM van der Put ET Waas , M den Heijer FJ Trijbels HJ Blom (2001) Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects? Molecular Genetics and Metabolism 73 164–172.
FA Hol NM van der Put MP Geurds , SG Heil FJ Trijbels , BC Hamel EC Mariman HJ Blom (1998) Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects Clinical Genetics 53 119–125.
N Horie H Aiba K Oguro , H Hojo K Takeishi (1995) Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5'-terminal regulatory region of the human gene for thymidylate synthase Cell Structure and Function 20 191–197.
PF Jacques AG Bostom J Selhub S Rich , ER Curtis JH Eckfeldt , RA Gravel R Rozen (2003) Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study Atherosclerosis 166 49–55.
WG Johnson ES Stenroos JR Spychala , S Chatkupt SX Ming S Buyske (2004) New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? American Journal of Medical Genetics 124A 339–345.
BA Kamen AK Smith (2004) A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro Advance Drug Delivery Reviews 56 1085–1097.
S Kaneda K Takeishi D Ayusawa , K Shimizu T Seno , S Altman (1987) Role in translation of a triple tandemly repeated sequence in the 5'-untranslated region of human thymidylate synthase mRNA Nucleic Acids Research 15 1259–1270.
C Kealey KS Brown JV Woodside , I Young L Murray , CA Boreham H McNulty JJ Strain J McPartlin JM Scott AS Whitehead (2005) A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations Human Genetics 116 347–353.
M Klerk KJ Lievers LA Kluijtmans , HJ Blom HM Den , EG Schouten FJ Kok P Verhoef (2003) The 2756A→G variant in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study Thrombosis Research 110 87–91.
LA Kluijtmans IS Young CA Boreham , L Murray D McMaster H McNulty JJ Strain J McPartlin JM Scott AS Whitehead (2003) Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults Blood 101 2483–2488.
MC Koch K Stegmann A Ziegler , B Schroter A Ermert (1998) Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population European Journal of Pediatrics 157 487–492.
JP Kraus J Oliveriusova J Sokolova , E Kraus C Vlcek , R de Franchis (1998) The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms Genomics 52 312–324.
EJ Lammer LE Sever GP Oakley Jr (1987) Teratogen update: valproic acid Teratology 35 465–473.
N Li GK Sood S Seetharam B Seetharam (1994) Polymorphism of human transcobalamin II: substitution of proline and/or glutamine residues by arginine Biochimica et Biophysica Acta 1219 515–520.
KJ Lievers LA Kluijtmans GH Boers , P Verhoef HM Den FJ Trijbels HJ Blom (2002) Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C→T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk Atherosclerosis 164 269–273.
KJ Lievers LA Kluijtmans SG Heil , GH Boers P Verhoef D van Oppenraay-Emmerzaal HM Den FJ Trijbels HJ Blom (2001) A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels European Journal of Human Genetics 9 583–589.
M Lucock I Daskalakis D Briggs , Z Yates M Levene (2000) 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 Molecular Genetics and Metabolism 70 27–44.
M Lucock I Daskalakis M Hinkins Z Yates (2001) An examination of polymorphic genes and folate metabolism in mothers affected by a spina bifida pregnancy Molecular Genetics and Metabolism 73 322–332.
JW Miller MI Ramos MG Garrod , MA Flynn R Green (2002) Transcobalamin II 775G→C polymorphism and indices of vitamin B12 status in healthy older adults Blood 100 718–720.
I Morin AM Devlin D Leclerc N Sabbaghian , CH Halsted R Finnell R Rozen (2003a) Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk Molecular Genetics and Metabolism 79 197–200.
I Morin R Platt I Weisberg , N Sabbaghian Q Wu , TA Garrow R Rozen (2003b) Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida American Journal of Medical Genetics 119A 172–176
E Mornet F Muller A Lenvoise-Furet AL Delezoide JY Col , B Simon-Bouy JL Serre (1997) Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects Human Genetics 100 512–514.
K Morrison C Papapetrou FA Hol EC Mariman , SA Lynch J Burn YH Edwards (1998) Susceptibility to spina bifida; an association study of five candidate genes Annals of Human Genetics 62 379–396.
TK Nilsson AK Borjel (2004) Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia? Clinical Biochemistry 37 224–229.
VB O'Leary JL Mills PN Kirke , A Parle-McDermott DA Swanson A Weiler (2003) Analysis of the human folate receptor beta gene for an association with neural tube defects Molecular Genetics and Metabolism 79 129–133.
VB O'Leary JL Mills F Pangilinan PN Kirke C Cox M Conley (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association Molecular Genetics and Metabolism 85 220–227.
H Olteanu T Munson R Banerjee (2002) Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase Biochemistry 41 13378–13385.
H Olteanu KR Wolthers AW Munro , NS Scrutton R Banerjee (2004) Kinetic and thermodynamic characterization of the common polymorphic variants of human methionine synthase reductase Biochemistry 43 1988–1997.
EI Park TA Garrow (1999) Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene. Journal of Biological Chemistry 274 7816–7824.
A Parle-McDermott JL Mills PN Kirke , VB O'Leary DA Swanson , F Pangilinan M Conley , AM Molloy C Cox JM Scott LC Brody (2003) Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects. Journal of Human Genetics 48 190–193.
