Grantee Research Project Results
Journal Publications Details for Grant Number R828292
Gene-Environment Interaction and Human Malformations
RFA:
Genetic Susceptibility and Variability of Human Malformations (1999)
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| Reference Type | Reference Title | Journal | Author | Citation | Progress Report Year | Document Sources |
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| Journal Article | Neural tube defects and folate: case far from closed. | None | Blom HJ, Shaw GM, den Heijer M, Finnell RH | Blom HJ, Shaw GM, den Heijer M, Finnell RH. Neural tube defects and folate: case far from closed. Nature Reviews Neuroscience 2006;7(9):724-731. |
R828292 (Final) |
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| Journal Article | Limb deficiency defects, MSX1, and exposure to tobacco smoke. | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Carmichael SL, Shaw GM, Yang W, Lammer EJ | Carmichael SL, Shaw GM, Yang W, Lammer EJ, Zhu H, Finnell RH. Limb deficiency defects, MSX1, and exposure to tobacco smoke. American Journal of Medical Genetics Part A 2004;125A(3):285-289. |
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| Journal Article | Hypospadias and maternal exposures to cigarette smoke. | PEDIATRIC AND PRENATAL EPIDEMIOLOGY | Carmichael SL, Shaw GM, Laurent C, Lammer EJ | Carmichael SL, Shaw GM, Laurent C, Lammer EJ, et al. Hypospadias and maternal exposures to cigarette smoke. Pediatric and Perinatal Epidemiology 2005;19(6):406-412. |
R828292 (2005) |
not available |
| Journal Article | Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Carmichael SL, Shaw GM, Iovannisci DM, Yang W, Finnell RH, Cheng S, Lammer EJ | Carmichael SL, Shaw GM, Iovannisci DM, Yang W, Finnell RH, Cheng S, Lammer EJ. Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. American Journal of Medical Genetics Part A 2006;140A(22):2433-2440. |
R828292 (Final) |
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| Journal Article | Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake. | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Carmichael SL, Shaw GM, Yang W, Iovannisci DM, Lammer E | Carmichael SL, Shaw GM, Yang W, Iovannisci DM, Lammer E. Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake. American Journal of Medical Genetics Part A 2006;140A(18):1915-1922. |
R828292 (Final) |
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| Journal Article | Gene-nutrient interactions: importance of folates and retinoids during early embryogenesis. | TOXICOLOGY AND APPLIED PHARMACOLOGY | Finnell RH, Shaw GM, Lammer EJ, Brandt KL, Carmichael SL, Rosenquist TH | Finnell RH, Shaw GM, Lammer EJ, Brandl KL, Carmichael SL, Rosenquist TH. Gene-nutrient interactions: importance of folates and retinoids during early embryogenesis. Toxicology and Applied Pharmacology 2004;198(2):75-85. |
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| Journal Article | Gene-environment interactions in rare diseases that include common birth defects. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Graham Jr. JM, Shaw GM | Graham Jr. JM, Shaw GM. Gene-environment interactions in rare diseases that include common birth defects. Birth Defects Research Part A: Clinical and Molecular Teratology 2005;73(11):865-867. |
R828292 (Final) |
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| Journal Article | Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Gupta T, Yang W, Lovannisci D, Carmichal S, Stevenson D, Shaw G, Lammer E | Gupta T, Yang W, Lovannisci D, Carmichal S, Stevenson D, Shaw G, Lammer E. Considering the vascular hypothesis for the pathogenesis of small intestinal atresia:A case control study of genetic factors. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2013;161A(4):702-710. |
R828292 (Final) |
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| Journal Article | The READIT™ assay as a method for genotyping NAT1*10 polymorphisms. | GENETIC TESTING | Iovannisci DM, Kupperman SO, Lloyd EW, Lammer EJ | Iovannisci DM, Kupperman SO, Lloyd EW, Lammer EJ. The READIT™ assay as a method for genotyping NAT1*10 polymorphisms. Genetic Testing 2002;6(4):245-253. |
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| Journal Article | Recovery of genomic DNA from residual frozen archival blood clots suitable for amplification and use in genotyping assays. | GENETIC TESTING | Iovannisci DM, Ha TT, Shaw GM | Iovannisci DM, Ha TT, Shaw GM. Recovery of genomic DNA from residual frozen archival blood clots suitable for amplification and use in genotyping assays. Genetic Testing 2006;10(1):44-49. |
R828292 (2005) R828292 (Final) |
