-
1
-
-
0004246327
-
-
Churchill Livingstone Edinburgh, New York
-
Smith G.F., Berg J.M., Penrose L.S., Down's anomaly, 2nd ed., Churchill Livingstone, Edinburgh, New York, 1976
-
(1976)
Down's Anomaly 2nd Ed.
-
-
Smith, G.F.1
Berg, J.M.2
Penrose, L.S.3
-
2
-
-
0029837732
-
Down syndrome genetics: Unravelling a multifactorial disorder
-
5 Spec No
-
Hernandez D., Fisher E.M., Down syndrome genetics: unravelling a multifactorial disorder, Hum. Mol. Genet., 1996, 5 Spec No, 1411-1416
-
(1996)
Hum. Mol. Genet.
, pp. 1411-1416
-
-
Hernandez, D.1
Fisher, E.M.2
-
3
-
-
0025907673
-
Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group
-
1825697 1:STN:280:DyaK3M7lsF2ruw%3D%3D
-
S.E. Antonarakis 1991 Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group N. Engl. J. Med. 324 872 876 1825697 1:STN:280:DyaK3M7lsF2ruw%3D%3D
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 872-876
-
-
Antonarakis, S.E.1
-
5
-
-
84951507059
-
The relative effects of paternal and maternal age in mongolism
-
10.1007/BF02984413
-
L.S. Penrose 1933 The relative effects of paternal and maternal age in mongolism J. Genet. 27 219 224 10.1007/BF02984413
-
(1933)
J. Genet.
, vol.27
, pp. 219-224
-
-
Penrose, L.S.1
-
7
-
-
0037339996
-
Comparison of models of maternal age-specific risk for Down syndrome live births
-
DOI 10.1002/pd.568
-
J.K. Morris N.J. Wald D.E. Mutton E. Alberman 2003 Comparison of models of maternal age-specific risk for Down syndrome live births Prenat. Diagn. 23 252 258 12627430 10.1002/pd.568 1:STN:280:DC%2BD3s7htl2rtw%3D%3D (Pubitemid 36323689)
-
(2003)
Prenatal Diagnosis
, vol.23
, Issue.3
, pp. 252-258
-
-
Morris, J.K.1
Wald, N.J.2
Mutton, D.E.3
Alberman, E.4
-
8
-
-
0033086398
-
Risk factors for trisomy 21: Maternal cigarette smoking and oral contraceptive use in a population-based case-control study
-
11336457 1:STN:280:DC%2BD3MnjsFSmsA%3D%3D
-
Q. Yang S.L. Sherman T.J. Hassold K. Allran L. Taft D. Pettay, et al. 1999 Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study Genet. Med. 1 80 88 11336457 1:STN:280:DC%2BD3MnjsFSmsA%3D%3D
-
(1999)
Genet. Med.