JJ Pietrzyk M Bik-Multanowski (2003) 776C→G polymorphism of the transcobalamin II gene as a risk factor for spina bifida Molecular Genetics and Metabolism 80 364
I Quere V Paul C Rouillac , C Janbon J London , J Demaille P Kamoun , JL Dufier M Abitbol JF Chasse (1999) Spatial and temporal expression of the cystathionine beta-synthase gene during early human development Biochemical and Biophysical Research Communications 254 127–137.
D Ramsbottom JM Scott A Molloy DG Weir PN Kirke , JL Mills PM Gallagher , AS Whitehead (1997) Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects Clinical Genetics 51 39–42.
CL Relton CS Wilding PA Jonas , SA Lynch EJ Tawn , J Burn (2003) Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype Clinical Genetics 64 424–428.
CL Relton CS Wilding AJ Laffling , PA Jonas T Burgess K Binks , TE Janet J Burn (2004a) Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy Molecular Genetics and Metabolism 81 273–281.
CL Relton CS Wilding MS Pearce , AJ Laffling PA Jonas , SA Lynch EJ Tawn , J Burn (2004b) Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. Journal of Medical Genetics 41 256–260.
B Richter K Stegmann B Roper , I Boddeker ET Ngo MC Koch (2001) Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. Journal of Human Genetics 46 105–109.
SP Rothenberg MP da Costa JM Sequeira , J Cracco JL Roberts J Weedon EV Quadros (2004) Autoantibodies against folate receptors in women with a pregnancy complicated by a neural-tube defect New England Journal of Medicine 350 134–142.
GM Shaw EJ Lammer H Zhu MW Baker E Neri RH Finnell (2002) Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida American Journal of Medical Genetics 108 1–6.
GM Shaw EM Velie D Schaffer (1996) Risk of neural tube defect-affected pregnancies among obese women. Journal of the American Medical Association 275 1093–1096.
MC Speer J Nye D McLone G Worley EC Melvin KD Viles , A Franklin C Drake , J Mackey TM George (1999) Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group Clinical Genetics 56 142–144.
MC Speer G Worley JF Mackey E Melvin WJ Oakes TM George (1997) The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group Neurogenetics 1 149–150.
K Stegmann A Ziegler ET Ngo N Kohlschmidt B Schroter , A Ermert MC Koch (1999) Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects (NTD) American Journal of Medical Genetics 87 23–29.
PJ Stover LH Chen JR Suh , DM Stover K Keyomarsi B Shane (1997) Molecular cloning, characterization, and regulation of the human mitochondrial serine hydroxymethyltransferase gene. Journal of Biological Chemistry 272 1842–1848.
T Tamura EL Stokstad (1973) The availability of food folate in man British Journal of Haematology 25 513–532.
BN Trinh CN Ong GA Coetzee , MC Yu PW Laird (2002) Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels Human Genetics 111 299–302.
MY Tsai M Bignell F Yang , BG Welge KJ Graham , NQ Hanson (2000) Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine beta-synthase and A(2756)G of methionine synthase, with lowered plasma homocysteine levels Atherosclerosis 149 131–137.
NM van der Put TK Eskes , HJ Blom (1997a) Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis Quarterly Journal of Medicine 90 111–115.
NM van der Put F Gabreels EM Stevens JA Smeitink , FJ Trijbels TK Eskes , LP van den Heuvel HJ Blom (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? American Journal of Human Genetics 62 1044–1051.
NM van der Put RP Steegers-Theunissen P Frosst FJ Trijbels TK Eskes , LP van den Heuvel EC Mariman , M den Heyer R Rozen , HJ Blom (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida? Lancet 346 1070–1071.
NM van der Put EF van der Molen LA Kluijtmans , SG Heil JM Trijbels , TK Eskes D Van Oppenraaij-Emmerzaal R Banerjee , HJ Blom (1997b) Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease Quarterly Journal of Medicine 90 511–517.
Vitamin Study Research Group (1991) Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group Lancet 338 131–137.
KA Volcik SH Blanton GH Tyerman , ST Jong EJ Rott , TZ Page NK Romaine , H Northrup (2000) Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics American Journal of Medical Genetics 95 21–27.
ML Watkins KS Scanlon J Mulinare MJ Khoury (1996) Is maternal obesity a risk factor for anencephaly and spina bifida Epidemiology 7 507–512.
I Weisberg P Tran B Christensen , S Sibani R Rozen (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity Molecular Genetics and Metabolism 64 169–172.
IS Weisberg E Park KV Ballman P Berger M Nunn , DS Suh AP Breksa III TA Garrow R Rozen (2003) Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease Atherosclerosis 167 205–214.
MM Werler C Louik S Shapiro , AA Mitchell (1996) Prepregnant weight in relation to risk of neural tube defects? Journal of the American Medical Association 275 1089–1092.
A Wilson R Platt Q Wu , D Leclerc B Christensen , H Yang RA Gravel R Rozen (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida Molecular Genetics and Metabolism 67 317–323.
WC Winkelmayer S Skoupy C Eberle , M Fodinger G Sunder-Plassmann (2004) Effects of TCN2 776C→G on vitamin B, folate, and total homocysteine levels in kidney transplant patients Kidney International 65 1877–1881.
F Yang NQ Hanson K Schwichtenberg MY Tsai (2000) Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing American Journal of Medical Genetics 95 385–390.
H Zhu NJ Wicker GM Shaw , EJ Lammer K Hendricks L Suarez , M Canfield RH Finnell (2003) Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects Molecular Genetics and Metabolism 78 216–221.