메뉴 건너뛰기




Volumn 82, Issue 10, 2008, Pages 684-691

Spina bifida research resource: Study design and participant characteristics

Author keywords

Birth defect; Epidemiology; Genetic; Myelomeningocele; Neural tube; Spina bifida

Indexed keywords

ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONTROLLED STUDY; DEMOGRAPHY; EMBRYO CELL; FEMALE; HUMAN; HUMAN GENETICS; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; MEDICAL RESEARCH; MENINGOMYELOCELE; PRIORITY JOURNAL; SPINA BIFIDA; THORACIC SPINE;

EID: 55449109011     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20465     Document Type: Article
Times cited : (5)

References (39)
  • 1
    • 33749428869 scopus 로고    scopus 로고
    • Neural tube defects and folate pathway genes: Family-based association tests of gene-gene and gene-environment interactions
    • Boyles AL, Billups AV, Deak KL, et al. 2006. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environmental Health Perspect 114:1547-1552.
    • (2006) Environmental Health Perspect , vol.114 , pp. 1547-1552
    • Boyles, A.L.1    Billups, A.V.2    Deak, K.L.3
  • 2
    • 1942486384 scopus 로고    scopus 로고
    • Evidence that the risk of spina bifida is influenced by genetic variation at the NOS3 locus. Birth Defects Res A Clin Mol
    • Brown KS, Cook M, Hoess K, et al. 2004. Evidence that the risk of spina bifida is influenced by genetic variation at the NOS3 locus. Birth Defects Res A Clin Mol Teratol 70:101-106.
    • (2004) Teratol , vol.70 , pp. 101-106
    • Brown, K.S.1    Cook, M.2    Hoess, K.3
  • 3
    • 0014439351 scopus 로고
    • Genetics of common disorders
    • Carter CO. 1969. Genetics of common disorders. Br Med J 25:52-57.
    • (1969) Br Med J , vol.25 , pp. 52-57
    • Carter, C.O.1
  • 4
    • 55449138315 scopus 로고    scopus 로고
    • Christianson A, Howson CP, Modell B. 2006. March of Dimes Global Report on Birth Defects. White Plains, NY: March of Dimes Birth Defect Foundation. http://www.marchofdimes.com/MOD-Report-PF.pdf.
    • Christianson A, Howson CP, Modell B. 2006. March of Dimes Global Report on Birth Defects. White Plains, NY: March of Dimes Birth Defect Foundation. http://www.marchofdimes.com/MOD-Report-PF.pdf.
  • 5
    • 0036844005 scopus 로고    scopus 로고
    • Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
    • Doolin MT, Barbaux S, McDonnell M, et al. 2002. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet 71:1222-1226.
    • (2002) Am J Hum Genet , vol.71 , pp. 1222-1226
    • Doolin, M.T.1    Barbaux, S.2    McDonnell, M.3
  • 6
    • 0024041228 scopus 로고
    • Are "upper" and "lower" neural tube defects aetiologically different?
    • Frecker MF, Fraser FC, Heneghan WD. 1988. Are "upper" and "lower" neural tube defects aetiologically different? J Med Genet 25:503-504.
    • (1988) J Med Genet , vol.25 , pp. 503-504
    • Frecker, M.F.1    Fraser, F.C.2    Heneghan, W.D.3
  • 7
    • 0345801053 scopus 로고    scopus 로고
    • Methods to evaluate risks for composite end points and their individual components
    • Glynn RJ, Rosner B. 2004. Methods to evaluate risks for composite end points and their individual components. J Clin Epidemiol 57:113-122.
    • (2004) J Clin Epidemiol , vol.57 , pp. 113-122
    • Glynn, R.J.1    Rosner, B.2
  • 8
    • 0024264487 scopus 로고
    • Clinical, genetic, and epidemiological factors in neural tube defects
    • Hall JG, Friedman JM, Kenna BA, et al. 1988. Clinical, genetic, and epidemiological factors in neural tube defects. Am J Hum Genet 43:827-837.
    • (1988) Am J Hum Genet , vol.43 , pp. 827-837
    • Hall, J.G.1    Friedman, J.M.2    Kenna, B.A.3
  • 9
    • 9444295405 scopus 로고    scopus 로고
    • The human T locus and spina bifida risk
    • Jensen LE, Barbaux S, Hoess K, et al. 2004a. The human T locus and spina bifida risk. Hum Genet 115:475-482.
    • (2004) Hum Genet , vol.115 , pp. 475-482
    • Jensen, L.E.1    Barbaux, S.2    Hoess, K.3
  • 10
    • 33745686141 scopus 로고    scopus 로고
    • Loss of function polymorphisms in NAT1 protect against spina bifida
    • Jensen LE, Hoess K, Mitchell LE, et al. 2006. Loss of function polymorphisms in NAT1 protect against spina bifida. Hum Genet 120:52-57.
    • (2006) Hum Genet , vol.120 , pp. 52-57
    • Jensen, L.E.1    Hoess, K.2    Mitchell, L.E.3
  • 11
    • 22944446755 scopus 로고    scopus 로고
    • The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida. Birth Defects Res A Clin Mol
