Research Topics
Genomes and Genes
| Gary M ShawSummaryAffiliation: California Birth Defects Monitoring Program Country: USA Publications
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Detail Information
Publications
Association between CFL1 gene polymorphisms and spina bifida risk in a California populationHuiping Zhu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
BMC Med Genet 8:12. 2007..Such alterations may be associated with an increased risk for neural tube defects (NTDs)...- CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California populationJames O Ebot Enaw
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
BMC Med 4:36. 2006..Choline is an essential nutrient and it is also a methyl donor critical for the maintenance of cell membrane integrity and methyl metabolism. Perturbations in choline metabolism in vitro have been shown to induce NTDs in mouse embryos... 
Strenuous work, nutrition and adverse pregnancy outcomes: a brief reviewGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA 94606, USA
J Nutr 133:1718S-1721S. 2003..Effects on nutritional status, micronutrients in particular, of pregnant women from strenuous physical activities at work or in other lifestyle events require further study in developing countries...- Food fortification with folic acid and twinning among California infantsGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94606, USA
Am J Med Genet A 119:137-40. 2003..Our results do not suggest a change in twinning prevalence associated with folic acid fortification of the US food supply among women delivering in California... - Maternal occupational chemical exposures and biotransformation genotypes as risk factors for selected congenital anomaliesGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA, USA
Am J Epidemiol 157:475-84. 2003..Although potential associations were observed, most results suggested that maternal occupational chemical exposures did not contribute substantially to the occurrence of these anomalies in this California population... - Infant C677T MTHFR polymorphism and severe mental retardationGary M Shaw
California Birth Defects Monitoring Program, Berkeley, California 94710, USA
Birth Defects Res A Clin Mol Teratol 79:24-6. 2007..We investigated whether infants with homozygous genotype TT of the MTHFR gene were at increased risk of severe mental retardation... - Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defectsGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA, USA
Am J Epidemiol 158:747-52. 2003..Thus, this study found modest evidence for a gene-nutrient interaction between infant RFC1 genotype and periconceptional intake of vitamins on the risk of conotruncal defects... - Neural tube defects associated with maternal periconceptional dietary intake of simple sugars and glycemic indexGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
Am J Clin Nutr 78:972-8. 2003..The interdependence of these factors suggests a common pathogenesis via altered glycemic control and insulin demand... - Differential risks to males and females for congenital malformations among 2.5 million California births, 1989-1997Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, California 94710, USA
Birth Defects Res A Clin Mol Teratol 67:953-8. 2003..Although many studies have observed variations in the prevalence of specific malformations by sex, there is a lack of population-based data on potential malformation prevalence differences by sex at birth... - Maternal nutrient intakes and risk of orofacial cleftsGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
Epidemiology 17:285-91. 2006..Information about nutritional factors as potential risks of orofacial clefts is limited... - Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983-1997Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94710, USA
Am J Med Genet A 125:250-6. 2004..These observed patterns tended to be similar for CP and for CLP... - Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial cleftsGary M Shaw
California Birth Defects Monitoring Program, March of Dimes Birth Defects Foundation, Berkeley, CA 94710, USA
Am J Epidemiol 162:1207-14. 2005..6, 95% CI: 2.1, 10.2; for 894T, OR = 4.4, 95% CI: 1.8, 10.7). No similar patterns were observed for risk of cleft palate... 
