-
1
-
-
33846953609
-
The National Down Syndrome Project: Design and implementation
-
Freeman SB, Allen EG, Oxford-Wright CL, et al. The National Down Syndrome Project: design and implementation. Public Health Rep. 2007;122(1):62-72.
-
(2007)
Public Health Rep
, vol.122
, Issue.1
, pp. 62-72
-
-
Freeman, S.B.1
Allen, E.G.2
Oxford-Wright, C.L.3
-
2
-
-
35448993902
-
Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: A study in a sample of the Colombian population
-
Ramírez NJ, Belalcázar HM, Yunis JJ, et al. Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: a study in a sample of the Colombian population. Biomedica. 2007;27(1):141-8.
-
(2007)
Biomedica
, vol.27
, Issue.1
, pp. 141-148
-
-
Ramírez, N.J.1
Belalcázar, H.M.2
Yunis, J.J.3
-
3
-
-
0032845227
-
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome
-
James SJ, Pogribna M, Pogribny IP, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr. 1999;70(4):495-501.
-
(1999)
Am J Clin Nutr
, vol.70
, Issue.4
, pp. 495-501
-
-
James, S.J.1
Pogribna, M.2
Pogribny, I.P.3
-
4
-
-
58149345081
-
Folate metabolism and the risk of Down syndrome
-
Patterson D. Folate metabolism and the risk of Down syndrome. Downs Syndr Res Pract. 2008;12(2)93-7.
-
(2008)
Downs Syndr Res Pract
, vol.12
, Issue.2
, pp. 93-97
-
-
Patterson, D.1
-
5
-
-
40749124471
-
Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: Maternal risk factors for Down syndrome in Brazil
-
Biselli JM, Goloni-Bertollo EM, Zampieri BL, et al. Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil. Genet Mol Res. 2008;7(1):33-42.
-
(2008)
Genet Mol Res
, vol.7
, Issue.1
, pp. 33-42
-
-
Biselli, J.M.1
Goloni-Bertollo, E.M.2
Zampieri, B.L.3
-
6
-
-
36549006514
-
MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children
-
Meguid NA, Dardir AA, Khass M, et al. MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children. Dis Markers. 2008;24(1):19-26.
-
(2008)
Dis Markers
, vol.24
, Issue.1
, pp. 19-26
-
-
Meguid, N.A.1
Dardir, A.A.2
Khass, M.3
-
7
-
-
56749097937
-
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring
-
Coppedè F, Migheli F, Bargagna S, et al. Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring. Neurosci Lett. 2009;449(1):15-9.
-
(2009)
Neurosci Lett
, vol.449
, Issue.1
, pp. 15-19
-
-
Coppedè, F.1
Migheli, F.2
Bargagna, S.3
-
8
-
-
67349133108
-
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome
-
Pozzi E, Vergani P, Dalprà L, et al. Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome. Am J Obstet Gynecol. 2009;200(6):636.e1-6.
-
(2009)
Am J Obstet Gynecol
, vol.200
, Issue.6
-
-
Pozzi, E.1
Vergani, P.2
Dalprà, L.3
-
9
-
-
41149145923
-
An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women
-
Stanislawska-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(3):289-95.
-
(2008)
Hum Genet
, vol.123
, Issue.3
, pp. 289-295
-
-
Stanislawska-Sachadyn, A.1
Brown, K.S.2
Mitchell, L.E.3
-
10
-
-
0942290719
-
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, et al. 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):339-45.
-
(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
-
11
-
-
34249903333
-
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, Mills JL, 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):1174-80.
-
(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
-
12
-
-
34147122502
-
A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users
-
Xu X, Gammon MD, Wetmur JG, et al. A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users. Am J Clin Nutr. 2007;85(4):1098-102.
-
(2007)
Am J Clin Nutr
, vol.85
, Issue.4
, pp. 1098-1102
-
-
Xu, X.1
Gammon, M.D.2
Wetmur, J.G.3
-
13
-
-
33845531853
-
Molecular genetic analysis of the human dihydrofolate reductase gene: Relation with plasma total homocysteine, serum and red blood cell folate levels
-
Gellekink H, Blom HJ, van der Linden IJ, den Heijer M. Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels. Eur J Hum Genet. 2007;15(1):103-9.
-
(2007)
Eur J Hum Genet
, vol.15
, Issue.1
, pp. 103-109
-
-
Gellekink, H.1
Blom, H.J.2
van der Linden, I.J.3
den Heijer, M.4
-
14
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
-
(1988)
Nucleic Acids Res
, vol.16
, Issue.3
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
15
-
-
43549120811
-
DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL
-
Dulucq S, St-Onge G, Gagné V, et al. DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL. Blood. 2008;111(7):3692-700.
