-
1
-
-
0033927120
-
Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism
-
Barbaux S, Kluijtmans LA, Whitehead AS. 2000. Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism. Clin Chem 46:907-912.
-
(2000)
Clin Chem
, vol.46
, pp. 907-912
-
-
Barbaux, S.1
Kluijtmans, L.A.2
Whitehead, A.S.3
-
2
-
-
0029959091
-
Periconceptional multivitamin use and the occurrence of conotruncal heart defects: Results from a population-based, case-control study
-
Botto LD, Khoury MJ, Mulinare J, et al. 1996. Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics 98:911-917.
-
(1996)
Pediatrics
, vol.98
, pp. 911-917
-
-
Botto, L.D.1
Khoury, M.J.2
Mulinare, J.3
-
3
-
-
0031817447
-
Exploring gene-gene interactions in the etiology of neural tube defects
-
Botto LD, Mastroiacovo P. 1998. Exploring gene-gene interactions in the etiology of neural tube defects. Clin Genet 53:456-459.
-
(1998)
Clin Genet
, vol.53
, pp. 456-459
-
-
Botto, L.D.1
Mastroiacovo, P.2
-
4
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
Botto LD, May K, Fernhoff PM, et al. 2003. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101-107.
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
-
5
-
-
0034190437
-
Occurrence of congenital heart defects in relation to maternal multivitamin use
-
Botto LD, Mulinare J, Erickson JD. 2000. Occurrence of congenital heart defects in relation to maternal multivitamin use. Am J Epidemiol 151:878-884.
-
(2000)
Am J Epidemiol
, vol.151
, pp. 878-884
-
-
Botto, L.D.1
Mulinare, J.2
Erickson, J.D.3
-
6
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
Carlson C, Sirotkin H, Pandita R, et al. 1997. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61:620-629.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
-
7
-
-
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, et al. 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
-
8
-
-
0029965863
-
Reduction of urinary tract and cardiovascular defects by periconceptional multivitamin supplementation
-
Czeizel AE. 1996. Reduction of urinary tract and cardiovascular defects by periconceptional multivitamin supplementation. Am J Med Genet 62:179-183.
-
(1996)
Am J Med Genet
, vol.62
, pp. 179-183
-
-
Czeizel, A.E.1
-
9
-
-
0027080461
-
Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
-
Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
-
(1992)
N Engl J Med
, vol.327
, pp. 1832-1835
-
-
Czeizel, A.E.1
Dudas, I.2
-
10
-
-
0027359791
-
Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases
-
Desmaze C, Prieur M, Amblard F, et al. 1993. Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am J Hum Genet 53:1239-1249.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1239-1249
-
-
Desmaze, C.1
Prieur, M.2
Amblard, F.3
-
11
-
-
33746301094
-
Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome
-
Driscoll DA, Boland T, Emanuel BS, et al. 2006. Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome. Cleft Palate Craniofac J 43:435-441.
-
(2006)
Cleft Palate Craniofac J
, vol.43
, pp. 435-441
-
-
Driscoll, D.A.1
Boland, T.2
Emanuel, B.S.3
-
12
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
-
Driscoll DA, Salvin J, Sellinger B, et al. 1993. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813-817.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
-
13
-
-
0029049553
-
A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
-
Frosst P, Blom HJ, Milos R, et al. 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
-
14
-
-
28444441978
-
DiGeorge syndrome: New insights
-
ix-x
-
Goldmuntz E. 2005. DiGeorge syndrome: new insights. Clin Perinatol 32:963-978, ix-x.
-
(2005)
Clin Perinatol
, vol.32
, pp. 963-978
-
-
Goldmuntz, E.1
-
15
-
-
17444434198
-
Frequency of 22q11 deletions in patients with conotruncal defects
-
Goldmuntz E, Clark BJ, Mitchell LE, et al. 1998. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492-498.
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 492-498
-
-
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
-
16
-
-
34250317669
-
Noninherited risk factors and congenital cardiovascular defects: Current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
-
Jenkins KJ, Correa A, Feinstein JA, et al. 2007. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115:2995-3014.
-
(2007)
Circulation
, vol.115
, pp. 2995-3014
-
-
Jenkins, K.J.1
Correa, A.2
Feinstein, J.A.3
-
17
-
-
0034935450
-
Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease
-
Junker R, Kotthoff S, Vielhaber H, et al. 2001. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 51:251-254.