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| Journal Article | Association of Congenital Cardiovascular Malformations with 33 Single Nucleotide Polymorphisms of Selected Cardiovascular Disease-Related Genes | BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY | Kuehl K, Loffredo C, Lammer E, Lovannisci D, Snaw G | Kuehl K, Loffredo C, Lammer E, Lovannisci D, Snaw G. Association of Congenital Cardiovascular Malformations with 33 Single Nucleotide Polymorphisms of Selected Cardiovascular Disease-Related Genes. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY 2010;88(2):101-110. |
R828292 (Final) |
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| Journal Article | Maternal smoking and the risk of orofacial clefts: susceptibility with NAT1 and NAT2 polymorphisms. | EPIDEMIOLOGY | Lammer EJ, Shaw GM, Iovannisci DM, Van Waes J, Finnell RH | Lammer EJ, Shaw GM, Iovannisci DM, Van Waes J, Finnell RH. Maternal smoking and the risk of orofacial clefts: susceptibility with NAT1 and NAT2 polymorphisms. Epidemiology 2004;15(2):150-156. |
R828292 (2005) R828292 (Final) |
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| Journal Article | Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase (NAT1), and risk for orofacial clefts. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Lammer EJ, Shaw GM, Iovannisci DM, Finnell RH | Lammer EJ, Shaw GM, Iovannisci DM, Finnell RH. Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts. Birth Defects Research Part A: Clinical and Molecular Teratology 2004;70(11):846-852. |
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| Journal Article | Maternal smoking genetic variation of glutathione S-transferases, and risk for orofacial clefts. | EPIDEMIOLOGY | Lammer EJ, Shaw GM, Iovannisci D, Finnell RH | Lammer EJ, Shaw GM, Iovannisci DM, Finnell RH. Maternal smoking, genetic variation of glutathione S-transferases, and risk for orofacial clefts. Epidemiology 2005;16(5):698-701. |
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| Journal Article | Genetic variation in the proto-oncogene SKI and risk for orofacial clefting. | MOLECULAR GENETICS AND METABOLISM | Lu W, Volcik K, Zhu H, Wen S, Yang W, Shaw GM, Lammer EJ, Finnell RH | Lu W, Volcik K, Zhu H, Wen S, Shaw GM, Lammer EJ, Finnell RH. Genetic variation in the proto-oncogene SKI and risk for orofacial clefting. Molecular Genetics and Metabolism 2005;86(3):412-416. |
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| Journal Article | Screening for novel PAX3 polymorphisms and risks of spina bifida. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Lu W, Zhu H, Wen S, Laurent C, Shaw GM, Lammer EJ, Finnell RH | Lu W, Zhu H, Wen S, Laurent C, Shaw GM, Lammer EJ, Finnell RH. Screening for novel PAX3 polymorphisms and risks of spina bifida. Birth Defects Research Part A: Clinical and Molecular Teratology 2007;79(1):45-49. |
R828292 (Final) |
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| Journal Article | Candidate gene polymorphisms do not differ between newborns with stroke and normal controls. | STROKE | Miller SP, Wu YW, Lee J, Lammer EJ, Iovannisci DM, Glidden DV, Bonifacio SL, Collins A, Shaw GM, Barkovich AJ, Ferriero DM | Miller SP, Wu YW, Lee J, Lammer EJ, Iovannisci DM, Glidden DV, Bonifacio SL, Collins A, Shaw GM, Barkovich AJ, Ferriero DM. Candidate gene polymorphisms do not differ between newborns with stroke and normal controls. Stroke 2006;37(11):2678-2683. |
R828292 (Final) |
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| Journal Article | Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts. | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Olshan AF, Shaw GM, Millikan R, Laurent C, Finnell RH | Olshan AF, Shaw GM, Millikan RC, Laurent C, Finnell RH. Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts. American Journal of Medical Genetics Part A 2005;135A(3):268-273. |
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| Journal Article | Validation of self-reported proximity to agricultural crops in a case-control study of neural tube defects. | JOURNAL OF EXPOSURE ANALYSIS AND ENVIRONMENTAL EPIDEMIOLOGY | Rull RP, Ritz B, Shaw GM | Rull RP, Ritz B, Shaw GM. Validation of self-reported proximity to agricultural crops in a case-control study of neural tube defects. Journal of Exposure Science & Environmental Epidemiology 2006;16(2):147-155. |
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| Journal Article | Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. | AMERICAN JOURNAL OF MEDICAL GENETICS | Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH | Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. American Journal of Medical Genetics 2002;108(1):1-6. |