-
(2008)
Blood
, vol.111
, Issue.7
, pp. 3692-3700
-
-
Dulucq, S.1
St-Onge, G.2
Gagné, V.3
-
16
-
-
0034880973
-
Amino acid quantitation in aqueous matrices via trap and release membrane introduction mass spectrometry: Homocysteine in human plasma
-
Haddad R, Mendes MA, Höehr NF, Eberlin MN. Amino acid quantitation in aqueous matrices via trap and release membrane introduction mass spectrometry: homocysteine in human plasma. Analyst. 2001;126(8):1212-5.
-
(2001)
Analyst
, vol.126
, Issue.8
, pp. 1212-1215
-
-
Haddad, R.1
Mendes, M.A.2
Höehr, N.F.3
Eberlin, M.N.4
-
17
-
-
33746190611
-
Alpha1D-adrenoceptor-induced relaxation on rat carotid artery is impaired during the endothelial dysfunction evoked in the early stages of hyperhomocysteinemia
-
de Andrade CR, Fukada SY, Olivon VC, et al. Alpha1D-adrenoceptor-induced relaxation on rat carotid artery is impaired during the endothelial dysfunction evoked in the early stages of hyperhomocysteinemia. Eur J Pharmacol. 2006;543(1-3):83-91.
-
(2006)
Eur J Pharmacol
, vol.543
, Issue.1-3
, pp. 83-91
-
-
de Andrade, C.R.1
Fukada, S.Y.2
Olivon, V.C.3
-
18
-
-
49049101852
-
Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry
-
Carvalho VM, Kok F. Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry. Anal Biochem. 2008;381(1):67-73.
-
(2008)
Anal Biochem
, vol.381
, Issue.1
, pp. 67-73
-
-
Carvalho, V.M.1
Kok, F.2
-
19
-
-
0035906327
-
The role of folic acid and Vitamin B12 in genomic stability of human cells
-
Fenech M. The role of folic acid and Vitamin B12 in genomic stability of human cells. Mutat Res. 2001;475(1-2):57-67.
-
(2001)
Mutat Res
, vol.475
, Issue.1-2
, pp. 57-67
-
-
Fenech, M.1
-
20
-
-
3042591660
-
Folate deficiency induces aneuploidy in human lymphocytes in vitro-evidence using cytokinesis-blocked cells and probes specific for chromosomes 17 and 21
-
Wang X, Thomas P, Xue J, Fenech M. Folate deficiency induces aneuploidy in human lymphocytes in vitro-evidence using cytokinesis-blocked cells and probes specific for chromosomes 17 and 21. Mutat Res. 2004;551(1-2):167-80.
-
(2004)
Mutat Res
, vol.551
, Issue.1-2
, pp. 167-180
-
-
Wang, X.1
Thomas, P.2
Xue, J.3
Fenech, M.4
-
21
-
-
25844516380
-
Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei
-
Beetstra S, Thomas P, Salisbury C, Turner J, Fenech M. Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei. Mutat Res. 2005;578(1-2):317-26.
-
(2005)
Mutat Res
, vol.578
, Issue.1-2
, pp. 317-326
-
-
Beetstra, S.1
Thomas, P.2
Salisbury, C.3
Turner, J.4
Fenech, M.5
-
23
-
-
33646240576
-
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women
-
Coppedè F, Marini G, Bargagna S, et al. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am J Med Genet A. 2006;140(10):1083-91.
-
(2006)
Am J Med Genet A
, vol.140
, Issue.10
, pp. 1083-1091
-
-
Coppedè, F.1
Marini, G.2
Bargagna, S.3
-
24
-
-
39049159580
-
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China
-
Wang SS, Qiao FY, Feng L, Lv JJ. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China. J Zhejiang Univ Sci B. 2008;9(2):93-9.
-
(2008)
J Zhejiang Univ Sci B
, vol.9
, Issue.2
, pp. 93-99
-
-
Wang, S.S.1
Qiao, F.Y.2
Feng, L.3
Lv, J.J.4
-
25
-
-
57349115474
-
A 19-base pair deletion polymorphism in dihydrofolate reductase is associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate
-
Kalmbach RD, Choumenkovitch SF, Troen AP, et al. A 19-base pair deletion polymorphism in dihydrofolate reductase is associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate. J Nutr. 2008;138(12):2323-7.
