Mariman EC - Search Results

1

Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring.

van der Put NM, van den Heuvel LP, Steegers-Theunissen RP, Trijbels FJ, Eskes TK, Mariman EC, den Heyer M, Blom HJ. van der Put NM, et al. Among authors: mariman ec. J Mol Med (Berl). 1996 Nov;74(11):691-4. doi: 10.1007/s001090050073. J Mol Med (Berl). 1996. PMID: 8956155

2

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. van der Put NM, et al. Among authors: mariman ec. Lancet. 1995 Oct 21;346(8982):1070-1. doi: 10.1016/s0140-6736(95)91743-8. Lancet. 1995. PMID: 7564788 Free article.

3

Altered folate and vitamin B12 metabolism in families with spina bifida offspring.

van der Put NM, Thomas CM, Eskes TK, Trijbels FJ, Steegers-Theunissen RP, Mariman EC, De Graaf-Hess A, Smeitink JA, Blom HJ. van der Put NM, et al. Among authors: mariman ec. QJM. 1997 Aug;90(8):505-10. doi: 10.1093/qjmed/90.8.505. QJM. 1997. PMID: 9327028 Free article.

4

Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida.

Groenen PM, Peer PG, Wevers RA, Swinkels DW, Franke B, Mariman EC, Steegers-Theunissen RP. Groenen PM, et al. Among authors: mariman ec. Am J Obstet Gynecol. 2003 Dec;189(6):1713-9. doi: 10.1016/s0002-9378(03)00807-x. Am J Obstet Gynecol. 2003. PMID: 14710103

5

Spina bifida and genetic factors related to myo-inositol, glucose, and zinc.

Groenen PM, Klootwijk R, Schijvenaars MM, Straatman H, Mariman EC, Franke B, Steegers-Theunissen RP. Groenen PM, et al. Among authors: mariman ec. Mol Genet Metab. 2004 Jun;82(2):154-61. doi: 10.1016/j.ymgme.2004.03.007. Mol Genet Metab. 2004. PMID: 15172003

6

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, van der Put NM, Geurds MP, Heil SG, Trijbels FJ, Hamel BC, Mariman EC, Blom HJ. Hol FA, et al. Among authors: mariman ec. Clin Genet. 1998 Feb;53(2):119-25. doi: 10.1111/j.1399-0004.1998.tb02658.x. Clin Genet. 1998. PMID: 9611072

7

Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.

Franke B, Klootwijk R, Lemmers B, de Kovel CG, Steegers-Theunissen RP, Mariman EC. Franke B, et al. Among authors: mariman ec. Birth Defects Res A Clin Mol Teratol. 2003 Dec;67(12):979-84. doi: 10.1002/bdra.10132. Birth Defects Res A Clin Mol Teratol. 2003. PMID: 14745918

8

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA. Triepels RH, et al. Among authors: mariman ec. Ann Neurol. 1999 Jun;45(6):787-90. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6. Ann Neurol. 1999. PMID: 10360771

9

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.

Klootwijk R, Groenen P, Schijvenaars M, Hol F, Hamel B, Straatman H, Steegers-Theunissen R, Mariman E, Franke B. Klootwijk R, et al. Am J Med Genet A. 2004 Jan 1;124A(1):40-7. doi: 10.1002/ajmg.a.20402. Am J Med Genet A. 2004. PMID: 14679585

10

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

Hol FA, Geurds MP, Chatkupt S, Shugart YY, Balling R, Schrander-Stumpel CT, Johnson WG, Hamel BC, Mariman EC. Hol FA, et al. Among authors: mariman ec. J Med Genet. 1996 Aug;33(8):655-60. doi: 10.1136/jmg.33.8.655. J Med Genet. 1996. PMID: 8863157 Free PMC article.

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