Willemsen R - Search Results

1

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

Silva CT, Zorkoltseva IV, Niemeijer MN, van den Berg ME, Amin N, Demirkan A, van Leeuwen E, Iglesias AI, Piñeros-Hernández LB, Restrepo CM, Kors JA, Kirichenko AV, Willemsen R, Oostra BA, Stricker BH, Uitterlinden AG, Axenovich TI, van Duijn CM, Isaacs A. Silva CT, et al. Among authors: willemsen r. BMC Med Genomics. 2018 Mar 5;11(1):22. doi: 10.1186/s12920-018-0339-9. BMC Med Genomics. 2018. PMID: 29506515 Free PMC article.

2

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.

3

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

4

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.

5

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.

Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA. Verheij C, et al. Among authors: willemsen r. Nature. 1993 Jun 24;363(6431):722-4. doi: 10.1038/363722a0. Nature. 1993. PMID: 8515814

6

Association of FMRP with ribosomal precursor particles in the nucleolus.

Willemsen R, Bontekoe C, Tamanini F, Galjaard H, Hoogeveen A, Oostra B. Willemsen R, et al. Biochem Biophys Res Commun. 1996 Aug 5;225(1):27-33. doi: 10.1006/bbrc.1996.1126. Biochem Biophys Res Commun. 1996. PMID: 8769090 Free article.

7

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

de Graaff E, de Vries BB, Willemsen R, van Hemel JO, Mohkamsing S, Oostra BA, van den Ouweland AM. de Graaff E, et al. Among authors: willemsen r. Am J Med Genet. 1996 Aug 9;64(2):302-8. doi: 10.1002/(SICI)1096-8628(19960809)64:2<302::AID-AJMG14>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8844070

8

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

de Vries BB, Jansen CC, Duits AA, Verheij C, Willemsen R, van Hemel JO, van den Ouweland AM, Niermeijer MF, Oostra BA, Halley DJ. de Vries BB, et al. Among authors: willemsen r. J Med Genet. 1996 Dec;33(12):1007-10. doi: 10.1136/jmg.33.12.1007. J Med Genet. 1996. PMID: 9004132 Free PMC article. Review.

9

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

Willemsen R, Los F, Mohkamsing S, van den Ouweland A, Deelen W, Galjaard H, Oostra B. Willemsen R, et al. J Med Genet. 1997 Mar;34(3):250-1. doi: 10.1136/jmg.34.3.250. J Med Genet. 1997. PMID: 9132500 Free PMC article.

10

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.

Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, Hoogeveen AT. Tamanini F, et al. Among authors: willemsen r. Hum Mol Genet. 1997 Aug;6(8):1315-22. doi: 10.1093/hmg/6.8.1315. Hum Mol Genet. 1997. PMID: 9259278 Free article.

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