Associated Papers
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene.
Desai M et al.
Computational Biology and Chemistry, 2017
Gene expression profiling of hereditary exencephaly in chickens.
Jaszczak K et al.
Animal Genetics, 2006
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
De Marco P et al.
Journal of Human Genetics, 2006
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects.
Stegmann K et al.
Teratology, 2001
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Hol FA et al.
Clinical Genetics, 1998
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