, vol.1
, pp. 80-88
-
-
Yang, Q.1
Sherman, S.L.2
Hassold, T.J.3
Allran, K.4
Taft, L.5
Pettay, D.6
-
9
-
-
0035319804
-
To err (meiotically) is human: The genesis of human aneuploidy
-
DOI 10.1038/35066065
-
T. Hassold P. Hunt 2001 To err (meiotically) is human: the genesis of human aneuploidy Nat. Rev. Genet. 2 280 291 11283700 10.1038/35066065 1:CAS:528:DC%2BD3MXisVCqurY%3D (Pubitemid 33674776)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.4
, pp. 280-291
-
-
Hassold, T.1
Hunt, P.2
-
10
-
-
0032845227
-
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome
-
10500018 1:CAS:528:DyaK1MXmsFCgtbo%3D
-
S.J. James M. Pogribna I.P. Pogribny S. Melnyk R.J. Hine J.B. Gibson, et al. 1999 Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome Am. J. Clin. Nutr. 70 495 501 10500018 1:CAS:528:DyaK1MXmsFCgtbo%3D
-
(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.B.6
-
11
-
-
0035313224
-
Biological and clinical implications of the MTHFR C677T polymorphism
-
DOI 10.1016/S0165-6147(00)01675-8, PII S0165614700016758
-
P.M. Ueland S. Hustad J. Schneede H. Refsum S.E. Vollset 2001 Biological and clinical implications of the MTHFR C677T polymorphism Trends Pharmacol. Sci. 22 195 201 11282420 10.1016/S0165-6147(00)01675-8 1:CAS:528: DC%2BD3MXit1Wntr4%3D (Pubitemid 32244306)
-
(2001)
Trends in Pharmacological Sciences
, vol.22
, Issue.4
, pp. 195-201
-
-
Ueland, P.M.1
Hustad, S.2
Schneede, J.3
Refsum, H.4
Vollset, S.E.5
-
12
-
-
3142737186
-
Maternal metabolic phenotype and risk of Down syndrome: Beyond genetics
-
15103708 10.1002/ajmg.a.20648
-
S.J. James 2004 Maternal metabolic phenotype and risk of Down syndrome: beyond genetics Am. J. Med. Genet. A. 127A 1 4 15103708 10.1002/ajmg.a.20648
-
(2004)
Am. J. Med. Genet. A.
, vol.127
, pp. 1-4
-
-
James, S.J.1
-
13
-
-
0037117501
-
A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status
-
DOI 10.1073/pnas.062066299
-
S. Friso S.W. Choi D. Girelli J.B. Mason G.G. Dolnikowski P.J. Bagley, et al. 2002 A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status Proc. Natl. Acad. Sci. U. S. A. 99 5606 5611 11929966 10.1073/pnas.062066299 1:CAS:528:DC%2BD38XjtFKltLw%3D (Pubitemid 34411596)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.8
, pp. 5606-5611
-
-
Friso, S.1
Choi, S.-W.2
Girelli, D.3
Mason, J.B.4
Dolnikowski, G.G.5
Bagley, P.J.6
Olivieri, O.7
Jacques, P.F.8
Rosenberg, I.H.9
Corrocher, R.10
Selhub, J.11
-
14
-
-
0030979178
-
Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage
-
DOI 10.1073/pnas.94.7.3290
-
B.C. Blount M.M. Mack C.M. Wehr J.T. MacGregor R.A. Hiatt G. Wang, et al. 1997 Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage Proc. Natl. Acad. Sci. U. S. A. 94 3290 3295 9096386 10.1073/pnas.94.7.3290 1:CAS:528:DyaK2sXisVKgu70%3D (Pubitemid 27157304)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.7
, pp. 3290-3295
-
-
Blount, B.C.1
Mack, M.M.2
Wehr, C.M.3
MacGregor, J.T.4
Hiatt, R.A.5
Wang, G.6
Wickramasinghe, S.N.7
Everson, R.B.8
Ames, B.N.9
-
15
-
-
0033547440
-
Prevention of neural-tube defects with folic acid in China
-
DOI 10.1056/NEJM199911113412001
-
R.J. Berry Z. Li J.D. Erickson S. Li C.A. Moore H. Wang, et al. 1999 Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention N. Engl. J. Med. 341 1485 1490 10559448 10.1056/NEJM199911113412001 1:CAS:528:DyaK1MXnslGitr8%3D (Pubitemid 29526350)
-
(1999)
New England Journal of Medicine
, 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.C.9
Gindler, J.10
Hong, S.-X.11
Correa, A.12
-
16
-
-
0042825263
-
Prevalence of trisomy 21 following folic acid food fortification
-
12838547 10.1002/ajmg.a.20161
-
J.G. Ray C. Meier M.J. Vermeulen D.E. Cole P.R. Wyatt 2003 Prevalence of trisomy 21 following folic acid food fortification Am. J. Med. Genet. A. 120A 309 313 12838547 10.1002/ajmg.a.20161
-
(2003)
Am. J. Med. Genet. A.