Occurrence of low birthweight and preterm delivery among California infants before and after compulsory food fortification with folic acidGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, CA, USA
Public Health Rep 119:170-3. 2004..S. The objective of this study was to investigate the frequencies of low birthweight and preterm delivery after mandatory folic acid fortification among approximately six million California births...- Periconceptional dietary intake of choline and betaine and neural tube defects in offspringGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
Am J Epidemiol 160:102-9. 2004..17 (95% confidence interval: 0.04, 0.76). Study findings for dietary components other than folic acid offer additional clues about the complex etiologies of NTDs... - Epidemiologic characteristics of anotia and microtia in California, 1989-1997Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, California, USA
Birth Defects Res A Clin Mol Teratol 70:472-5. 2004..There is a paucity of epidemiologic information about the external ear malformations anotia and microtia... - Periconceptional dietary intake of myo-inositol and neural tube defects in offspringGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, 1917 Fifth St, Berkeley, CA 94710, USA
Birth Defects Res A Clin Mol Teratol 73:184-7. 2005..We investigated whether maternal periconceptional dietary intake of myo-inositol influenced NTD risk... - Trihalomethane exposures from municipal water supplies and selected congenital malformationsGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA 94606, USA
Epidemiology 14:191-9. 2003.... - Maternal height and prepregnancy body mass index as risk factors for selected congenital anomaliesG M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Emeryville 94608, USA
Paediatr Perinat Epidemiol 14:234-9. 2000..Exploration of other data sets will be needed to determine whether similar patterns of NTD risk or lack of risk for other anomalies are associated with the two maternal anthropometric variables, height and prepregnant weight... - Role of structural birth defects in preterm deliveryG M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland 94606, USA
Paediatr Perinat Epidemiol 15:106-9. 2001..These data indicate that structural birth defects may contribute significantly to the proportion of infants who are delivered before 37 weeks gestation... - Assessing combined chemical exposures as risk factors for neural tube defectsG M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA, USA
Reprod Toxicol 15:631-5. 2001.... - Congenital malformations in offspring of Vietnamese women in California, 1985-97Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94606, USA
Teratology 65:121-4. 2002..Little is known about reproductive outcome risks for Vietnamese women delivering infants and fetuses in the U.S... - Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genesGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley 94710, USA
Am J Med Genet A 138:21-6. 2005..In particular, NPPA appears to be a good candidate gene for conotruncal defects and warrants further investigation... - Paternal occupational group and risk of offspring with neural tube defectsGary M Shaw
March of Dimes Birth Defects Foundation, California Department of Health Services, California Birth Defects Monitoring Program, Oakland, CA 94606, USA
Paediatr Perinat Epidemiol 16:328-33. 2002..8 [0.5, 1.3]. These analyses generated potential clues regarding paternal occupational exposures as NTD risk factors. Risk variation observed by spina bifida phenotype is interesting and will need to be investigated further... - 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defectsGary M Shaw
Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, CA, USA
BMC Med Genet 10:49. 2009..Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism... - Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intakeSuzan L Carmichael
March of Dimes Birth Defect Foundation California Department of Health Services, California Birth Defects Monitoring Program, Berkeley, California 94710, USA
Am J Med Genet A 140:1915-22. 2006..Further studies exploring genetic susceptibility and combined gene-environment effects with respect to limb development will be important to continued improvement of our understanding of the etiology of limb anomalies... - 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 regulationSuzan L Carmichael
California Birth Defects Monitoring Program, March of Dimes Birth Defects Foundation, Berkeley, California 94710, USA
Am J Med Genet A 140:2433-40. 2006..These results suggest involvement of genetic variation of biologically relevant candidate genes, and gene-environment interaction, for some limb anomalies whose pathogenesis may be related to altered vascular tone or integrity... - Nested case-control study of one-carbon metabolites in mid-pregnancy and risks of cleft lip with and without cleft palateGary M Shaw
Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA, 94305, USA
Pediatr Res 66:501-6. 2009..These data did not show meaningful differences between cases and controls for any other analytes... - Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisisClaudine P Torfs
Public Health Institute, Oakland, California, USA
Birth Defects Res A Clin Mol Teratol 76:723-30. 2006..Its etiology is unknown, but the prevailing hypothesis is that it results from a vascular accident at the time of involution of the right umbilical vein or of the development of the superior mesenteric artery... - Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial cleftsEdward J Lammer
Children s Hospital Oakland Research Institute, Oakland, CA, USA
Epidemiology 16:698-701. 2005..We investigated whether risk is greater among offspring who lack the genetic capacity to produce glutathione S-transferase enzymes relevant to detoxification of chemicals in cigarette smoke... - Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifidaGary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94606, USA
Am J Med Genet 108:1-6. 2002.... 
