Dijkstra I - Search Results

1

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng XJ, Pembrey ME, Malcolm S. Clayton-Smith J, et al. Among authors: dijkstra i. Am J Med Genet. 1992 Sep 15;44(2):256-60. doi: 10.1002/ajmg.1320440236. Am J Med Genet. 1992. PMID: 1360768

2

Recurrence risk in the Angelman ("happy puppet") syndrome.

Willems PJ, Dijkstra I, Brouwer OF, Smit GP. Willems PJ, et al. Among authors: dijkstra i. Am J Med Genet. 1987 Aug;27(4):773-80. doi: 10.1002/ajmg.1320270405. Am J Med Genet. 1987. PMID: 3321989 Review.

3

X-linked hydrocephalus.

Willems PJ, Brouwer OF, Dijkstra I, Wilmink J. Willems PJ, et al. Among authors: dijkstra i. Am J Med Genet. 1987 Aug;27(4):921-8. doi: 10.1002/ajmg.1320270419. Am J Med Genet. 1987. PMID: 3425602

4

[Angelman's happy puppet syndrome].

Brouwer OF, Buntinx IM, Willems PJ, Dijkstra I. Brouwer OF, et al. Among authors: dijkstra i. Tijdschr Kindergeneeskd. 1990 Jun;58(3):89-91. Tijdschr Kindergeneeskd. 1990. PMID: 2375041 Dutch.

5

Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome.

Willems PJ, Dijkstra I, Schierbeek HH, Berger R, Smit GP. Willems PJ, et al. Among authors: dijkstra i. Am J Med Genet. 1988 Aug;30(4):865-73. doi: 10.1002/ajmg.1320300402. Am J Med Genet. 1988. PMID: 3189409

6

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.

Willems PJ, Dijkstra I, Van der Auwera BJ, Vits L, Coucke P, Raeymaekers P, Van Broeckhoven C, Consalez GG, Freeman SB, Warren ST, et al. Willems PJ, et al. Among authors: dijkstra i. Genomics. 1990 Oct;8(2):367-70. doi: 10.1016/0888-7543(90)90294-5. Genomics. 1990. PMID: 1979056

7

Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid.

van de Beek MC, Dijkstra IM, Kemp S. van de Beek MC, et al. Methods Mol Biol. 2017;1595:45-54. doi: 10.1007/978-1-4939-6937-1_5. Methods Mol Biol. 2017. PMID: 28409450

8

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S. Schackmann MJ, et al. Mol Genet Metab. 2016 Jun;118(2):123-7. doi: 10.1016/j.ymgme.2016.03.009. Epub 2016 Apr 3. Mol Genet Metab. 2016. PMID: 27067449

9

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJ, Kemp S. Ofman R, et al. EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061. EMBO Mol Med. 2010. PMID: 20166112 Free PMC article.

10

Bezafibrate for X-linked adrenoleukodystrophy.

Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S. Engelen M, et al. PLoS One. 2012;7(7):e41013. doi: 10.1371/journal.pone.0041013. Epub 2012 Jul 20. PLoS One. 2012. PMID: 22911730 Free PMC article. Clinical Trial.

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