, vol.120
, pp. 309-313
-
-
Ray, J.G.1
Meier, C.2
Vermeulen, M.J.3
Cole, D.E.4
Wyatt, P.R.5
-
17
-
-
33646119427
-
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
-
16575899
-
M.L. Martinez-Frias B. Perez L.R. Desviat M. Castro F. Leal L. Rodriguez, et al. 2006 Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome? Am. J. Med. Genet. A. 140 987 997 16575899
-
(2006)
Am. J. Med. Genet. A.
, vol.140
, pp. 987-997
-
-
Martinez-Frias, M.L.1
Perez, B.2
Desviat, L.R.3
Castro, M.4
Leal, F.5
Rodriguez, L.6
-
18
-
-
44449165550
-
The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome
-
DOI 10.1002/ajmg.a.32308
-
M.L. Martinez-Frias 2008 The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome Am. J. Med. Genet. A. 146A 1477 1482 18446861 10.1002/ajmg.a.32308 1:CAS:528: DC%2BD1cXnvFelt7k%3D (Pubitemid 351770215)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.11
, pp. 1477-1482
-
-
Martinez-Frias, M.L.1
-
19
-
-
1442341756
-
Mutations in the methylenetetrahydrofolate reductase gene and Down syndrome
-
12488908 10.1590/S0102-311X2002000600035
-
L.B. Grillo G.L. Acacio R. Barini W. Pinto Jr. C.S. Bertuzzo 2002 Mutations in the methylenetetrahydrofolate reductase gene and Down syndrome Cad. Saude Publica 18 1795 1797 12488908 10.1590/S0102-311X2002000600035
-
(2002)
Cad. Saude Publica
, vol.18
, pp. 1795-1797
-
-
Grillo, L.B.1
Acacio, G.L.2
Barini, R.3
Pinto Jr., W.4
Bertuzzo, C.S.5
-
20
-
-
35348953274
-
The relationship between polymorphism of gene involved in folate metabolism, homocysteine level and risk of Down syndrome
-
17922421 1:CAS:528:DC%2BD1cXhsVSrsLvK
-
W. Wang W. Xie X. Wang 2007 The relationship between polymorphism of gene involved in folate metabolism, homocysteine level and risk of Down syndrome Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24 533 537 17922421 1:CAS:528: DC%2BD1cXhsVSrsLvK
-
(2007)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.24
, pp. 533-537
-
-
Wang, W.1
Xie, W.2
Wang, X.3
-
21
-
-
31544435459
-
Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21
-
DOI 10.1002/pd.1296
-
G.L. Acacio R. Barini C.S. Bertuzzo E.C. Couto J.M. Annichino-Bizzacchi W.P. Junior 2005 Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21 Prenat. Diagn. 25 1196 1199 16353284 10.1002/pd.1296 1:CAS:528:DC%2BD28XhsFeiur4%3D (Pubitemid 43164739)
-
(2005)
Prenatal Diagnosis
, vol.25
, Issue.13
, pp. 1196-1199
-
-
Acacio, G.L.1
Barini, R.2
Bertuzzo, C.S.3
Couto, E.C.4
Annichino-Bizzacchi, J.M.5
Junior, W.P.6
-
22
-
-
36148957850
-
Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: A meta-analysis
-
DOI 10.1007/s10038-007-0202-x
-
E. Zintzaras 2007 Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis J. Hum. Genet. 52 943 953 17934692 10.1007/s10038-007-0202-x 1:CAS:528:DC%2BD2sXht1ejsLfE (Pubitemid 350112491)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.11
, pp. 943-953
-
-
Zintzaras, E.1
-
23
-
-
40749124471
-
Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: Maternal risk factors for Down syndrome in Brazil
-
18273817 10.4238/vol7-1gmr388 1:CAS:528:DC%2BD1cXisVant7k%3D
-
J.M. Biselli E.M. Goloni-Bertollo B.L. Zampieri R. Haddad M.N. Eberlin E.C. Pavarino-Bertelli 2008 Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil Genet. Mol. Res. 7 33 42 18273817 10.4238/vol7-1gmr388 1:CAS:528:DC%2BD1cXisVant7k%3D
-
(2008)
Genet. Mol. Res.
