van Belzen MJ - Search Results

1

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN). Losekoot M, et al. Among authors: van belzen mj. Eur J Hum Genet. 2013 May;21(5):480-6. doi: 10.1038/ejhg.2012.200. Epub 2012 Sep 19. Eur J Hum Genet. 2013. PMID: 22990145 Free PMC article.

2

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

Semaka A, Kay C, Belfroid RD, Bijlsma EK, Losekoot M, van Langen IM, van Maarle MC, Oosterloo M, Hayden MR, van Belzen MJ. Semaka A, et al. Among authors: van belzen mj, van maarle mc, van langen im. Eur J Med Genet. 2015 Jan;58(1):28-30. doi: 10.1016/j.ejmg.2014.11.005. Epub 2014 Nov 20. Eur J Med Genet. 2015. PMID: 25464109

3

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. van Rij MC, et al. Among authors: van belzen mj. Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27. Clin Genet. 2014. PMID: 23350614

4

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.

Aziz NA, van Belzen MJ, Coops ID, Belfroid RD, Roos RA. Aziz NA, et al. Among authors: van belzen mj. Eur J Med Genet. 2011 Jul-Aug;54(4):e413-8. doi: 10.1016/j.ejmg.2011.04.002. Epub 2011 Apr 23. Eur J Med Genet. 2011. PMID: 21540131

5

The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008).

van Rij MC, de Koning Gans PA, van Belzen MJ, Roos RA, Geraedts JP, De Rademaeker M, Bijlsma EK, de Die-Smulders CE. van Rij MC, et al. Among authors: van belzen mj. Clin Genet. 2014 Jan;85(1):87-95. doi: 10.1111/cge.12089. Epub 2013 Mar 21. Clin Genet. 2014. PMID: 23350580

6

Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?

Oosterloo M, Van Belzen MJ, Bijlsma EK, Roos RA. Oosterloo M, et al. Among authors: van belzen mj. J Huntingtons Dis. 2015;4(2):141-8. doi: 10.3233/JHD-140120. J Huntingtons Dis. 2015. PMID: 26397895

7

Making (anti-) sense out of huntingtin levels in Huntington disease.

Evers MM, Schut MH, Pepers BA, Atalar M, van Belzen MJ, Faull RL, Roos RA, van Roon-Mom WM. Evers MM, et al. Among authors: van roon mom wm, van belzen mj. Mol Neurodegener. 2015 Apr 28;10:21. doi: 10.1186/s13024-015-0018-7. Mol Neurodegener. 2015. PMID: 25928884 Free PMC article.

8

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

van den Oever JM, Bijlsma EK, Feenstra I, Muntjewerff N, Mathijssen IB, Bakker E, van Belzen MJ, Boon EM. van den Oever JM, et al. Among authors: van belzen mj. Prenat Diagn. 2015 Oct;35(10):945-9. doi: 10.1002/pd.4593. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25767004

9

Rubinstein-Taybi syndrome (CREBBP, EP300).

van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.

10

Reply: Late onset Huntington's disease with 29 CAG repeat expansion.

Oosterloo M, Van Belzen MJ, Bijlsma EK, Roos RA. Oosterloo M, et al. Among authors: van belzen mj. J Neurol Sci. 2016 Sep 15;368:343. doi: 10.1016/j.jns.2016.07.021. Epub 2016 Jul 22. J Neurol Sci. 2016. PMID: 27538661 No abstract available.

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