-
(2001)
Cardiovasc Res
, vol.51
, pp. 251-254
-
-
Junker, R.1
Kotthoff, S.2
Vielhaber, H.3
-
18
-
-
20544474437
-
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: A family based association study
-
Lambrechts D, Devriendt K, Driscoll DA, et al. 2005. Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet 42:519-522.
-
(2005)
J Med Genet
, vol.42
, pp. 519-522
-
-
Lambrechts, D.1
Devriendt, K.2
Driscoll, D.A.3
-
19
-
-
10544249877
-
Human methionine synthase: CDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
-
Leclerc D, Campeau E, Goyette P, et al. 1996. Human methionine synthase: cDNA cloning 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
-
20
-
-
0031291657
-
The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; report on 181 patients
-
McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. 1997. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1:99-108.
-
(1997)
Genet Test
, vol.1
, pp. 99-108
-
-
McDonald-McGinn, D.M.1
LaRossa, D.2
Goldmuntz, E.3
-
21
-
-
0029033626
-
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
-
Morrow B, Goldberg R, Carlson C, et al. 1995. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391-1403.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1391-1403
-
-
Morrow, B.1
Goldberg, R.2
Carlson, C.3
-
22
-
-
0025863475
-
Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group
-
MRC
-
MRC. 1991. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet 338:131-137.
-
(1991)
Lancet
, vol.338
, pp. 131-137
-
-
-
23
-
-
0002131996
-
-
editors. Epidemiology of Congenital Heart Disease: The Baltimore-Washington Infant Study, Mount Kisco: Futura Publishing Company, Inc. p, 1993
-
Perry LW, Neill CA, Ferencz C, et al. 1993. Infants with congenital heart disease: the cases. In: Ferencz C, Rubin JD, Loffredo CA, et al., editors. Epidemiology of Congenital Heart Disease: The Baltimore-Washington Infant Study 1981-1989. Mount Kisco: Futura Publishing Company, Inc. p 33-62.
-
(1981)
Infants with congenital heart disease: The cases
, pp. 33-62
-
-
Perry, L.W.1
Neill, C.A.2
Ferencz, C.3
-
24
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, et al. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804.
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
-
25
-
-
10744220154
-
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
-
Saitta SC, Harris SE, Gaeth AP, et al. 2004. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 13:417-428.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 417-428
-
-
Saitta, S.C.1
Harris, S.E.2
Gaeth, A.P.3
-
26
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
Scambler PJ, Carey AH, Wyse RK, et al. 1991. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201-206.
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.3
-
27
-
-
0029068922
-
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
-
Sebastio G, Sperandeo MP, Panico M, et al. 1995. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 56:1324-1333.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1324-1333
-
-
Sebastio, G.1
Sperandeo, M.P.2
Panico, M.3
-
28
-
-
0037329890
-
VEGF: A modifier of the del22q11 (DiGeorge) syndrome?
-
Stalmans I, Lambrechts D, De Smet F, et al. 2003. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med 9:173-182.
-
(2003)
Nat Med
, vol.9
, pp. 173-182
-
-
Stalmans, I.1
Lambrechts, D.2
De Smet, F.3
-
29
-
-
0028844492
-
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
-
van der Put NM, Steegers-Theunissen RP, Frosst P, et al. 1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071.
-
(1995)
Lancet
, vol.346
, pp. 1070-1071
-
-
van der Put, N.M.1
Steegers-Theunissen, R.P.2
Frosst, P.3
-
30
-
-
0035064154
-
Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations
-
Wenstrom KD, Johanning GL, Johnston KE, et al. 2001. Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. Am J Obstet Gynecol 184:806-812.
-
(2001)
Am J Obstet Gynecol
, vol.184
, pp. 806-812
-
-
Wenstrom, K.D.1
Johanning, G.L.2
Johnston, K.E.3
-
31
-
-
0028803474
-
A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects
-
Whitehead AS, Gallagher P, Mills JL, et al. 1995. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. QJM 88:763-766.
-
(1995)
QJM
, vol.88
, pp. 763-766
-
-
Whitehead, A.S.1
Gallagher, P.2
Mills, J.L.3
-
32
-
-
0032856882
-
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
-
Wilson A, Platt R, Wu Q, et al. 1999. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 67:317-323.
-
(1999)
Mol Genet Metab
, vol.67
, pp. 317-323
-
-
Wilson, A.1
Platt, R.2
Wu, Q.3
|