R828292 (2002) R828292 (2003) R828292 (2004) R828292 (2005) R828292 (Final) |
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| Journal Article | Maternal occupational chemical exposures and biotransformation genotypes as risk factors for selected congenital anomalies. | AMERICAN JOURNAL OF EPIDEMIOLOGY | Shaw GM, Nelson V, Iovannisci DM, Finnell RH, Lammer EJ | Shaw GM, Nelson V, Iovannisci DM, Finnell RH, Lammer EJ. Maternal occupational chemical exposures and biotransformation genotypes as risk factors for selected congenital anomalies. American Journal of Epidemiology 2003;157(6):475-484. |
R828292 (2002) R828292 (2003) R828292 (2004) R828292 (2005) R828292 (Final) |
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| Journal Article | Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects. | AMERICAN JOURNAL OF EPIDEMIOLOGY | Shaw GM, Zhu H, Lammer EJ, Yang W, Finnell RH | Shaw GM, Zhu H, Lammer EJ, Yang W, Finnell RH. Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects. American Journal of Epidemiology 2003;158(8):747-752. |
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| Journal Article | Neural tube defects in offspring associated with maternal periconceptional dietary intake of simple sugars and glycemic index. | AMERICAN JOURNAL OF CLINICAL NUTRITION | Shaw GM, Quach T, Nelson V, Carmichael SL, Schaffer DM, Selvin S | Shaw GM, Quach T, Nelson V, Carmichael SL, et al. Neural tube defects in offspring associated with maternal periconceptional dietary intake of simple sugars and glycemic index. American Journal of Clinical Nutrition 2003;78(5):972-978. |
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not available |
| Journal Article | Periconceptional dietary intake of choline and betaine and neural tube defects in offspring. | AMERICAN JOURNAL OF EPIDEMIOLOGY | Shaw GM, Carmichael SL, Yang W, Selvin S | Shaw GM, Carmichael SL, Yang W, Selvin S, Schaffer DM. Periconceptional dietary intake of choline and betaine and neural tube defects in offspring. American Journal of Epidemiology 2004;160(2):102-109. |
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| Journal Article | Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. | AMERICAN JOURNAL OF EPIDEMIOLOGY | Shaw GM, Iovannisci DM, Yang W, Finnell RH | Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ. Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. American Journal of Epidemiology 2005;162(12):1207-1214. |
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| Journal Article | Periconceptional dietary intake of myo-inositol and neural tube defects in offspring. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Shaw GM, Carmichael SL, Yang W, Schaffer DM | Shaw GM, Carmichael SL, Yang W, Schaffer DM. Periconceptional dietary intake of myo-inositol and neural tube defects in offspring. Birth Defects Research Part A: Clinical and Molecular Teratology 2005;73(3):184-187. |
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| Journal Article | Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ | Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. American Journal of Medical Genetics Part A 2005;138A(1):21-26. |
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| Journal Article | Maternal nutrient intakes and risk of orofacial clefts. | EPIDEMIOLOGY | Shaw GM, Carmichael SL, Laurent C, Rasmussen SA | Shaw GM, Carmichael SL, Laurent C, Rasmussen SA. Maternal nutrient intakes and risk of orofacial clefts. Epidemiology 2006;17(3):285-291. |
R828292 (Final) |
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| Journal Article | Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Torfs CP, Christianson RE, Iovannisci DM, Shaw GM, Lammer EJ | Torfs CP, Christianson RE, Iovannisci DM, Shaw GM, Lammer EJ. Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. Birth Defects Research Part A: Clinical and Molecular Teratology 2006;76(10):723-730. |
R828292 (Final) |
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| Journal Article | Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Volcik KA, Shaw GM, Lammer EJ, Zhu H, Finnell RH | Volcik KA, Shaw GM, Lammer EJ, Zhu H, Finnell RH. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Research Part A:Clinical and Molecular Teratology 2003;67(3):154-157. |
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| Journal Article | Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifida. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Volcik KA, Shaw GM, Zhu H, Lammer EJ, Finnell RH | Volcik KA, Shaw GM, Zhu H, Lammer EJ, Finnell RH. Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifida. Birth Defects Research Part A: Clinical and Molecular Teratology 2003;67:158-161. |