-
(2008)
J Nutr
, vol.138
, Issue.12
, pp. 2323-2327
-
-
Kalmbach, R.D.1
Choumenkovitch, S.F.2
Troen, A.P.3
-
26
-
-
34047248403
-
Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida
-
van der Linden IJ, Nguyen U, Heil SG, et al. Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida. Mol Genet Metab. 2007;91(1):98-103.
-
(2007)
Mol Genet Metab
, vol.91
, Issue.1
, pp. 98-103
-
-
van der Linden, I.J.1
Nguyen, U.2
Heil, S.G.3
-
27
-
-
0242585035
-
Frequency of Down's syndrome and neural tube defects in the same family
-
Barkai G, Arbuzova S, Berkenstadt M, Heifetz S, Cuckle H. Frequency of Down's syndrome and neural tube defects in the same family. Lancet. 2003;361(9366):1331-5.
-
(2003)
Lancet
, vol.361
, Issue.9366
, pp. 1331-1335
-
-
Barkai, G.1
Arbuzova, S.2
Berkenstadt, M.3
Heifetz, S.4
Cuckle, H.5
-
28
-
-
10744228304
-
Genetic determinants of folate and vitamin B12 metabolism: A common pathway in neural tube defect and Down syndrome?
-
Guéant JL, Guéant-Rodriguez RM, Anello G, et al. Genetic determinants of folate and vitamin B12 metabolism: a common pathway in neural tube defect and Down syndrome? Clin Chem Lab Med. 2003;41(11):1473-7.
-
(2003)
Clin Chem Lab Med
, vol.41
, Issue.11
, pp. 1473-1477
-
-
Guéant, J.L.1
Guéant-Rodriguez, R.M.2
Anello, G.3
-
29
-
-
0033882025
-
Cobalamin and folate evaluation: Measurement of methylmalonic acid and homocysteine vs vitamin B(12) and folate
-
Klee GG. Cobalamin and folate evaluation: measurement of methylmalonic acid and homocysteine vs vitamin B(12) and folate. Clin Chem. 2000;46(8 Pt 2):1277-83.
-
(2000)
Clin Chem
, vol.46
, Issue.8 PART 2
, pp. 1277-1283
-
-
Klee, G.G.1
-
30
-
-
0346780568
-
Red cell or serum folate? Results from the National Pathology Alliance benchmarking review
-
Galloway M, Rushworth L. Red cell or serum folate? Results from the National Pathology Alliance benchmarking review. J Clin Pathol. 2003;56(12):924-6.
-
(2003)
J Clin Pathol
, vol.56
, Issue.12
, pp. 924-926
-
-
Galloway, M.1
Rushworth, L.2
-
31
-
-
0028988598
-
Maternal-fetal folate status and neural tube defects: A case control study
-
Bunduki V, Dommergues M, Zittoun J, et al. Maternal-fetal folate status and neural tube defects: a case control study. Biol Neonate. 1995;67(3):154-9.
-
(1995)
Biol Neonate
, vol.67
, Issue.3
, pp. 154-159
-
-
Bunduki, V.1
Dommergues, M.2
Zittoun, J.3
-
32
-
-
0034432534
-
Iron status, serum folate and B(12) values in pregnancy and postpartum: Report from a study in Jordan
-
Kilbride J, Baker TG, Parapia LA, Khoury SA. Iron status, serum folate and B(12) values in pregnancy and postpartum: report from a study in Jordan. Ann Saudi Med. 2000;20(5-6):371-6.
-
(2000)
Ann Saudi Med
, vol.20
, Issue.5-6
, pp. 371-376
-
-
Kilbride, J.1
Baker, T.G.2
Parapia, L.A.3
Khoury, S.A.4
-
33
-
-
67650354893
-
Maternal serum vitamin B12, folate and homocysteine and the risk of neural tube defects in the offspring in a high-risk area of China
-
Zhang T, Xin R, Gu X, et al. 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):680-6.
-
(2009)
Public Health Nutr
, vol.12
, Issue.5
, pp. 680-686
-
-
Zhang, T.1
Xin, R.2
Gu, X.3
-
34
-
-
77951651289
-
677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta
-
Eser B, Cosar M, Eser O, et al. 677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. Turk Neurosurg. 2010;20(1):9-15.
-
(2010)
Turk Neurosurg
, vol.20
, Issue.1
, pp. 9-15
-
-
Eser, B.1
Cosar, M.2
Eser, O.3
|