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5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36.3), and two common alleles, the C677T (thermolabile)… Expand
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
- B. Wilcken, F. Bamforth, +28 authors L. Botto
- Biology, Medicine
- Journal of medical genetics
- 1 August 2003
Since its biochemical characterisation in 19911 and its genetic identification in 1995,2 677C>T allele (T allele) of the 5,10 methylenetetrahydrofolate reductase ( MTHFR ) gene has been a focus of… Expand
Diabetes mellitus and birth defects.
- A. Correa, S. Gilboa, +7 authors E. Reece
- American journal of obstetrics and gynecology
- 1 September 2008
OBJECTIVE The purpose of this study was to examine associations between diabetes mellitus and 39 birth defects. STUDY DESIGN This was a multicenter case-control study of mothers of infants who were… Expand
The spectrum of congenital anomalies of the VATER association: an international study.
- L. Botto, M. Khoury, +15 authors Y. Sumiyoshi
- Biology, Medicine
- American journal of medical genetics
- 11 July 1997
The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the… Expand
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
OBJECTIVES Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of… Expand
Maternal obesity and risk for birth defects.
OBJECTIVE Several studies have shown an increased risk for neural tube defects associated with prepregnancy maternal obesity. Because few recent studies have examined the relation between maternal… Expand
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.
- L. Botto, A. Lin, Tiffany J Riehle-Colarusso, S. Malik, A. Correa
- Birth defects research. Part A, Clinical and…
- 1 October 2007
BACKGROUND Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental… Expand
Racial and temporal variations in the prevalence of heart defects.
BACKGROUND Documenting the prevalence and trends of congenital heart defects provides useful data for pediatric practice, health-care planning, and causal research. Yet, most population-based studies… Expand
- L. Botto, C. A. Moore, M. Khoury, J. Erickson
- The New England journal of medicine
- 11 November 1999
Each year spina bifida and anencephaly, the two most common forms of neural-tube defects, occur in 1 in 1000 pregnancies in the United States1 and an estimated 300,000 or more newborns worldwide.2… Expand
Vitamin supplements and the risk for congenital anomalies other than neural tube defects
- L. Botto, R. Olney, J. Erickson
- American journal of medical genetics. Part C…
- 15 February 2004
Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural… Expand