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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
It is demonstrated that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia. Expand
Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants.
Evidence is offered that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele. Expand
Holoprosencephaly: epidemiologic and clinical characteristics of a California population.
Findings based on such a large population-based series of infants/fetuses affected by holoprosencephaly are presented, demonstrating the importance of investigating the component subgroups of this rare phenotype. Expand
Maternal Smoking and Environmental Tobacco Smoke Exposure and the Risk of Orofacial Clefts
This study confirmed the modest association between smoking and orofacial clefts that has been consistently reported, and identified specific phenotypes most strongly affected. Expand
Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring.
- G. Shaw, C. D. O'Malley, C. Wasserman, M. Tolarová, E. Lammer
- American journal of medical genetics
- 4 December 1995
Women who take multivitamins have 30-35% lower risk of delivering offspring with either conotruncal or limb defects, and among non-vitamin using women, consumption of cereal containing folic acid was also associated with reduced risk for both defects. Expand
Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally
Women who used multivitamins containing folic acid periconceptionally had a 25-50% reduction in risk for offspring with orofacial clefts compared to women who did not use such vitamins. Expand
Teratogenicity of anticonvulsant drugs.
Orofacial clefts in the National Birth Defects Prevention Study, 1997–2004
- Alicia E. Genisca, J. Frías, +7 authors S. Rasmussen
- American journal of medical genetics. Part A
- 1 June 2009
Among infants with CL or CLP, heart, limb, and other musculoskeletal defects were most commonly observed, while heart, limbs, and central nervous system defect were most common among infants with CP. Expand
Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects.
- Huiping Zhu, N. Wicker, +5 authors R. Finnell
- Biology, Medicine
- Molecular genetics and metabolism
- 1 March 2003
The results indicate that MTRR and MTR genes may interact to increase the infants' NTD risks, and did not appear to be influenced by maternal periconceptional folic acid intake. Expand
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
- Lina M. Moreno, M. Mansilla, +26 authors A. Lidral
- Biology, Medicine
- Human molecular genetics
- 15 December 2009
Data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. Expand