-
1
-
-
0034827775
-
Hyperhomocysteinemia is related to residual glomerular filtration and foliate, but not to methylenetetrahydrofolate-reductase and methionine synthase polymorphisms, in supplemented end-stage renal disease patients undergoing hemodialysis
-
Anwar A, Guéant JL, Abdelmouttaleb I, Adjalla C, Gérard P, Lemoel G, Erraes N, Moutabarrek A, Namour F. 2001. Hyperhomocysteinemia is related to residual glomerular filtration and foliate, but not to methylenetetrahydrofolate-reductase and methionine synthase polymorphisms, in supplemented end-stage renal disease patients undergoing hemodialysis. Clin Chem Lab Med 39:747-752.
-
(2001)
Clin Chem Lab Med
, vol.39
, pp. 747-752
-
-
Anwar, A.1
Guéant, J.L.2
Abdelmouttaleb, I.3
Adjalla, C.4
Gérard, P.5
Lemoel, G.6
Erraes, N.7
Moutabarrek, A.8
Namour, F.9
-
2
-
-
0032497941
-
Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: The result of a meta-analysis
-
Brattström L, Wilcken DE, Ohrvik J, Brudin L. 1998. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: The result of a meta-analysis. Circulation 98:2520-2526.
-
(1998)
Circulation
, vol.98
, pp. 2520-2526
-
-
Brattström, L.1
Wilcken, D.E.2
Ohrvik, J.3
Brudin, L.4
-
3
-
-
0036113846
-
Methylenetetrahydrofolate reductase polymorphisms in the etiology of Down syndrome
-
Chadefaux-Vekemans B, Coude M, Muller F, Oury J, Cali A, Kamoun P. 2002. Methylenetetrahydrofolate reductase polymorphisms in the etiology of Down syndrome. Pediatr Res 51:766-767.
-
(2002)
Pediatr Res
, vol.51
, pp. 766-767
-
-
Chadefaux-Vekemans, B.1
Coude, M.2
Muller, F.3
Oury, J.4
Cali, A.5
Kamoun, P.6
-
4
-
-
0031030585
-
Human methionine synthase, cDNA cloning, gene localization and expression
-
Chen LH, Liu ML, Hwang HY, Chen LS, Korenberg J, Shane B. 1997. Human methionine synthase, cDNA cloning, gene localization and expression. J Biol Chem 272:3628-3634.
-
(1997)
J Biol Chem
, vol.272
, pp. 3628-3634
-
-
Chen, L.H.1
Liu, M.L.2
Hwang, H.Y.3
Chen, L.S.4
Korenberg, J.5
Shane, B.6
-
5
-
-
0032937206
-
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, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R. 1999. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 84:151-157.
-
(1999)
Am J Med Genet
, vol.84
, pp. 151-157
-
-
Christensen, B.1
Arbour, L.2
Tran, P.3
Leclerc, D.4
Sabbaghian, N.5
Platt, R.6
Gilfix, B.M.7
Rosenblatt, D.S.8
Gravel, R.A.9
Forbes, P.10
Rozen, R.11
-
6
-
-
4143088796
-
Spina bifida, 677→C mutation, and role of folate
-
De Franchis R, Sebastio G, Mandato C, Andria G, Mastroiacovo P. 1995. Spina bifida, 677→C mutation, and role of folate. Lancet 346:1703.
-
(1995)
Lancet
, vol.346
, pp. 1703
-
-
De Franchis, R.1
Sebastio, G.2
Mandato, C.3
Andria, G.4
Mastroiacovo, P.5
-
7
-
-
0029049553
-
A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
-
Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuvel LP, Rozen R. 1995. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113.
-
(1995)
Nat Genet
, vol.10
, pp. 111-113
-
-
Frosst, P.1
Blom, H.J.2
Milos, R.3
Goyette, P.4
Sheppard, C.A.5
Matthews, R.G.6
Boers, G.J.H.7
Den Heijer, M.8
Kluijtmans, L.A.J.9
Van den Heuvel, L.P.10
Rozen, R.11
-
8
-
-
0017353243
-
Leucocyte ultrastructure and folate metabolism in Down's syndrome
-
Gericke GS, Hesseling PB, Brink S, Tiedt FC. 1977. Leucocyte ultrastructure and folate metabolism in Down's syndrome. S Afr Med J 51:369-374.
