van Maarle MC - Search Results

1

How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views.

van Maarle MC, Stouthard ME, Marang-van de Mheen PJ, Klazinga NS, Bonsel GJ. van Maarle MC, et al. Community Genet. 2001;4(4):244-52. doi: 10.1159/000064200. Community Genet. 2001. PMID: 12751487

2

Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in The Netherlands.

Marang-van de Mheen PJ, van Maarle MC, Stouthard ME. Marang-van de Mheen PJ, et al. Among authors: van maarle mc. J Epidemiol Community Health. 2002 Feb;56(2):145-7. doi: 10.1136/jech.56.2.145. J Epidemiol Community Health. 2002. PMID: 11812815 Free PMC article.

3

Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

Van Maarle MC, Stouthard ME, Marang-Van De Mheen PJ, Klazinga NS, Bonsel GJ. Van Maarle MC, et al. BMJ. 2002 Jun 8;324(7350):1367-8. doi: 10.1136/bmj.324.7350.1367. BMJ. 2002. PMID: 12052805 Free PMC article. No abstract available.

4

Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia.

van Maarle MC, Stouthard ME, Bonsel GJ. van Maarle MC, et al. Am J Med Genet A. 2003 Jan 15;116A(2):136-43. doi: 10.1002/ajmg.a.10061. Am J Med Genet A. 2003. PMID: 12494431

5

Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants.

van Maarle MC, Stouthard ME, Bonsel GJ. van Maarle MC, et al. J Med Genet. 2003 Jan;40(1):e3. doi: 10.1136/jmg.40.1.e3. J Med Genet. 2003. PMID: 12525551 Free PMC article. No abstract available.

6

Targeted carrier screening for four recessive disorders: high detection rate within a founder population.

Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC. Mathijssen IB, et al. Among authors: van maarle mc, van eeten nijman jm. Eur J Med Genet. 2015 Mar;58(3):123-8. doi: 10.1016/j.ejmg.2015.01.004. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641760

7

With expanded carrier screening, founder populations run the risk of being overlooked.

Mathijssen IB, van Maarle MC, Kleiss IIM, Redeker EJW, Ten Kate LP, Henneman L, Meijers-Heijboer H. Mathijssen IB, et al. Among authors: van maarle mc. J Community Genet. 2017 Oct;8(4):327-333. doi: 10.1007/s12687-017-0309-5. Epub 2017 May 29. J Community Genet. 2017. PMID: 28555434 Free PMC article.

8

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.

Mathijssen IB, Holtkamp KCA, Ottenheim CPE, van Eeten-Nijman JMC, Lakeman P, Meijers-Heijboer H, van Maarle MC, Henneman L. Mathijssen IB, et al. Among authors: van maarle mc, van eeten nijman jmc. Eur J Hum Genet. 2018 Feb;26(2):166-175. doi: 10.1038/s41431-017-0056-4. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321671 Free PMC article.

9

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.

Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: van maarle mc, van rijn rr. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444

10

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Holtkamp KC, van Maarle MC, Schouten MJ, Dondorp WJ, Lakeman P, Henneman L. Holtkamp KC, et al. Among authors: van maarle mc. Eur J Hum Genet. 2016 Feb;24(2):171-7. doi: 10.1038/ejhg.2015.97. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966636 Free PMC article.

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