van Belzen MJ - Search Results

1

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.

Quarrell OW, Clarke AJ, Compton C, de Die-Smulders CEM, Fryer A, Jenkins S, Lahiri N, MacLeod R, Miedzybrodzka Z, Morrison PJ, Musgrave H, O'Driscoll M, Strong M, van Belzen MJ, Vermeer S, Verschuuren-Bemelmans CC, Bijlsma EK. Quarrell OW, et al. Among authors: van belzen mj. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):35-39. doi: 10.1002/ajmg.b.32582. Epub 2017 Nov 2. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29095566 Free article.

2

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

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

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

5

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

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

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.

8

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.

9

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

van Rij MC, Hollink IHIM, Terhal PA, Kant SG, Ruivenkamp C, van Haeringen A, Kievit JA, van Belzen MJ. van Rij MC, et al. Among authors: van belzen mj. Am J Med Genet A. 2018 May;176(5):1212-1215. doi: 10.1002/ajmg.a.38666. Am J Med Genet A. 2018. PMID: 29681085

10

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network; Tabrizi SJ, Roos RAC, Aziz NA. Stuitje G, et al. Among authors: van belzen mj. Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122. Brain. 2017. PMID: 28549075 No abstract available.

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