Periconceptional glycaemic load and intake of sugars and their association with neural tube defects in offspringGary M Shaw
March of Dimes, California Research Division, Children s Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA
Paediatr Perinat Epidemiol 22:514-9. 2008..The reasons for current findings to be inconsistent with previous findings are unknown...- Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial cleftsEdward J Lammer
Children s Hospital Research Institute, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 70:846-52. 2004.... - Limb deficiency defects, MSX1, and exposure to tobacco smokeSuzan L Carmichael
March of Dimes Birth Defect Foundation California Department of Health Services, California Birth Defects Monitoring Program, Oakland, California 94710, USA
Am J Med Genet A 125:285-9. 2004..This finding contrasts with results of a previous study, which provided initial evidence for such an interaction. Several important methodological differences may have contributed to the differences in findings between the two studies... - NTD prevalences in central California before and after folic acid fortificationBrian H Chen
March of Dimes Foundation, California Research Division, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 82:547-52. 2008..This study examined whether the declining prefortification (1989-1996) NTD prevalences continued into the postfortification period (1998-2003) in selected California counties... - Maternal reproductive and demographic characteristics as risk factors for hypospadiasSuzan L Carmichael
March of Dimes Birth Defect Foundation California Department of Health Services, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
Paediatr Perinat Epidemiol 21:210-8. 2007..Although the potential contribution of underlying maternal endocrine parameters to the current findings are unknown, the results do provide clues regarding hypospadias aetiology that merit further investigation... - Mid-pregnancy cotinine and risks of orofacial clefts and neural tube defectsGary M Shaw
March of Dimes California Research Division, Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
J Pediatr 154:17-9. 2009..We have correlated measurements of cotinine (a nicotine metabolite) in mid-pregnancy sera with clefts and NTDs... - Hypospadias and maternal exposures to cigarette smokeSuzan L Carmichael
March of Dimes Birth Defect Foundation California Department of Health Services, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
Paediatr Perinat Epidemiol 19:406-12. 2005..This analysis does not confirm a recent report suggesting that maternal smoking is associated with a reduced risk of having offspring with hypospadias... - Periconceptional nutrient intakes and risks of neural tube defects in CaliforniaSuzan L Carmichael
California Research Division, March of Dimes Foundation, Oakland, California 94609 1673, USA
Birth Defects Res A Clin Mol Teratol 88:670-8. 2010.... - Maternal corticosteroid use and hypospadiasSuzan L Carmichael
California Research Division, March of Dimes Foundation, Oakland, CA 94609, USA
J Pediatr 155:39-44, 44.e1. 2009..To explore whether women who reported corticosteroid use during pregnancy were more likely to deliver an infant with hypospadias than women who did not... - Choline and risk of neural tube defects in a folate-fortified populationGary M Shaw
Stanford University School of Medicine, Stanford, California, USA
Epidemiology 20:714-9. 2009..Even so, NTDs continue to occur despite individual supplementation or population fortification with folic acid. We investigated other nutrients related to one-carbon metabolism that may affect NTD risk... - Socio-economic status and risk of conotruncal heart defects and orofacial cleftsSuzan L Carmichael
March of Dimes Birth Defects Foundation California Department of Health Services, California Birth Defects Monitoring Program, Oakland, CA 94710, USA
Paediatr Perinat Epidemiol 17:264-71. 2003..4 for dTGA, and ORs for all six measures were < 0.7 for TOF. ORs for clefts tended to be closer to 1. This study suggests that SES risks are birth defect specific... - Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphismsEdward J Lammer
Children s Hospital Research Institute, 5700 Martin Luther King, Jr Way, Oakland, CA 94609, USA
Epidemiology 15:150-6. 2004..We investigated whether polymorphic variants of fetal acetyl-N-transferases 1 (NAT1) and 2 (NAT2) interact with maternal cigarette smoking during early pregnancy to increase the risk of delivering an infant with an orofacial cleft... - Congenital malformations in offspring of Hispanic and African-American women in California, 1989-1997Suzan L Carmichael
