Willemsen R - Search Results

1

Rapid antibody test for fragile X syndrome.

Willemsen R, Mohkamsing S, de Vries B, Devys D, van den Ouweland A, Mandel JL, Galjaard H, Oostra B. Willemsen R, et al. Lancet. 1995 May 6;345(8958):1147-8. doi: 10.1016/s0140-6736(95)90979-6. Lancet. 1995. PMID: 7723547

2

Immunological localization of cystic fibrosis candidate gene products.

Hoogeveen AT, Keulemans J, Willemsen R, Scholte BJ, Bijman J, Edixhoven MJ, De Jonge HR, Galjaard H. Hoogeveen AT, et al. Among authors: willemsen r. Exp Cell Res. 1991 Apr;193(2):435-7. doi: 10.1016/0014-4827(91)90118-e. Exp Cell Res. 1991. PMID: 1706279

3

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A. Zhou XY, et al. Among authors: willemsen r. EMBO J. 1991 Dec;10(13):4041-8. doi: 10.1002/j.1460-2075.1991.tb04980.x. EMBO J. 1991. PMID: 1756715 Free PMC article.

4

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

Hoefsloot LH, Willemsen R, Kroos MA, Hoogeveen-Westerveld M, Hermans MM, Van der Ploeg AT, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Among authors: willemsen r. Biochem J. 1990 Dec 1;272(2):485-92. doi: 10.1042/bj2720485. Biochem J. 1990. PMID: 2268275 Free PMC article.

5

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GM, Palmeri S, Verheijen FW, D'Azzo A. Galjaard H, et al. Among authors: willemsen r. Enzyme. 1987;38(1-4):132-43. doi: 10.1159/000469199. Enzyme. 1987. PMID: 3126043 Review.

6

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

van Diggelen OP, Schindler D, Willemsen R, Boer M, Kleijer WJ, Huijmans JG, Blom W, Galjaard H. van Diggelen OP, et al. Among authors: willemsen r. J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424. J Inherit Metab Dis. 1988. PMID: 3149698

7

Characterization of FMR1 proteins isolated from different tissues.

Verheij C, de Graaff E, Bakker CE, Willemsen R, Willems PJ, Meijer N, Galjaard H, Reuser AJ, Oostra BA, Hoogeveen AT. Verheij C, et al. Among authors: willemsen r. Hum Mol Genet. 1995 May;4(5):895-901. doi: 10.1093/hmg/4.5.895. Hum Mol Genet. 1995. PMID: 7633450

8

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

de Graaff E, Willemsen R, Zhong N, de Die-Smulders CE, Brown WT, Freling G, Oostra B. de Graaff E, et al. Among authors: willemsen r. Am J Hum Genet. 1995 Sep;57(3):609-18. Am J Hum Genet. 1995. PMID: 7668289 Free PMC article.

9

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: willemsen r. Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213. Hum Mol Genet. 1994. PMID: 7881422

10

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: willemsen r. Biochem J. 1993 Feb 1;289 ( Pt 3)(Pt 3):687-93. doi: 10.1042/bj2890687. Biochem J. 1993. PMID: 8094613 Free PMC article.

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