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List of works by Lorenzo Botto

(Mis)classifying limb deficiencies: A reply to ?Academicians are more likely to share each other's toothbrush than each other's nomenclature (Cohen, 1982)? ⬇️

scientific article published on April 1, 1998

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review

scientific article

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

scientific article published on 07 April 2020

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

scientific article published on July 2003

A proposal for the systematic assessment of data quality indicators in birth defects surveillance

scientific article published on 11 February 2019

AEBP1 gene variants in infants with gastroschisis

scientific article

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

scientific article published on 14 October 2011

Acetaminophen use in pregnancy and risk of birth defects: findings from the National Birth Defects Prevention Study

scientific article published on January 2010

Ambient air pollution and cardiovascular malformations in Atlanta, Georgia, 1986-2003

scientific article published on 03 March 2009

An evolutionary and developmental biology approach to gastroschisis

scientific article published on 28 February 2019

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.

scientific article

Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.

scientific article published on 17 August 2012

Antiepileptic drug therapy and congenital defects.

scientific article

Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina

scientific article published on 13 February 2019

Association between prepregnancy body mass index and congenital heart defects

scientific article published in October 2009

Associations between PM2.5 and risk of preterm birth among liveborn infants

scientific article published on 09 October 2019

Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects

scientific article published on 18 July 2016

Autosomal trisomy and maternal use of multivitamin supplements

scientific article published in March 2004

Bayesian multinomial probit modeling of daily windows of susceptibility for maternal PM2.5 exposure and congenital heart defects

scientific article published on 07 February 2016

Better diet quality before pregnancy is associated with reduced risk of gastroschisis in Hispanic women

scientific article published on 24 September 2014

Building capacity for birth defects surveillance in Africa: Implementation of an intermediate birth defects surveillance workshop

scientific article

Cancer risk in children and adolescents with birth defects: a population-based cohort study

scientific article

Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003

scientific article

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 study

scientific article published in October 2005

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

scientific article published on 04 January 2021

Chorionic villus sampling and transverse digital deficiencies: evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies

scientific article

Chorionic villus sampling and transverse limb deficiencies: maternal age is not a confounder

scientific article published on 01 November 1994

Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011

scientific article published on 16 October 2015

Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.

scientific article published on 14 October 2011

Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyond

article

Congenital heart defects after maternal fever

scientific article published on November 2013

Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based study

scientific article published on September 2001

Costs, mortality, and hospital usage in relation to prenatal diagnosis in d-transposition of the great arteries.

scientific article published on 13 February 2017

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

scientific article published on 05 December 2013

Developing a research and public health agenda for gastroschisis: how do we bridge the gap between what is known and what is not?

scientific article published on 01 August 2008

Development and Utility of a Birth Defects Surveillance Toolkit

scientific article published on 14 June 2018

Diabetes mellitus and birth defects

scientific article

Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps

scientific article published in August 2003

Do multivitamin supplements attenuate the risk for diabetes-associated birth defects? ⬇️

scientific article published on May 1, 2003

Does Maternal Exposure to Secondhand Tobacco Smoke During Pregnancy Increase the Risk for Preterm or Small-for-Gestational Age Birth?

scientific article published on 01 October 2018

Early Childhood Inpatient Costs of Critical Congenital Heart Disease

scientific article published on 26 September 2018

Elevated body mass index and decreased diet quality among women and risk of birth defects in their offspring

scientific article published on 14 December 2015

Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah

scientific article published on 19 September 2017

Epidemiology and genetics of microtia-anotia: a registry based study on over one million births ⬇️

scientific article published on June 1, 1995

Epidemiology, etiology and pathogenesis of congenital heart defects

scientific article published on 01 January 1993

Etiology and clinical presentation of birth defects: population based study

scientific article (publication date: 30 May 2017)

Evaluating cost and resource use associated with pulse oximetry screening for critical congenital heart disease: Empiric estimates and sources of variation

scientific article

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome

scientific article published on 17 February 2019

Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and Research

scientific article published on 29 March 2006

From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?

scientific article published on 21 February 2020

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research

scientific article published on 3 June 2010

Improvement in stroke mortality in Canada and the United States, 1990 to 2002.

scientific article published in March 2006

Improving quality of life of children with oral clefts: perspectives of parents

scientific article published in September 2010

Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes

scientific article

Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects program

scientific article

Infant mortality and congenital anomalies from 1950 to 1994: an international perspective

scientific article

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

scientific article

Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008 ⬇️

scientific article published on August 24, 2011

Join World Birth Defects Day

scientific article published on 09 April 2019

Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus–associated birth defects ⬇️

scientific article published on December 27, 2011

Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.