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, California 94710, USA
Birth Defects Res A Clin Mol Teratol 70:382-8. 2004..Little is known about risks of most specific birth defects among infants born to U.S.-born and foreign-born Hispanic or African-American women... - Maternal periconceptional alcohol consumption and risk for conotruncal heart defectsSuzan L Carmichael
March of Dimes Birth Defects Foundation/California Department of Health Services, California Birth Defects Monitoring Program, Oakland, California, USA
Birth Defects Res A Clin Mol Teratol 67:875-8. 2003..Most of the risk estimates were imprecise, and chance could not be ruled out as an explanation for the observed findings... - Maternal stressful life events and risks of birth defectsSuzan L Carmichael
March of Dimes Birth Defect Foundation, California Department of Health Services, California Birth Defects Monitoring Program, Berkeley, CA, USA
Epidemiology 18:356-61. 2007..Several previous studies suggest that maternal stress may be associated with increased risk of certain birth defects. This study examined the association of maternal stressful life events with risks of several birth defects... - Nutrient pathways and neural tube defects: a semi-Bayesian hierarchical analysisSuzan L Carmichael
California Research Division, March of Dimes Foundation, Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
Epidemiology 20:67-73. 2009..The hierarchical approach produces more plausible, more stable estimates than the conventional approach, while adjusting for potential confounding by other nutrients... - Maternal periconceptional vitamins: interactions with selected factors and congenital anomalies?Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94606, USA
Epidemiology 13:625-30. 2002..We hypothesized that effects of congenital anomalies associated with maternal fever, cigarette smoking or alcohol use would be modified by intake of vitamins... - Maternal smoking during early pregnancy, GSTP1 and EPHX1 variants, and risk of isolated orofacial cleftsDorian Ramirez
Department of Emergency Medicine, Harbor UCLA Medical Center, Torrance, and Children s Hospital and Research Center, Oakland, CA 94609, USA
Cleft Palate Craniofac J 44:366-73. 2007..To examine the interactions between four fetal xenobiotic metabolizing gene polymorphisms, maternal cigarette smoking, and risk for oral cleft defects... - Hypospadias and intake of nutrients related to one-carbon metabolismSuzan L Carmichael
California Research Division, March of Dimes Foundation, Oakland, California, USA
J Urol 181:315-21; discussion 321. 2009.... - A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysisNicholas J Marini
Department of Molecular and Cellular Biology, California Institute for Quantitative Biosciences, University of California, Berkeley, California, United States of America
PLoS ONE 6:e28408. 2011..Furthermore, the identification of ethnic-specific risk signatures for spina bifida resonated with epidemiological data suggesting that the underlying pathogenesis may differ between Hispanic and non-Hispanic groups... - Social networks and risk of neural tube defectsSuzan L Carmichael
March of Dimes Birth Defects Foundation California Department of Health Services, California Birth Defects Monitoring Program, Oakland, CA 94606 5226, USA
Eur J Epidemiol 18:129-33. 2003..This study is the first to investigate the association between social networks and risk of NTDs. Stronger inferences await replication and extension of these results... - Screening for novel PAX3 polymorphisms and risks of spina bifidaWei Lu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, and Children s Hospital Oakland Research Institute, CA, USA
Birth Defects Res A Clin Mol Teratol 79:45-9. 2007..Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs... - Maternal corticosteroid use and orofacial cleftsSuzan L Carmichael
March of Dimes Foundation California Department of Health Services, California Birth Defects Monitoring Program, Berkeley, CA, USA
Am J Obstet Gynecol 197:585.e1-7; discussion 683-4, e1-7. 2007..The purpose of this study was to examine whether maternal corticosteroid use during pregnancy is associated with delivering an infant with an orofacial cleft... - Risks of selected congenital malformations among offspring of mixed race-ethnicityJuan Yang
March of Dimes Birth Defects Foundation, California Birth Defect Monitoring Program, Berkeley, CA 94710, USA
Birth Defects Res A Clin Mol Teratol 70:820-4. 2004..Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity... - Craniosynostosis and maternal smokingSuzan L Carmichael
