Willemsen R - Search Results

1

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C. Jacquemont S, et al. Among authors: willemsen r. Hum Mol Genet. 2018 Jun 15;27(12):2039-2051. doi: 10.1093/hmg/ddy099. Hum Mol Genet. 2018. PMID: 29590342 Free PMC article.

2

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

3

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.

4

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

5

Characterization and localization of the Huntington disease gene product.

Hoogeveen AT, Willemsen R, Meyer N, de Rooij KE, Roos RA, van Ommen GJ, Galjaard H. Hoogeveen AT, et al. Among authors: willemsen r. Hum Mol Genet. 1993 Dec;2(12):2069-73. doi: 10.1093/hmg/2.12.2069. Hum Mol Genet. 1993. PMID: 8111375

6

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

7

Normal phenotype in two brothers with a full FMR1 mutation.

Smeets HJ, Smits AP, Verheij CE, Theelen JP, Willemsen R, van de Burgt I, Hoogeveen AT, Oosterwijk JC, Oostra BA. Smeets HJ, et al. Among authors: willemsen r. Hum Mol Genet. 1995 Nov;4(11):2103-8. doi: 10.1093/hmg/4.11.2103. Hum Mol Genet. 1995. PMID: 8589687

8

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

9

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.

10

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, Sistermans E, Galjaard H, Oostra BA. Willemsen R, et al. Hum Genet. 1997 Mar;99(3):308-11. doi: 10.1007/s004390050363. Hum Genet. 1997. PMID: 9050914 Free article.

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