M.P.A. Geurds

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate‐dehydrogenase, methenyltetrahydrofolate‐cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

Frans A. Hol, Nathalie MJ van der Put, M.P.A. Geurds et al. · Clinical Genetics · 1998 · 155 citations

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Frans A. Hol, M.P.A. Geurds, Sansnee Chatkupt et al. · Journal of Medical Genetics · 1996 · 74 citations · Full text

Pax Genes, Genetics, Pathology +19

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Frans A. Hol, Ben C.J. Hamel, M.P.A. Geurds et al. · Journal of Medical Genetics · 1995 · 60 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +15

Absence of linkage between familial neural tube defects and PAX3 gene.

Sansnee Chatkupt, Frans A. Hol, Yin Yao Shugart et al. · Journal of Medical Genetics · 1995 · 34 citations · Full text

Brain Development, Genetics, Pathology +17

Improving the polymorphism content of the 3′ UTR of the human IGF2R gene

Frans A. Hol, M.P.A. Geurds, Ben C.J. Hamel et al. · Human Molecular Genetics · 1992 · 33 citations

Human Growth, Human Igf2r Gene, Genetics +22