March of Dimes Foundation, California Research Division, Oakland, California, USA
Birth Defects Res A Clin Mol Teratol 82:78-85. 2008..Several previous studies suggested increased risk of craniosynostosis among infants born to women who smoked... - Congenital malformations co-occurring with hypospadias in California, 1983-1997Wei Yang
March of Dimes, California Research Division, Children s Hospital Oakland Research Institute, Oakland, California, USA
Am J Med Genet A 143:2627-34. 2007..Computations were extended to 4-digit level BPA codes. Almost all observed relative risks for malformations co-occurring with hypospadias overall and three subgroups were less than 1... - Prepregnant obesity and risks of selected birth defects in offspringGary M Shaw
March of Dimes, California Research Division, Children s Hospital Oakland Research Institute, Oakland, CA, USA
Epidemiology 19:616-20. 2008..We investigated the previously observed association between obesity and spina bifida and also possible associations between obesity and other birth defects... - Dieting behaviors and risk of neural tube defectsSuzan L Carmichael
March of Dimes Birth Defects Foundation California Department of Health Services, California Birth Defects Monitoring Program, Oakland, CA, USA
Am J Epidemiol 158:1127-31. 2003..7, 95% confidence interval: 0.7, 10.2). This study suggests that maternal dieting behaviors involving restricted food intake during the first trimester may be associated with increased NTD risk... - Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspringGary M Shaw
March of Dimes Birth Defects Foundation, California Research Division, Oakland, California, USA
Birth Defects Res A Clin Mol Teratol 79:708-13. 2007..In this population-based case-control study we investigated whether periconceptional intakes of supplemental folic acid, dietary folate, vitamin A, and several other nutrients were associated with these eye defects... - Diet quality and risk of neural tube defectsSuzan L Carmichael
March of Dimes Birth Defects Foundation California Birth Defects Monitoring Program, Oakland 94606, USA
Med Hypotheses 60:351-5. 2003..Stratified analyses suggested that the effect may be restricted to certain groups of women who may be at greater nutritional risk (i.e., women who did not take vitamin supplements or regularly consume breakfast cereals before pregnancy)... - Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, USA
Am J Med Genet A 137:36-40. 2005..These data show descriptive epidemiologic features of anophthalmia and bilateral microphthalmia... - Neural tube defects and maternal residential proximity to agricultural pesticide applicationsRudolph P Rull
Northern California Cancer Center, Berkeley, CA 94704 1204, USA
Am J Epidemiol 163:743-53. 2006..These results suggest that ambient exposure to certain categories of agricultural pesticides may increase the risk of NTDs... - Association of microtia with maternal obesity and periconceptional folic acid useChen Ma
California Research Division, March of Dimes Foundation, Children s Hospital Oakland Research Institute, 5700 Martin Luther King, Jr Way, Oakland, CA 94609, USA
Am J Med Genet A 152:2756-61. 2010..This analysis suggests that maternal periconceptional intake of folic-acid-containing supplements may provide protection from microtia for non-obese women... - Craniosynostosis and nutrient intake during pregnancySuzan L Carmichael
California Research Division, March of Dimes Foundation, Oakland, California, USA
Birth Defects Res A Clin Mol Teratol 88:1032-9. 2010..To examine the association of craniosynostosis with maternal intake of folic acid-containing supplements and dietary nutrients... - Chromosomal abnormalities among children born with conotruncal cardiac defectsEdward J Lammer
Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 85:30-5. 2009..This study describes the frequency of chromosome abnormalities and microdeletion of 22q11 associated among infants and fetuses delivered with conotruncal heart malformations... - Risk of mental retardation among children born with birth defectsLaura L Jelliffe-Pawlowski
California Birth Defects Monitoring Program, March of Dimes Birth Defects Foundation, Oakland, CA 94612, USA
Arch Pediatr Adolesc Med 157:545-50. 2003..A paucity of epidemiologic research exists concerning the co-occurrence of birth defects and mental retardation (MR). Study of this co-occurrence may yield important clues about the causes of both... - Risks for severe mental retardation occurring in isolation and with other developmental disabilitiesLaura L Jelliffe-Pawlowski