, vol.7
, pp. 33-42
-
-
Biselli, J.M.1
Goloni-Bertollo, E.M.2
Zampieri, B.L.3
Haddad, R.4
Eberlin, M.N.5
Pavarino-Bertelli, E.C.6
-
24
-
-
0036113846
-
Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome
-
12032275 1:CAS:528:DC%2BD38XkvVyntbc%3D
-
B. Chadefaux-Vekemans M. Coude F. Muller J.F. Oury A. Chabli J. Jais, et al. 2002 Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome Pediatr. Res. 51 766 767 12032275 1:CAS:528:DC%2BD38XkvVyntbc%3D
-
(2002)
Pediatr. Res.
, vol.51
, pp. 766-767
-
-
Chadefaux-Vekemans, B.1
Coude, M.2
Muller, F.3
Oury, J.F.4
Chabli, A.5
Jais, J.6
-
25
-
-
36549006514
-
MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children
-
18057532 1:CAS:528:DC%2BD1cXht1eitro%3D
-
N.A. Meguid A.A. Dardir M. Khass L.E. Hossieny A. Ezzat M.K. El Awady 2008 MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children Dis. Markers 24 19 26 18057532 1:CAS:528:DC%2BD1cXht1eitro%3D
-
(2008)
Dis. Markers
, vol.24
, pp. 19-26
-
-
Meguid, N.A.1
Dardir, A.A.2
Khass, M.3
Hossieny, L.E.4
Ezzat, A.5
El Awady, M.K.6
-
26
-
-
0033846999
-
Polymorphisms in genes involved in folate metabolism as maternal risk factors for down syndrome
-
DOI 10.1086/303055
-
C.A. Hobbs S.L. Sherman P. Yi S.E. Hopkins C.P. Torfs R.J. Hine, et al. 2000 Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome Am. J. Hum. Genet. 67 623 630 10930360 10.1086/303055 1:CAS:528:DC%2BD3cXms1Wgsbg%3D (Pubitemid 30659593)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.3
, 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
-
27
-
-
0029049553
-
A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
-
7647779 10.1038/ng0595-111 1:CAS:528:DyaK2MXlsVymt78%3D
-
P. Frosst H.J. Blom R. Milos P. Goyette C.A. Sheppard R.G. Matthews, et al. 1995 A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase Nat. Genet. 10 111 113 7647779 10.1038/ng0595-111 1:CAS:528:DyaK2MXlsVymt78%3D
-
(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
-
28
-
-
0031971515
-
A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
-
DOI 10.1086/301825
-
N.M. van der Put F. Gabreels E.M. Stevens J.A. Smeitink F.J. Trijbels T.K. Eskes, et al. 1998 A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neuraltube defects? Am. J. Hum. Genet. 62 1044 1051 9545395 10.1086/301825 (Pubitemid 28199004)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.5
, pp. 1044-1051
-
-
Van Der Put, N.M.J.1
Gabreels, F.2
Stevens, E.M.B.3
Smeitink, J.A.M.4
Trijbels, F.J.M.5
Eskes, T.K.A.B.6
Van Den Heuvel, L.P.7
Blom, H.J.8
-
29
-
-
2942700001
-
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation
-
15173232 10.1136/jmg.2003.017244 1:CAS:528:DC%2BD2cXlsl2gsbw%3D
-
R. Castro I. Rivera P. Ravasco M.E. Camilo C. Jakobs H.J. Blom, et al. 2004 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation J. Med. Genet. 41 454 458 15173232 10.1136/jmg.2003.017244 1:CAS:528:DC%2BD2cXlsl2gsbw%3D
-
(2004)
J. Med. Genet.
, vol.41
, pp. 454-458
-
-
Castro, R.1
Rivera, I.2
Ravasco, P.3
Camilo, M.E.4
Jakobs, C.5
Blom, H.J.6
-
30
-
-
0036682379
-
Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors
-
12154064 1:CAS:528:DC%2BD38XlvFeksrY%3D
-
M.F. Paz S. Avila M.F. Fraga M. Pollan G. Capella M.A. Peinado, et al. 2002 Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors Cancer Res. 62 4519 4524 12154064 1:CAS:528:DC%2BD38XlvFeksrY%3D
-
(2002)
Cancer Res.