    • Jensen LE, Hoess K, Whitehead AS, et al. 2005. The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida. Birth Defects Res A Clin Mol Teratol 73:512-516.
    • (2005) Teratol , vol.73 , pp. 512-516
    • Jensen, L.E.1    Hoess, K.2    Whitehead, A.S.3
  • 12
    • 3042723620 scopus 로고    scopus 로고
    • A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida. Birth Defects Res A Clin Mol
    • Jensen LE, Wall AM, Cook M, et al. 2004b. A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida. Birth Defects Res A Clin Mol Teratol 70:396-399.
    • (2004) Teratol , vol.70 , pp. 396-399
    • Jensen, L.E.1    Wall, A.M.2    Cook, M.3
  • 13
    • 2642648669 scopus 로고    scopus 로고
    • Associated malformations in infants and fetuses with upper or lower neural tube defects
    • Kallen B, Robert E, Harris J. 1998. Associated malformations in infants and fetuses with upper or lower neural tube defects. Teratology 57:56-63.
    • (1998) Teratology , vol.57 , pp. 56-63
    • Kallen, B.1    Robert, E.2    Harris, J.3
  • 14
    • 0020282677 scopus 로고
    • Etiologic heterogeneity of neural tube defects. II. Clues from family studies
    • Khoury MJ, Erickson JD, James LM. 1982a. Etiologic heterogeneity of neural tube defects. II. Clues from family studies. Am J Hum Genet 34:980-987.
    • (1982) Am J Hum Genet , vol.34 , pp. 980-987
    • Khoury, M.J.1    Erickson, J.D.2    James, L.M.3
  • 15
    • 0020063425 scopus 로고
    • Etiologic heterogeneity of neural tube defects: Clues from epidemiology
    • Khoury MJ, Erickson JD, James LM. 1982b. Etiologic heterogeneity of neural tube defects: clues from epidemiology. Am J Epidemiol 115:538-548.
    • (1982) Am J Epidemiol , vol.115 , pp. 538-548
    • Khoury, M.J.1    Erickson, J.D.2    James, L.M.3
  • 16
    • 34948858950 scopus 로고    scopus 로고
    • The impact of BRCA1 on spina bifida meningomyelocele lesions
    • King TM, Au KS, Kirkpatrick TJ, et al. 2007. The impact of BRCA1 on spina bifida meningomyelocele lesions. Ann Hum Genet 71:719-728.
    • (2007) Ann Hum Genet , vol.71 , pp. 719-728
    • King, T.M.1    Au, K.S.2    Kirkpatrick, T.J.3
  • 17
    • 0024294208 scopus 로고
    • Neural tube defects
    • Lemire RJ. 1988. Neural tube defects. JAMA 259:558-562.
    • (1988) JAMA , vol.259 , pp. 558-562
    • Lemire, R.J.1
  • 18
    • 17844368588 scopus 로고    scopus 로고
    • Non-multifactorial neural tube defects
    • Lynch SA. 2005. Non-multifactorial neural tube defects. Am J Med Genet 135:69-76.
    • (2005) Am J Med Genet , vol.135 , pp. 69-76
    • Lynch, S.A.1
  • 19
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • McCarroll SA, Altshuler DM. 2007. Copy-number variation and association studies of human disease. Nat Genet 39:S37-S42.
    • (2007) Nat Genet , vol.39
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 20
    • 0030938599 scopus 로고    scopus 로고
    • Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium
    • Mitchell LE. 1997. Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium. Am J Hum Genet 60:1006-1007.
    • (1997) Am J Hum Genet , vol.60 , pp. 1006-1007
    • Mitchell, L.E.1
  • 21
    • 17844393862 scopus 로고    scopus 로고
    • Epidemiology of neural tube defects
    • Mitchell LE. 2005. Epidemiology of neural tube defects. Am J Med Genet 135C:88-94.
    • (2005) Am J Med Genet , vol.135 C , pp. 88-94
    • Mitchell, L.E.1
  • 23
    • 26444557985 scopus 로고    scopus 로고
    • Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: The "pent" design
    • Mitchell LE, Weinberg CR. 2005. Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design. Am J Epidemiol 162:676-685.
    • (2005) Am J Epidemiol , vol.162 , pp. 676-685
    • Mitchell, L.E.1    Weinberg, C.R.2
  • 24
    • 55449097095 scopus 로고    scopus 로고
    • Classification of Neural Tube Defects
    • Wyszynski DF, editor, New York: Oxford University Press. p
    • Moore CA. 2006. Classification of Neural Tube Defects. In: Wyszynski DF, editor. Neural Tube Defects From Origin to Treatment. New York: Oxford University Press. p 66-75.
    • (2006) Neural Tube Defects From Origin to Treatment , pp. 66-75
    • Moore, C.A.1
  • 25
    • 14644415866 scopus 로고    scopus 로고
    • Maternal Hyperthermia and the Risk for Neural Tube Defects in Offspring
    • Moretti ME, Bar-Oz B, Fried S, et al. 2005. Maternal Hyperthermia and the Risk for Neural Tube Defects in Offspring. Epidemiology 16:216-219.
