Professor, Pediatrics, University of Utah School of Medicine
Medical Genetics
Dr. Lorenzo D. Botto, MD
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Lorenzo Botto is an expert in the field of Medical Genetics. He has 1 awards "Regional Top Doctor". Lorenzo Botto is a published doctor. He has 101 publications published. The most current publication "Exploring gene-gene interactions in the etiology of neural tube defects."
Publications
- Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.
- Bayesian multinomial probit modeling of daily windows of susceptibility for maternal PM2.5 exposure and congenital heart defects.
- Chlamydia trachomatis IgG3 seropositivity is associated with gastroschisis.
- Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology.
- Prevalence of Variants in Methylenetetrahydrofolate Reductase and the Severity of Pulmonary Vascular Disease.
- Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings.
- Maternal Exposure to Criteria Air Pollutants and Congenital Heart Defects in Offspring: Results from the National Birth Defects Prevention Study.
- Maternal intake of vitamin E and birth defects, national birth defects prevention study, 1997 to 2005.
- Self-Reported Maternal Cigarette Smoke Exposure during the Periconceptional Period and the Risk for Omphalocoele.
- Congenital heart defects after maternal fever.
- Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency.
- Selected birth defects data from population-based birth defects surveillance programs in the United States, 2005â2009: Featuring critical congenital heart defects targ...
- AEBP1 gene variants in infants with gastroschisis.
- Nutritional factors and hypospadias risks.
- Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening.
- Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, an...
- Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.
- Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.
- Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.
- Barriers to Prenatal Detection of Congenital Heart Disease: A Population Based Study.
- Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008.
- The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study.
- Maternal nutrition and gastroschisis: findings from the National Birth Defects Prevention Study.
- Improving quality of life of children with oral clefts: perspectives of parents.
- Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research.
- How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research.
- Acetaminophen use in pregnancy and risk of birth defects: findings from the National Birth Defects Prevention Study.
- Ambient air pollution and cardiovascular malformations in Atlanta, Georgia, 1986-2003.
- Diabetes mellitus and birth defects.
- Developing a research and public health agenda for gastroschisis: how do we bridge the gap between what is known and what is not?
- 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 ...
- Cardiomyopathy and carnitine deficiency.
- Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects program.
- Flavors in gene-environment interactions.
- Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.
- Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment.
- Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and R...
- Improvement in stroke mortality in Canada and the United States, 1990 to 2002.
- Sex and congenital malformations: an international perspective.
- Autosomal trisomy and maternal use of multivitamin supplements.
- Vitamin supplements and the risk for congenital anomalies other than neural tube defects.
- Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps.
- A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
- Maternal obesity and risk for birth defects.
- Maternal fever, multivitamin use, and selected birth defects: evidence of interaction?
- Occurrence of omphalocele in relation to maternal multivitamin use: a population-based study.
- Spina bifida and folate-related genes: a study of gene-gene interactions.
- Maternal Prepregnancy Weight and Congenital Heart Defects in the Offspring.
- Cancer risk in children and adolescents with birth defects: a population-based cohort study.
- Safety of chorionic villus sampling.
- Limb defects and chorionic villus sampling.
- (Mis)classifying limb deficiencies: Reply to "Academicians are more likely to share each other's toothbrush than each other's nomenclature (Cohen, 1982)".
- Do multivitamin supplements reduce the risk for congenital heart defects? Evidence and gaps.
- The spectrum of congenital anomalies of the VATER association: an international study.
- On the symmetry of limb deficiencies among children with multiple congenital anomalies.
- Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.
- Limb defects and gestational age at chorionic villus sampling.
- Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.
- Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyond.
- Limb anomalies following chorionic villus sampling: a registry based case-control study.
- Limb reduction defects and coastal areas.
- [Prevalence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) in the Hungarian population].
- Chorionic villus sampling and transverse digital deficiencies: evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies.
- Structural congenital defects in multiple births.
- Neural-tube defects.
- [The incidence and prevalence of malformation syndromes].
- Exploring gene-gene interactions in the etiology of neural tube defects.
- Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.
- Antiepileptic drug therapy and congenital defects.
- Chorionic villus sampling and transverse limb deficiencies: maternal age is not a confounder.
- Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.
- Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries.
- Infant mortality and congenital anomalies from 1950 to 1994: an international perspective.
- Vitamin A and cardiac outflow tract defects.
- Prospective assessment of pregnancy outcomes after first-trimester exposure to fluconazole.
- Epidemiology, etiology and pathogenesis of congenital heart defects.
- Racial and temporal variations in the prevalence of heart defects.
- Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997.
- Re: "Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida".
- 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
- Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based study.
- Occurrence of congenital heart defects in relation to maternal mulitivitamin use.
- Monitoring for multiple congenital anomalies: an international perspective.
- Monitoring for new multiple congenital anomalies in the search for human teratogens.
- Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study.
- Nausea during pregnancy and congenital heart defects: a population-based case-control study.
- Maternal prepregnancy weight and congenital heart defects in offspring.
- Do multivitamin supplements attenuate the risk for diabetes-associated birth defects?
- Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes.
- [Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].
- 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 ...
- International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?
- Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascula...
- Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.
- Maternal reports of family history from the National Birth Defects Prevention Study, 1997-2001.
- The importance of nomenclature for congenital cardiac disease: implications for research and evaluation.
- Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003.
- Maternal smoking and congenital heart defects.
- Association between prepregnancy body mass index and congenital heart defects.
- Maternal use of bupropion and risk for congenital heart defects.
Schools
Catholic University of Sacro Cuore Faculty of Medicine And Surgery
University Catheterization S Cuore
University Of Utah Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Medical Genetics
Accepted Insurances
- Choice Plus POS II
- Altius Health Plans
- Blue Card PPO
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Commercial Insurance Company
- CoreSource
- First Health (Coventry Health Care) PPO
- Golden Rule
- GEHA
- Humana
- Medicare MCR
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Awards
- Regional Top Doctor
Education
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University of Utah -
University of Cattolica del Sacro Cuore
Hospital
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University of Utah Health Care - Hospital and Clinics
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