, vol.62
, pp. 4519-4524
-
-
Paz, M.F.1
Avila, S.2
Fraga, M.F.3
Pollan, M.4
Capella, G.5
Peinado, M.A.6
-
31
-
-
0032817585
-
Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine β-synthase gene, and pyridoxal-5'-phosphate concentration
-
DOI 10.1006/mgme.1999.2874
-
M.Y. Tsai F. Yang M. Bignell O. Aras N.Q. Hanson 1999 Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5-phosphate concentration Mol. Genet. Metab. 67 352 356 10444346 10.1006/mgme.1999.2874 1:CAS:528:DyaK1MXltVCgur4%3D (Pubitemid 29406799)
-
(1999)
Molecular Genetics and Metabolism
, vol.67
, Issue.4
, pp. 352-356
-
-
Tsai, M.Y.1
Yang, F.2
Bignell, M.3
Aras, O.4
Hanson, N.Q.5
-
32
-
-
0033805360
-
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
-
DOI 10.1006/mgme.2000.3034
-
A. Chango N. Emery-Fillon G.P. de Courcy D. Lambert M. Pfister D.S. Rosenblatt, et al. 2000 A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia Mol. Genet. Metab. 70 310 315 10993718 10.1006/mgme.2000.3034 1:CAS:528: DC%2BD3cXmsFemurc%3D (Pubitemid 30736432)
-
(2000)
Molecular Genetics and Metabolism
, vol.70
, Issue.4
, pp. 310-315
-
-
Chango, A.1
Emery-Fillon, N.2
De Courcy, G.P.3
Lambert, D.4
Pfister, M.5
Rosenblatt, D.S.6
Nicolas, J.-P.7
-
33
-
-
0031437950
-
The case for epigenetic effects on centromere identity and function
-
DOI 10.1016/S0168-9525(97)01298-5
-
G.H. Karpen R.C. Allshire 1997 The case for epigenetic effects on centromere identity and function Trends Genet. 13 489 496 9433139 10.1016/S0168-9525(97)01298-5 1:CAS:528:DyaK1cXhsVCrtw%3D%3D (Pubitemid 28004923)
-
(1997)
Trends in Genetics
, vol.13
, Issue.12
, pp. 489-496
-
-
Karpen, G.H.1
Allshire, R.C.2
-
34
-
-
0030867514
-
DNA demethylation and pericentromeric rearrangements of chromosome 1
-
9330620 1:CAS:528:DyaK2sXlt1GntLo%3D
-
W. Ji R. Hernandez X.Y. Zhang G.Z. Qu A. Frady M. Varela, et al. 1997 DNA demethylation and pericentromeric rearrangements of chromosome 1 Mutat. Res. 379 33 41 9330620 1:CAS:528:DyaK2sXlt1GntLo%3D
-
(1997)
Mutat. Res.
, vol.379
, pp. 33-41
-
-
Ji, W.1
Hernandez, R.2
Zhang, X.Y.3
Qu, G.Z.4
Frady, A.5
Varela, M.6
-
35
-
-
0037079894
-
MTRR and MTHFR polymorphism: Link to Down syndrome?