March of Dimes Birth Defect Foundation, California Birth Defects Monitoring Program, Berkeley, USA
Am J Med Genet A 136:152-7. 2005..4, 95% CI 1.5, 7.9), Blacks compared to Whites (RR = 5.1, 95% CI 1.7, 15.5), and Asians compared to Whites (RR = 3.9, 95% CI 1.3, 12.0). Etiologic heterogeneity when SMR occurs with a PDD was suggested... - Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomaliesAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 143:3127-36. 2007..Birth defects monitoring programs can provide the interface for epidemiology and clinical genetics, which in this case, may generate hypotheses to establish the pathogenesis of CDH laterality. (c) 2007 Wiley-Liss, Inc... - Markers of acculturation and risk of NTDs among Hispanic women in CaliforniaSuzan L Carmichael
California Research Division, March of Dimes Foundation, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 82:755-62. 2008..It also examines whether known NTD risk factors explain observed differences in risk among Hispanic women who are more and less acculturated... - Physical activity and risk of neural tube defectsSuzan L Carmichael
March of Dimes Birth Defects Foundation California Department of Health Services, Oakland 94606 5226, USA
Matern Child Health J 6:151-7. 2002..Owing to its association with known risk factors for neural tube defects (NTDs) and its impact on physiologic processes relevant to fetal development, physical activity was identified as a potential risk factor for NTD-affected pregnancy... - Epidemiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births, 1989-1997Wei Yang
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, California 94710, USA
Birth Defects Res A Clin Mol Teratol 76:170-4. 2006..The aims of the current report were to extend the literature on the descriptive epidemiology of CDH and to determine whether its mortality rate decreased in California during the study period... - Hypospadias in California: trends and descriptive epidemiologySuzan L Carmichael
March of Dimes Birth Defect Foundation, California Birth Defects Monitoring Program, Oakland, California, USA
Epidemiology 14:701-6. 2003..We used actively ascertained, population-based data for which detailed clinical descriptions permitted careful phenotypic classifications... - Timing of prenatal care initiation and risk of congenital malformationsSuzan L Carmichael
March of Dimes Birth Defect Foundation, California Birth Defects Monitoring Program, Oakland, California 94606, USA
Teratology 66:326-30. 2002..This study uses data from a large population-based registry to explore the association of timing of prenatal care initiation with risks of selected congenital malformation phenotypes... - Maternal food insecurity is associated with increased risk of certain birth defectsSuzan L Carmichael
March of Dimes Foundation, California Birth Defects Monitoring Program, Berkeley, CA 94710, USA
J Nutr 137:2087-92. 2007..e. 2), the corresponding OR was 1.16 (95% CI 0.96, 1.38). This study suggests that increased risks of certain birth defects may be included among the negative consequences of food insecurity... - Socioeconomic measures, orofacial clefts, and conotruncal heart defects in CaliforniaSuzan L Carmichael
California Research Division, March of Dimes Foundation, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 85:850-7. 2009..To examine the association of multiple measures of socioeconomic status (SES) with risks of orofacial clefts and conotruncal heart defects... - Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomaliesJagteshwar Grewal
Division of Epidemiology, Statistics and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
Birth Defects Res A Clin Mol Teratol 82:519-26. 2008..e., 2 months before through 2 months after conception) and the risk of orofacial clefts, NTDs, and conotruncal heart defects in offspring... - Integration of DNA sample collection into a multi-site birth defects case-control studySonja A Rasmussen
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Teratology 66:177-84. 2002..Information on the methods used and issues faced by the NBDPS may be of value to others considering the addition of DNA sampling to epidemiologic studies... - Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifidaKelly A Volcik
Institute of BioScience and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 3303, USA
Birth Defects Res A Clin Mol Teratol 67:158-61. 2003.... - Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?Richard H Finnell
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
Genet Test 6:47-52. 2002.... - Ambient air pollution and risk of birth defects in Southern CaliforniaBeate Ritz
