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Genomes and Genes | L D BottoSummaryAffiliation: Centers for Disease Control and Prevention Country: USA Publications
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Publications
Maternal fever, multivitamin use, and selected birth defects: evidence of interaction?Lorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
Epidemiology 13:485-8. 2002..Multivitamin use has been associated with lower risks for some birth defects. We evaluated whether multivitamin use modified birth defect risks associated with febrile illness, a common and possibly teratogenic exposure...- Racial and temporal variations in the prevalence of heart defectsL D Botto
Birth Defects and Genetic Diseases Branch, Division of Birth Defects and Developmental Disabilities, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Pediatrics 107:E32. 2001..Yet, most population-based studies use data from the 1970s and 1980s. We sought to extend into more recent years the study of temporal and racial variations of heart defects occurrence in a well-defined population... - Autosomal trisomy and maternal use of multivitamin supplementsLorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Am J Med Genet A 125:113-6. 2004..3) for Down syndrome and 1.4 (95% CI, 0.5-3.6) for trisomies 13 and 18, with little variation by maternal race or age. Periconceptional multivitamin use was not associated with a major reduction in the risk for common autosomal trisomies... - Vitamin supplements and the risk for congenital anomalies other than neural tube defectsLorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Am J Med Genet C Semin Med Genet 125:12-21. 2004..We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects... - Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gapsLorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Am J Med Genet A 121:95-101. 2003..We review and discuss the evidence and suggest a framework for further investigation in this area... - A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the populationLorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Pediatrics 112:101-7. 2003..Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects... - Occurrence of omphalocele in relation to maternal multivitamin use: a population-based studyLorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Pediatrics 109:904-8. 2002..Omphalocele can occur in certain multiple congenital anomaly patterns with neural tube defects, for which a protective effect of multivitamins with folic acid has been demonstrated... - Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based studyL D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
Epidemiology 12:485-90. 2001..2), left obstructive defects (OR = 2.7), transposition of the great arteries (OR = 1.9), and ventricular septal defects (OR = 1.8). These ORs were generally lower among mothers who used multivitamins during the periconceptional period... - 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE reviewL D Botto
Birth Defects and Pediatric Genetics Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 151:862-77. 2000..Studies of the C677T allele in relation to oral clefts, Down syndrome, and fetal anticonvulsant syndrome either have yielded conflicting results or have not been yet replicated... - Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997R S Boneva
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA
Circulation 103:2376-81. 2001..Recent population-based data for the United States are lacking, however. We examined population-based data for patterns, time trends, and racial differences of mortality from heart defects for the United States from 1979 through 1997... - Vitamin A and cardiac outflow tract defectsL D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
Epidemiology 12:491-6. 2001..8; 95% confidence interval = 0.1-6.6). Similar intakes of carotenoids and dietary retinol were not associated with an increased risk for either type of outflow tract defect... - Maternal prepregnancy weight and congenital heart defects in offspringM L Watkins
Birth Defects and Pediatric Genetics Branch, Division of Birth Defects, Child Development, Disability and Health, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341-3724, USA
Epidemiology 12:439-46. 2001..61, 95% CI = 0.36--0.99) and underweight women but not among overweight or obese women (OR = 1.69, 95% CI = 0.69--3.84)... - Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyondL D Botto
Birth Defects and Genetic Diseases Branch, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 153:1016-20. 2001..To highlight the role of gene-environment interaction in disease causation, the authors propose that the two-by-four table is the fundamental unit of epidemiologic analysis... - Seeking causes: Classifying and evaluating congenital heart defects in etiologic studiesLorenzo D Botto
Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Birth Defects Res A Clin Mol Teratol 79:714-27. 2007..We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS)... - Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects programTiffany Riehle-Colarusso
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Birth Defects Res A Clin Mol Teratol 79:743-53. 2007..This study reports the classification of cases of CHDs in a birth defects surveillance database using modified STS nomenclature... 
Maternal reports of family history from the National Birth Defects Prevention Study, 1997-2001Ridgely Fisk Green
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Genet Med 10:37-45. 2008..To assess usefulness of family history information obtained in pediatric practice, we evaluated maternally reported family history data...- Maternal smoking and congenital heart defectsSadia Malik
Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, 1120 Marshall St, Little Rock, AR 72202, USA
Pediatrics 121:e810-6. 2008..In a population-based case-control study, we investigated the association between congenital heart defects and maternal smoking... 
Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003Marcia L Feldkamp
Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
BMJ 336:1420-3. 2008..To assess the association between genitourinary infections in the month before conception to the end of the first trimesterand gastroschisis...- Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA BankQuan He Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Clin Nutr 88:232-46. 2008..Folate intake and genetic polymorphisms encoding folate-metabolizing enzymes influence blood folate and homocysteine concentrations, but the effects and interactions of these factors have not been studied on a population-wide basis... - Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessmentLorenzo D Botto
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Birth Defects Res A Clin Mol Teratol 76:693-705. 2006..Fortification appears to be effective in reducing NTDs. The effect on other birth defects remains unclear... - Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and ResearchLorenzo D Botto
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N Medical Drive, Salt Lake City, UT 84132, USA
Am J Public Health 96:774-80. 2006.... - Spina bifida and folate-related genes: a study of gene-gene interactionsRaffaella de Franchis
Department of Pediatrics, Federico II University, Napoli, Italy
Genet Med 4:126-30. 2002..To assess whether interactions of common alleles of two folate genes contribute to spina bifida risk... - Maternal obesity and risk for birth defectsMargaret L Watkins
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Pediatrics 111:1152-8. 2003.... - Sex and congenital malformations: an international perspectiveAlessandra Lisi
International Centre on Birth Defects, Rome, Italy
Am J Med Genet A 134:49-57. 2005..Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects... - International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?Lorenzo D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
BMJ 330:571. 2005..To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects... - Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based studyMark A Canfield
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, 78756, USA
Birth Defects Res A Clin Mol Teratol 73:679-89. 2005..Using data reported by states to the National Birth Defects Prevention Network, we examined whether folic acid fortification might have decreased the prevalence of other specific birth defects... - Improvement in stroke mortality in Canada and the United States, 1990 to 2002Quanhe Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Circulation 113:1335-43. 2006..The resulting population-wide reduction in blood homocysteine concentrations might be expected to reduce stroke mortality if high homocysteine levels are an independent risk factor for stroke... - Diabetes mellitus and birth defectsAdolfo Correa
Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Am J Obstet Gynecol 199:237.e1-9. 2008..The purpose of this study was to examine associations between diabetes mellitus and 39 birth defects... - Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12Steven B Bleyl
Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
Am J Med Genet A 140:2368-73. 2006 - Developing a research and public health agenda for gastroschisis: how do we bridge the gap between what is known and what is not?Marcia L Feldkamp
Division of Medical Genetics, University of Utah Health Sciences Center, 2C 402 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Am J Med Genet C Semin Med Genet 148:155-61. 2008