-
DOI 10.1002/ajmg.10121
-
V.B. O'Leary A. Parle-McDermott A.M. Molloy P.N. Kirke Z. Johnson M. Conley, et al. 2002 MTRR and MTHFR polymorphism: link to Down syndrome? Am. J. Med. Genet. 107 151 155 11807890 10.1002/ajmg.10121 (Pubitemid 34038597)
-
(2002)
American Journal of Medical Genetics
, vol.107
, Issue.2
, pp. 151-155
-
-
O'Leary, V.B.1
Parle-McDermott, A.2
Molloy, A.M.3
Kirke, P.N.4
Johnson, Z.5
Conley, M.6
Scott, J.M.7
Mills, J.L.8
-
36
-
-
0036021040
-
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy
-
DOI 10.1038/sj.ejhg.5200819
-
L. Stuppia V. Gatta A.R. Gaspari I. Antonucci E. Morizio G. Calabrese, et al. 2002 C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy Eur. J. Hum. Genet. 10 388 390 12080391 10.1038/sj.ejhg.5200819 1:CAS:528:DC%2BD38Xls1OrsLk%3D (Pubitemid 34812295)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.6
, 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
-
37
-
-
3142777011
-
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
-
15103709 10.1002/ajmg.a.20432
-
K. Boduroglu Y. Alanay B. Koldan E. Tuncbilek 2004 Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women Am. J. Med. Genet. A. 127A 5 10 15103709 10.1002/ajmg.a.20432
-
(2004)
Am. J. Med. Genet. A.
, vol.127
, pp. 5-10
-
-
Boduroglu, K.1
Alanay, Y.2
Koldan, B.3
Tuncbilek, E.4
-
38
-
-
25444482825
-
No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers
-
DOI 10.1079/BJN20051490
-
A. Chango N. Fillon-Emery C. Mircher H. Blehaut D. Lambert B. Herbeth, et al. 2005 No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers Br. J. Nutr. 94 166 169 16115349 10.1079/BJN20051490 1:CAS:528:DC%2BD2MXhtFSrs77P (Pubitemid 41357786)
-
(2005)
British Journal of Nutrition
, vol.94
, Issue.2
, pp. 166-169
-
-
Chango, A.1
Fillon-Emery, N.2
Mircher, C.3
Blehaut, H.4
Lambert, D.5
Herbeth, B.6
James, S.J.7
Rethore, M.-O.8
Nicolas, J.P.9
-
40
-
-
33646449190
-
MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
-
16489479 10.1007/s10038-005-0356-3 1:CAS:528:DC%2BD28XjvVWntr8%3D
-
A.K. Rai S. Singh S. Mehta A. Kumar L.K. Pandey R. Raman 2006 MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers J. Hum. Genet. 51 278 283 16489479 10.1007/s10038-005-0356-3 1:CAS:528:DC%2BD28XjvVWntr8%3D
-
(2006)
J. Hum. Genet.
, vol.51
, pp. 278-283
-
-
Rai, A.K.1
Singh, S.2
Mehta, S.3
Kumar, A.4
Pandey, L.K.5
Raman, R.6
-
42
-
-
33747873426
-
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring
-
16845273 1:CAS:528:DC%2BD28XmvFaltLo%3D
-
I. Scala B. Granese M. Sellitto S. Salome A. Sammartino A. Pepe, et al. 2006 Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring Genet. Med. 8 409 416 16845273 1:CAS:528:DC%2BD28XmvFaltLo%3D
-
(2006)
Genet. Med.
, vol.8
, pp. 409-416
-
-
Scala, I.1
Granese, B.2
Sellitto, M.3
Salome, S.4
Sammartino, A.5
Pepe, A.6
-
43
-
-
39049159580
-
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China
-
DOI 10.1631/jzus.B0710599
-
S.S. Wang F.Y. Qiao L. Feng J.J. Lv 2008 Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China J. Zhejiang Univ. Sci. B 9 93 99 18257130 10.1631/jzus.B0710599 1:CAS:528:DC%2BD1cXjtlyhurc%3D (Pubitemid 351234294)
-
(2008)
Journal of Zhejiang University: Science B
, vol.9
, Issue.2
, pp. 93-99
-
-
Wang, S.-S.1
Qiao, F.-Y.2
Feng, L.3
Lv, J.-J.4
|