Department of Epidemiology, School of Public Health, University of California, Los Angeles, Los Angeles, CA 90095 1772, USA
Am J Epidemiol 155:17-25. 2002..Confirmation by further studies is needed... - Genetic variation in the proto-oncogene SKI and risk for orofacial cleftingWei Lu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
Mol Genet Metab 86:412-6. 2005..To identify genetic variants within the SKI gene and investigate the potential association between SKI polymorphisms and risk for orofacial defects, we initially re-sequenced the gene... - Validation of self-reported proximity to agricultural crops in a case-control study of neural tube defectsRudolph P Rull
Center for Health Policy Research, University of California, Los Angeles, CA 90024, USA
J Expo Sci Environ Epidemiol 16:147-55. 2006..These results suggest differential reporting between case and control mothers as well as an influence from maternal demographic characteristics on reporting accuracy... - Genes encoding catalytic subunits of protein kinase A and risk of spina bifidaHuiping Zhu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas
Birth Defects Res A Clin Mol Teratol 73:591-6. 2005..We hypothesized that sequence variations in human genes encoding the catalytic subunits may alter the PKA activity and similarly increase the risk of spina bifida... - Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?Huiping Zhu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
Am J Med Genet A 135:274-7. 2005..The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population... - A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifidaHuiping Zhu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
Mol Genet Metab 87:66-70. 2006..6, 95% confidence interval: 0.4-0.9). Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. Val/Val genotype was associated with a reduction in risk for spina bifida... - Prepregnancy obesity as a risk factor for structural birth defectsD Kim Waller
School of Public Health, The University of Texas at Houston, Houston, TX 77030, USA
Arch Pediatr Adolesc Med 161:745-50. 2007..To describe the relation between maternal obesity, overweight and underweight status, and 16 categories of structural birth defects... - Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifidaJing Zhang
Am J Med Genet A 140:785-9. 2006 - Understanding the increased risk of neural tube defect-affected pregnancies among Mexico-born women in California: immigration and anthropometric factorsEllen M Velie
Department of Epidemiology, Michigan State University, East Lansing 48824, USA
Paediatr Perinat Epidemiol 20:219-30. 2006..Findings indicate that recent Mexican immigrants have a sevenfold increased risk for NTDs. Maternal BMI and height contributed very little, and inadequate weight gain contributed modestly to the NTD risk disparity for Mexican immigrants... - Associations between polymorphisms within the thymidylate synthase gene and spina bifidaKelly A Volcik
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
Birth Defects Res A Clin Mol Teratol 67:924-8. 2003..We investigated whether TS polymorphisms contribute to spina bifida (SB) risk, given that a reduction in the risk of SB has been linked to folate metabolism... - Agenesis of the corpus callosum in California 1983-2003: a population-based studyHannah C Glass
Department of Neurology, University of California, San Francisco, California 94143 0137, USA
Am J Med Genet A 146:2495-500. 2008.... - Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifidaWei Lu
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University Health Science Center, Houston, Texas 77030, USA
Birth Defects Res A Clin Mol Teratol 82:670-5. 2008..The enzyme nicotinamide N-methyl transferase (NNMT) was identified in a genome-wide linkage scan as being an important regulator of homocysteine homeostasis in a Spanish population, making it an interesting candidate gene for NTDs... - Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defectsKelly A Volcik
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 0330, USA
Birth Defects Res A Clin Mol Teratol 67:154-7. 2003..It has been hypothesized that maternal folic acid supplementation prevents NTDs by partially correcting reduced MTHFR activity associated with the variant form of the enzyme... - Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot studyHuiping Zhu
Institute of BioScience and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
Am J Med Genet A 117:87-8. 2003
Research Grants
- Gene and Nutrient Etiologies of Human Heart DefectsGary Shaw; Fiscal Year: 2007..Because these defects result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..