Defesche JC - Search Results

1

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Cuchel M, et al. Among authors: defesche jc. Eur Heart J. 2014 Aug 21;35(32):2146-57. doi: 10.1093/eurheartj/ehu274. Epub 2014 Jul 22. Eur Heart J. 2014. PMID: 25053660 Free PMC article.

2

[Is detection and treatment of familial hypercholesterolemia indicated in children?].

Bakker HD, Wiegman A, Defesche JC, Kastelein JJ. Bakker HD, et al. Among authors: defesche jc. Ned Tijdschr Geneeskd. 1997 Dec 27;141(52):2548-51. Ned Tijdschr Geneeskd. 1997. PMID: 9555154 Dutch.

3

Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children.

Wiegman A, Rodenburg J, de Jongh S, Defesche JC, Bakker HD, Kastelein JJ, Sijbrands EJ. Wiegman A, et al. Among authors: defesche jc. Circulation. 2003 Mar 25;107(11):1473-8. doi: 10.1161/01.cir.0000058166.99182.54. Circulation. 2003. PMID: 12654602

4

Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study.

Koeijvoets KC, Wiegman A, Rodenburg J, Defesche JC, Kastelein JJ, Sijbrands EJ. Koeijvoets KC, et al. Among authors: defesche jc. Atherosclerosis. 2005 May;180(1):93-9. doi: 10.1016/j.atherosclerosis.2004.10.042. Epub 2004 Dec 19. Atherosclerosis. 2005. PMID: 15823280

5

Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.

van Aalst-Cohen ES, Jansen AC, Boekholdt SM, Tanck MW, Fontecha MR, Cheng S, Li J, Defesche JC, Kuivenhoven JA, Kastelein JJ. van Aalst-Cohen ES, et al. Among authors: defesche jc. Eur J Hum Genet. 2005 Oct;13(10):1137-42. doi: 10.1038/sj.ejhg.5201467. Eur J Hum Genet. 2005. PMID: 16030523

6

Diagnosing familial hypercholesterolaemia: the relevance of genetic testing.

van Aalst-Cohen ES, Jansen AC, Tanck MW, Defesche JC, Trip MD, Lansberg PJ, Stalenhoef AF, Kastelein JJ. van Aalst-Cohen ES, et al. Among authors: defesche jc. Eur Heart J. 2006 Sep;27(18):2240-6. doi: 10.1093/eurheartj/ehl113. Epub 2006 Jul 6. Eur Heart J. 2006. PMID: 16825289

7

Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia.

Souverein OW, Defesche JC, Zwinderman AH, Kastelein JJ, Tanck MW. Souverein OW, et al. Among authors: defesche jc. Eur Heart J. 2007 Feb;28(3):299-304. doi: 10.1093/eurheartj/ehl366. Epub 2006 Nov 7. Eur Heart J. 2007. PMID: 17090611

8

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

Defesche JC, Schuurman EJ, Klaaijsen LN, Khoo KL, Wiegman A, Stalenhoef AF. Defesche JC, et al. Clin Genet. 2008 Jun;73(6):573-8. doi: 10.1111/j.1399-0004.2008.00999.x. Epub 2008 Apr 8. Clin Genet. 2008. PMID: 18400033

9

Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia.

van der Net JB, van Etten J, Yazdanpanah M, Dallinga-Thie GM, Kastelein JJ, Defesche JC, Koopmans RP, Steyerberg EW, Sijbrands EJ. van der Net JB, et al. Among authors: defesche jc. Eur Heart J. 2008 Jun;29(11):1370-6. doi: 10.1093/eurheartj/ehn154. Epub 2008 Apr 14. Eur Heart J. 2008. PMID: 18413308

10

Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

Kolansky DM, Cuchel M, Clark BJ, Paridon S, McCrindle BW, Wiegers SE, Araujo L, Vohra Y, Defesche JC, Wilson JM, Rader DJ. Kolansky DM, et al. Among authors: defesche jc. Am J Cardiol. 2008 Dec 1;102(11):1438-43. doi: 10.1016/j.amjcard.2008.07.035. Epub 2008 Sep 11. Am J Cardiol. 2008. PMID: 19026292

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

156 results

Search Page