scientific article

Limb anomalies following chorionic villus sampling: a registry based case-control study

scientific article published on December 1992

Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems

scientific article published on July 2000

Lower rate of selected congenital heart defects with better maternal diet quality: a population-based study

scientific article published on 24 August 2015

Maternal butalbital use and selected defects in the national birth defects prevention study

scientific article published on 3 September 2013

Maternal exposure to criteria air pollutants and congenital heart defects in offspring: results from the national birth defects prevention study

scientific article

Maternal exposure to nitrogen dioxide, intake of methyl nutrients and congenital heart defects in offspring

scientific article published on 18 May 2017

Maternal exposure to outdoor air pollution and congenital limb deficiencies in the National Birth Defects Prevention Study

scientific article published on 10 September 2019

Maternal fever, multivitamin use, and selected birth defects: evidence of interaction?

scientific article published on July 2002

Maternal intake of vitamin E and birth defects, national birth defects prevention study, 1997 to 2005.

scientific article published on 17 April 2014

Maternal nutrition and gastroschisis: findings from the National Birth Defects Prevention Study

scientific article published on 11 March 2011

Maternal obesity and risk for birth defects ⬇️

scientific article published on May 1, 2003

Maternal periconceptional alcohol consumption and congenital heart defects

scientific article

Maternal reports of family history from the National Birth Defects Prevention Study, 1997-2001.

scientific article published in January 2008

Maternal smoking and congenital heart defects

scientific article published in April 2008

Maternal use of bupropion and risk for congenital heart defects

scientific article published on 24 April 2010

Monitoring for multiple congenital anomalies: an international perspective

scientific article

Monitoring for new multiple congenital anomalies in the search for human teratogens

scientific article published in June 1993

Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997.

scientific article

Nausea during pregnancy and congenital heart defects: a population-based case-control study

scientific article

Neural-tube defects

scientific article

Newborn screening for critical congenital heart disease: Essential public health roles for birth defects monitoring programs ⬇️

scientific article published on November 27, 2012

Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

scientific article published on 22 May 2007

Nutritional factors and hypospadias risks

scientific article

Occurrence of omphalocele in relation to maternal multivitamin use: a population-based study

scientific article published in May 2002

On the symmetry of limb deficiencies among children with multiple congenital anomalies

scientific article published in January 2001

Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study

scientific article

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

scientific article published on 14 October 2011

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

scientific article published on 02 July 2019

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 Bank.

scientific article

Prospective assessment of pregnancy outcomes after first-trimester exposure to fluconazole

scientific article published in December 1996

Public Health Approach to Improve Outcomes for Congenital Heart Disease Across the Life Span

article

Racial and Ethnic Disparities in Health Care Usage and Death by Neighborhood Poverty Among Individuals With Congenital Heart Defects, 4 US Surveillance Sites, 2011 to 2013

scientific article published in 2024

Racial and temporal variations in the prevalence of heart defects

scientific article published on March 2001

Reduced risks of neural tube defects and orofacial clefts with higher diet quality

scientific article published on 03 October 2011

Reflections on the etiology of structural birth defects: Established teratogens and risk factors

scientific article published on 20 June 2015

Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases: Reply to Janssens et al.

scientific article published in March 2004

Risk factors associated with the development of double-inlet ventricle congenital heart disease

scientific article published on 28 March 2019

Risk factors for Dandy-Walker malformation: a population-based assessment

scientific article published in May 2015

Risk of gastroschisis with maternal genitourinary infections: the US National birth defects prevention study 1997-2011

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

scientific article published on 01 October 2007

Selected birth defects data from population-based birth defects surveillance programs in the United States, 2005–2009: Featuring critical congenital heart defects targeted for pulse oximetry screening

scientific article

Self-reported maternal cigarette smoke exposure during the periconceptional period and the risk for omphalocoele

scientific article published on 8 November 2013

Sex and congenital malformations: an international perspective

scientific article published in April 2005

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

scientific article published on 14 October 2011

Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011

scientific article published on 24 August 2019

Spina bifida and folate-related genes: a study of gene-gene interactions.

scientific article published in May 2002

Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research.

scientific article published on 27 March 2010

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

scientific article published on 13 June 2019

The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study ⬇️

scientific article published on July 5, 2011

The importance of nomenclature for congenital cardiac disease: implications for research and evaluation

scientific article published on December 2008

The spectrum of congenital anomalies of the VATER association: An international study ⬇️

scientific article published on July 11, 1997

Treatment of Hyperthyroidism in Pregnancy and Birth Defects

scholarly article by Maurizio Clementi et al published March 2011 in Obstetrical and Gynecological Survey

Treatment of hyperthyroidism in pregnancy and birth defects.

scientific article published on 28 July 2010

Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment

scientific article published on 01 October 2006

Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective

scientific article published on 18 September 2018

Vitamin A and cardiac outflow tract defects

scientific article

Vitamin supplements and the risk for congenital anomalies other than neural tube defects

scientific article published on February 2004

[The incidence and prevalence of malformation syndromes]

scientific article published on 01 May 1993

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

scientific article published on 06 November 2020

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