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| Journal Article | Associations between polymorphisms within the thymidylate synthase gene and spina bifida. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Volcik KA, Shaw GM, Zhu H, Lammer EJ, Laurent C, Finnell RH | Volcik KA, Shaw GM, Zhu H, Lammer EJ, Laurent C, Finnell RH. Associations between polymorphisms within the thymidylate synthase gene and spina bifida. Birth Defects Research Part A: Clinical and Molecular Teratology 2003;67(11):924-928. |
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| Journal Article | Evaluation of the CITED2 gene and risk for spina bifida and congenital heart defects. | AMERICAN JOURNAL OF MEDICAL GENETICS | Volcik KA, Zhu H, Shaw GM, Canfield M, Lammer EJ, Finnell RH | Volcik KA, Zhu H, Shaw GM, Canfield M, et al. Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects. American Journal of Medical Genetics 2004;126A(3):324-325. |
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| Journal Article | Jumonji gene and risk for spina bifida and congenital heart defects. | AMERICAN JOURNAL OF MEDICAL GENETICS | Volcik KA, Zhu H, Shaw GM, Lammer EJ, Finnell RH | Volcik KA, Zhu H, Shaw GM, Lammer EJ, et al. Jumonji gene and risk for spina bifida and congenital heart defects. American Journal of Medical Genetics 2004;126A(2):215-217. |
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not available |
| Journal Article | Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifida. | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Zhang J, Zhu H, Yang W, Shaw GM, Lammer EJ, Finnell RH | Zhang J, Zhu H, Yang W, Shaw GM, Lammer EJ, Finnell RH. Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifida. American Journal of Medical Genetics Part A 2006;140A(7):785-789. |
R828292 (Final) |
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| Journal Article | Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study. | AMERICAN JOURNAL OF MEDICAL GENETICS | Zhu HP, Barber R, Shaw GM, Lammer EJ, Finnell RH | Zhu HP, Barber R, Shaw GM, Lammer EJ, et al. Is sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study. American Journal of Medical Genetics 2003;117A(1):87-88. |
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| Journal Article | Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. | MOLECULAR GENETICS AND METABOLISM | Zhu HP, Wicker NJ, Shaw GM, Lammer EJ, Hendricks K, Suarez L, Canfield M, Finnell RH | Zhu HP, Wicker NJ, Shaw GM, Lammer EJ, Hendricks K, Suarez L, Canfield M, Finnell RH. Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Molecular Genetics and Metabolism 2003;78(3):216-221. |
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| Journal Article | Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects. | MOLECULAR GENETICS AND METABOLISM | Zhu HP, Wicker NJ, Volcik K, Shaw GM, Lammer EJ, Suarez L, Canfield M, Finnell RH | Zhu HP, Wicker NJ, Volcik K, Zhang J, Shaw GM, Lammer EJ, Suarez L, Canfield M, Finnell RH. Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects. Molecular Genetics and Metabolism 2004;81(2):127-132. |
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| Journal Article | Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | Zhu HP, Curry S, Wen S, Shaw GM, Lammer EJ, Yang W, Jafarov T, Finnell RH | Zhu HP, Curry S, Wen S, Wicker NJ, Shaw GM, Lammer EJ, Yang W, Jafarov T, Finnell RH. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? American Journal of Medical Genetics Part A 2005;135A(3):274-277. |
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| Journal Article | A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. | MOLECULAR GENETICS AND METABOLISM | Zhu HP, Yang W, Lu W, Zhang J | Zhu HP, Yang W, Lu W, Zhang J, Shaw GM, Lammer EJ, Finnell RH. A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. Molecular Genetics and Metabolism 2006;87(1):66-70. |
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| Journal Article | Genes encoding catalytic subunits of protein kinase A and risk of spina bifida. | BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY | Zhu H, Lu W, Laurent C, Shaw GM, Lammer EJ, Finnell RH | Zhu H, Lu W, Laurent C, Shaw GM, et al. Genes encoding catalytic subunits of protein kinase A and risk of spina bifida. Birth Defects Research Part A: Clinical and Molecular Teratology 2005;73(9):591-596. |
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not available |
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