Research Topics
Genomes and Genes
Species | Gary ShawSummaryAffiliation: Stanford University Country: USA Publications
Research Grants
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Detail Information
Publications
Thymidylate synthase polymorphisms and risks of human orofacial cleftsGary M Shaw
Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
Birth Defects Res A Clin Mol Teratol 97:95-100. 2013..We investigated effect measure modification between these variants and maternal folate intake for cleft risk...- Periconceptional intake of folic acid and food folate and risks of preterm deliveryGary M Shaw
Stanford University School of Medicine, Stanford, California, USA
Am J Perinatol 28:747-52. 2011..Findings suggest some evidence that folates influenced risks; however, an interpretation of results was also consistent with no association between intake of folates and preterm delivery... 
Estimated dietary phytoestrogen intake and major food sources among women during the year before pregnancySuzan L Carmichael
Department of Pediatrics, Stanford University, Stanford, CA, USA
Nutr J 10:105. 2011..Recently published data on phytoestrogen content of a wide range of foods provide an opportunity to improve estimation of dietary phytoestrogen intake...- Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control studyWei Lu
Dell Pediatric Research Institute, UT Austin, Austin, TX, USA
BMC Med Genet 11:141. 2010..Mutations in transcriptional co-activator genes-Cited2, p300, Cbp, Tfap2α, Carm1 and Cart1 result in NTDs in murine models, thus prompt us to investigate whether homologues of these genes are associated with NTDs in humans... - 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... - 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... - 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... - Periconceptional nutrient intakes and risks of conotruncal heart defectsGary M Shaw
Stanford University School of Medicine, Stanford, California 94305, USA
Birth Defects Res A Clin Mol Teratol 88:144-51. 2010..We investigated the observed association between conotruncal heart defects and periconceptional vitamin use, as well as potential associations with other dietary nutrients... - Reduced risks of neural tube defects and orofacial clefts with higher diet qualitySuzan L Carmichael
Department of Pediatrics, Stanford University, CA 94305 5415, USA
Arch Pediatr Adolesc Med 166:121-6. 2012..To examine whether better maternal diet quality was associated with reduced risk for selected birth defects... 
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...- 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... - 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... - 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.... - Neural tube defects and maternal folate intake among pregnancies conceived after folic acid fortification in the United StatesBridget S Mosley
Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children s Hospital Research Institute, Little Rock, Arkansas 72202, USA
Am J Epidemiol 169:9-17. 2009..Further investigation is warranted to possibly identify women who remain at increased risk of preventable neural tube defects... - 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... - 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... - 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 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... - 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... - 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... - 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... - 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... - VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Hum Mutat 33:364-8. 2012..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M... - 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 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... - 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... - 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... - Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2Anne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, Room U585P, 533 Parnassus St, San Francisco, CA 94143 0748, USA
Eur J Hum Genet 14:999-1008. 2006..In addition, there is evidence for substantial genetic heterogeneity in CDH and diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions... - 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... - Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragmNelson LopezJimenez
Division of Genetics, Department of Pediatrics, University of California, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748, USA
Hum Genet 127:325-36. 2010..Further studies to determine if Lrtm1 has a similar function to Slit3 and if reduced Fgfrl1 expression can cause diaphragm hypoplasia through a mechanism involving decreased myoblast motility and/or myoblast fusion, seem indicated... - Gene-environment interactions in rare diseases that include common birth defectsJohn M Graham
Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Birth Defects Res A Clin Mol Teratol 73:865-7. 2005..The specific types of birth defects examined included cardiovascular defects, holoprosencephaly, clefts of the lip and/or palate, neural tube defects, and diaphragmatic hernias... - 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...
Research Grants
- Gene-nutrient Etiologies of Neural Tube DefectsGary Shaw; Fiscal Year: 2007..Because NTDs result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
- Gene-nutrient Etiologies of Neural Tube DefectsGary M Shaw; Fiscal Year: 2010..Because NTDs result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
- Gene and Nutrient Etiologies of Human Heart DefectsGary M Shaw; Fiscal Year: 2010..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. ..
- Gene and Nutrient Etiologies of Human Heart DefectsGary Shaw; Fiscal Year: 2009..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. ..
- Gene and Nutrient Etiologies of Human Heart DefectsGary Shaw; Fiscal Year: 2006..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. ..
- FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTSGary Shaw; Fiscal Year: 2002..abstract_text> ..