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pro vyhledávání: '"Katy Hoess"'
Autor:
Katy Hoess, Liselotte E. Jensen, Sandrine Barbaux, Alexander S. Whitehead, Sven Fraterman, Laura E. Mitchell
Publikováno v:
Human Genetics. 115:475-482
The transcription factor T is essential for mesoderm formation and axial development during embryogenesis. Embryonic genotype for a single-nucleotide polymorphism in intron 7 of T ( TIVS7 T/C) has been associated with the risk of spina bifida in some
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 73(7)
BACKGROUND The risk of having a child with a neural tube defect (NTD) can be reduced by maternal, periconceptional supplementation with folic acid, but the underlying folate-dependent protective mechanism remains unclear. N-acetyltransferase 1 is inv
Autor:
Liselotte E. Jensen, Katy Hoess, Alexander S. Whitehead, Amelia M. Wall, Caroline F. Thorn, Michelle Cook, Laura E. Mitchell
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 70(6)
BACKGROUND There is compelling evidence that the risk of spina bifida, a malformation of the caudal neural tube, is associated with maternal and/or embryonic disturbances in folate/homocysteine metabolism. Hence, functional variants of genes that inf
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 70(3)
BACKGROUND: There is substantial evidence that the risk of spina bifida, a malformation of the caudal neural tube, may be associated with maternal or embryonic disturbances in the folate–homocysteine metabolic axis. Hence, variants of genes that in
Publikováno v:
Current cardiology reports. 4(1)
Congenital heart disease (CHD), which occurs in about 0.7% of all live-born children, is the leading cause of death from birth defects. Understandably, parents of patients, and increasingly patients themselves, are interested in the risk that further
Autor:
Katy Hoess, Sandrine Barbaux, Laura E. Mitchell, Marie Therese Doolin, Maeve McDonnell, Alexander S. Whitehead
Publikováno v:
The American Journal of Human Genetics. (5):1222-1226
There is currently considerable interest in the relationship between variation in genes that are involved in the folate-homocysteine metabolic axis and the risk of spina bifida. The evaluation of this relationship is, however, complicated by the pote