    • (2005) Epidemiology , vol.16 , pp. 216-219
    • Moretti, M.E.1    Bar-Oz, B.2    Fried, S.3
  • 26
    • 17044419163 scopus 로고    scopus 로고
    • Genetic association studies of complex traits: Design and analysis issues
    • Newton-Cheh C, Hirschhorn JN. 2005. Genetic association studies of complex traits: design and analysis issues. Mutation Res 573:54-69.
    • (2005) Mutation Res , vol.573 , pp. 54-69
    • Newton-Cheh, C.1    Hirschhorn, J.N.2
  • 27
    • 33846056133 scopus 로고    scopus 로고
    • Folate and neural tube defects
    • Pitkin RM. 2007. Folate and neural tube defects. Am J Clin Nutr 85:S285-S288.
    • (2007) Am J Clin Nutr , vol.85
    • Pitkin, R.M.1
  • 28
    • 0029968027 scopus 로고    scopus 로고
    • Is mutated MTHFR a risk factor for neural tube defects
    • Posey DL, Khoury MJ, Mulinare J, et al. 1996. Is mutated MTHFR a risk factor for neural tube defects. Lancet 347:686-689.
    • (1996) Lancet , vol.347 , pp. 686-689
    • Posey, D.L.1    Khoury, M.J.2    Mulinare, J.3
  • 29
    • 34249661179 scopus 로고    scopus 로고
    • New saliva DNA collection method compared to buccal cell collection techniques for epidemiological studies
    • Rogers NL, Cole SA, Lan HC, et al. 2007. New saliva DNA collection method compared to buccal cell collection techniques for epidemiological studies. Am J Hum Biol 19:319-326.
    • (2007) Am J Hum Biol , vol.19 , pp. 319-326
    • Rogers, N.L.1    Cole, S.A.2    Lan, H.C.3
  • 30
    • 55449109347 scopus 로고    scopus 로고
    • Syndromes with Neural Tube Defects
    • Wyszynski DF, editor, New York: Oxford University Press. p
    • Seaver LH, Stevenson RE. 2006. Syndromes with Neural Tube Defects. In: Wyszynski DF, editor. Neural Tube Defects From Origin to Treatment. New York: Oxford University Press. p 76-83.
    • (2006) Neural Tube Defects From Origin to Treatment , pp. 76-83
    • Seaver, L.H.1    Stevenson, R.E.2
  • 31
    • 34547148938 scopus 로고    scopus 로고
    • Associated malformations in cases with neural tube defects
    • Stoll C, Alembik Y, Dott B. 2007. Associated malformations in cases with neural tube defects. Genet Counsel 18:209-215.
    • (2007) Genet Counsel , vol.18 , pp. 209-215
    • Stoll, C.1    Alembik, Y.2    Dott, B.3
  • 32
    • 0021813397 scopus 로고
    • Possible causal heterogeneity in spina bifida cystica
    • Toriello HV, Higgins JV. 1985. Possible causal heterogeneity in spina bifida cystica. Am J Med Genet 21:13-20.
    • (1985) Am J Med Genet , vol.21 , pp. 13-20
    • Toriello, H.V.1    Higgins, J.V.2
  • 33
    • 0028844492 scopus 로고
    • 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
  • 34
    • 0141925974 scopus 로고    scopus 로고
    • Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res A Clin Mol
    • Volcik KA, Shaw GM, Lammer EJ, et al. 2003. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res A Clin Mol Teratol 67:154-157.
    • (2003) Teratol , vol.67 , pp. 154-157
    • Volcik, K.A.1    Shaw, G.M.2    Lammer, E.J.3
  • 35
    • 34547814677 scopus 로고    scopus 로고
    • Prepregnancy obesity as a risk factor for structural birth defects
    • Waller DK, Shaw GM, Rasmussen SA, et al. 2007. Prepregnancy obesity as a risk factor for structural birth defects. Arch Ped Adolesc Med 161:745-750.
    • (2007) Arch Ped Adolesc Med , vol.161 , pp. 745-750
    • Waller, D.K.1    Shaw, G.M.2    Rasmussen, S.A.3
  • 36
    • 0037318735 scopus 로고    scopus 로고
    • Studying parents and grandparents to assess genetic contributions to early-onset disease
    • Weinberg CR. 2003. Studying parents and grandparents to assess genetic contributions to early-onset disease. Am J Hum Genet 72:438-447.
    • (2003) Am J Hum Genet , vol.72 , pp. 438-447
    • Weinberg, C.R.1
  • 37
    • 0031949066 scopus 로고    scopus 로고
    • A log-linear approach to case-parent-triad data: Assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting
    • Weinberg CR, Wilcox AJ, Lie RT. 1998. A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 62:969-978.
    • (1998) Am J Hum Genet , vol.62 , pp. 969-978
    • Weinberg, C.R.1    Wilcox, A.J.2    Lie, R.T.3
  • 38
    • 0028803474 scopus 로고
    • 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. Quart J Med 88:763-766.
    • (1995) Quart J Med , vol.88 , pp. 763-766
    • Whitehead, A.S.1    Gallagher, P.2    Mills, J.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.