-
(1977)
S Afr Med J
, vol.51
, pp. 369-374
-
-
Gericke, G.S.1
Hesseling, P.B.2
Brink, S.3
Tiedt, F.C.4
-
9
-
-
0034920304
-
Maternal folate polymorphisms and the etiology of human nondisjunction
-
Hassold TJ, Burrage LC, Chan ER, Judis LM, Schwartz S, James SJ, Jacobs PA, Thomas NS. 2001. Maternal folate polymorphisms and the etiology of human nondisjunction. Am J Hum Genet 69:434-439.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 434-439
-
-
Hassold, T.J.1
Burrage, L.C.2
Chan, E.R.3
Judis, L.M.4
Schwartz, S.5
James, S.J.6
Jacobs, P.A.7
Thomas, N.S.8
-
10
-
-
0033846999
-
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
-
Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ. 2000. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67:623-630.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 623-630
-
-
Hobbs, C.A.1
Sherman, S.L.2
Yi, P.3
Hopkins, S.E.4
Torfs, C.P.5
Hine, R.J.6
Pogribna, M.7
Rozen, R.8
James, S.J.9
-
11
-
-
0042601406
-
Folate deficiency and the molecular determinants of chromosomal instability: Possible link to Down syndrome and meiotic nondisjunction
-
Massaro E, editor. Humana Press
-
James SJ, Hobbs CA. 2002. Folate deficiency and the molecular determinants of chromosomal instability: Possible link to Down syndrome and meiotic nondisjunction. In: Massaro E, editor. Folate and Human Development. Humana Press, pp 43-70.
-
(2002)
Folate and Human Development
, pp. 43-70
-
-
James, S.J.1
Hobbs, C.A.2
-
12
-
-
0032845227
-
Abnormal folate metabolism and methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome
-
James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JE, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW. 1999. Abnormal folate metabolism and methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 70:495-501.
-
(1999)
Am J Clin Nutr
, vol.70
, pp. 495-501
-
-
James, S.J.1
Pogribna, M.2
Pogribny, I.P.3
Melnyk, S.4
Hine, R.J.5
Gibson, J.E.6
Yi, P.7
Tafoya, D.L.8
Swenson, D.H.9
Wilson, V.L.10
Gaylor, D.W.11
-
13
-
-
10544249877
-
Human methionine synthase: cDNA cloning, chromosomal localisation, and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
-
Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA. 1996. Human methionine synthase: cDNA cloning, chromosomal localisation, and identification of mutations in patients of the cblG complementation group of folate/ cobalamin disorders. Hum Mol Genet 5:1867-1874.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1867-1874
-
-
Leclerc, D.1
Campeau, E.2
Goyette, P.3
Adjalla, C.E.4
Christensen, B.5
Ross, M.6
Eydoux, P.7
Rosenblatt, D.S.8
Rozen, R.9
Gravel, R.A.10
-
14
-
-
0022484850
-
Metabolism of monocarbons and trisomy 21: Sensitivity to methotrexate
-
Lejeune J, Rethore MO, deBlois MC, Maunoury-Burolla C, Mir M, Nicolle L, Borowy F, Borhi E, Recan D. 1986. Metabolism of monocarbons and trisomy 21: Sensitivity to methotrexate. Ann Genet 29:16-19.
-
(1986)
Ann Genet
, vol.29
, pp. 16-19
-
-
Lejeune, J.1
Rethore, M.O.2
DeBlois, M.C.3
Maunoury-Burolla, C.4
Mir, M.5
Nicolle, L.6
Borowy, F.7
Borhi, E.8
Recan, D.9
-
15
-
-
0031425426
-
Lack of check-point control at the metaphase/anaphase transition: A mechanism of meiotic nondisjunction in mammalian females
-
Lemaire-Adkins R, Radke K, Hunt PA. 1997. Lack of check-point control at the metaphase/anaphase transition: A mechanism of meiotic nondisjunction in mammalian females. J Cell Biol 139:1611-1619.
-
(1997)
J Cell Biol
, vol.139
, pp. 1611-1619
-
-
Lemaire-Adkins, R.1
Radke, K.2
Hunt, P.A.3
-
16
-
-
0030942667
-
Spontaneous genetic damage in man: Evaluation of interindividual variability, relationship among markers of damage and influence of nutritional status
-
MacGregor JT, Wher C, Hiatt RA, Peters B, Tucker JD, Langlois RG, Jacob RA, Jensen RH, Yager JW, Shigenaga MK, Frei B, Eynon BP, Ames BN. 1997. Spontaneous genetic damage in man: Evaluation of interindividual variability, relationship among markers of damage and influence of nutritional status. Mutat Res 377:125-135.
-
(1997)
Mutat Res
, vol.377
, pp. 125-135
-
-
MacGregor, J.T.1
Wher, C.2
Hiatt, R.A.3
Peters, B.4
Tucker, J.D.5
Langlois, R.G.6
Jacob, R.A.7
Jensen, R.H.8
Yager, J.W.9
Shigenaga, M.K.10
Frei, B.11
Eynon, B.P.12
Ames, B.N.13
-
17
-
-
0035864638
-
Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: Impact on plasma homocysteine levels and development of coronary artery disease
-
Meisel C, Carcorbi I, Gerloff T, Stangl V, Laule M, Müller JM, Wernecker KD, Baumann G, Roots I, Stangl K. 2001. Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: Impact on plasma homocysteine levels and development of coronary artery disease. Atherosclerosis 154:651-658.
-
(2001)
Atherosclerosis
, vol.154
, pp. 651-658
-
-
Meisel, C.1
Carcorbi, I.2
Gerloff, T.3
Stangl, V.4
Laule, M.5
Müller, J.M.6
Wernecker, K.D.7
Baumann, G.8
Roots, I.9
Stangl, K.10
-
18
-
-
0037079894
-
MTRR and MTHFR polymorphisms: Link to Down syndrome?
-
O'Leary VB, Parle-McDermott AP, Molloy AM, Kirke PN, Johnson Z, Conley M, Scott JM, Mills JL. 2002. MTRR and MTHFR polymorphisms: Link to Down syndrome? Am J Med Genet 107:151-155.
-
(2002)
Am J Med Genet
, vol.107
, pp. 151-155
-
-
O'Leary, V.B.1
Parle-McDermott, A.P.2
Molloy, A.M.3
Kirke, P.N.4
Johnson, Z.5
Conley, M.6
Scott, J.M.7
Mills, J.L.8
-
19
-
-
0034969415
-
Homocysteine metabolism in children with Down syndrome
-
Pogribna M, Melnyk S, Pogribny I, Chango A, Yi P, James SJ. 2001. Homocysteine metabolism in children with Down syndrome. Am J Hum Genet 69:88-95.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 88-95
-
-
Pogribna, M.1
Melnyk, S.2
Pogribny, I.3
Chango, A.4
Yi, P.5
James, S.J.6
-
20
-
-
0032853101
-
Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome
-
Rosenblatt DS. 1999. Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome. Am J Clin Nutr 70:429-430.
-
(1999)
Am J Clin Nutr
, vol.70
, pp. 429-430
-
-
Rosenblatt, D.S.1
-
21
-
-
0036021040
-
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy
-
Stuppia L, Gatta V, Gaspari AR, Antonucci I, Morizio E, Calabrese G, Palka G. 2002. C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet 10:388-390.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 388-390
-
-
Stuppia, L.1
Gatta, V.2
Gaspari, A.R.3
Antonucci, I.4
Morizio, E.5
Calabrese, G.6
Palka, G.7
-
22
-
-
0035313224
-
Biological and clinical implications of the MTHFR C677T polymorphism
-
Ueland PM, Hustad S, Schneede J, Refsum H, Vollset SE. 2001. Biological and clinical implications of the MTHFR C677T polymorphism. Trends Pharmacol Sci 22:195-201.
-
(2001)
Trends Pharmacol Sci
, vol.22
, pp. 195-201
-
-
Ueland, P.M.1
Hustad, S.2
Schneede, J.3
Refsum, H.4
Vollset, S.E.5
-
23
-
-
0030804226
-
Sequence analysis of the coding region of human methionine synthase: Relevance to hyperhomocysteineaemia in neural-tube defects and vascular disease
-
van der Put NM, van der Molen EF, Kluijtmans LA, Heil SG, Trijbels JM, Eskes TK, Van Oppenraaij-Emmerzaal D, Banerjee R, Blom HJ. 1997. Sequence analysis of the coding region of human methionine synthase: Relevance to hyperhomocysteineaemia in neural-tube defects and vascular disease. Q J Med 90:511-517.
-
(1997)
Q J Med
, vol.90
, pp. 511-517
-
-
Van der Put, N.M.1
Van der Molen, E.F.2
Kluijtmans, L.A.3
Heil, S.G.4
Trijbels, J.M.5
Eskes, T.K.6
Van Oppenraaij-Emmerzaal, D.7
Banerjee, R.8
Blom, H.J.9
-
24
-
-
0031971515
-
A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
-
van der Put NM, Gabreëls F, Stevens E, Smeitink JA, Trijbels FJ, Eskes TK, van deen Heuvel LP, Blom HJ. 1998. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 62:1044-1051.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1044-1051
-
-
Van der Put, N.M.1
Gabreëls, F.2
Stevens, E.3
Smeitink, J.A.4
Trijbels, F.J.5
Eskes, T.K.6
Van deen Heuvel, L.P.7
Blom, H.J.8
|