Defesche JC - Search Results

1

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.

Reeskamp LF, Volta A, Zuurbier L, Defesche JC, Hovingh GK, Grefhorst A. Reeskamp LF, et al. Among authors: defesche jc. J Clin Lipidol. 2020 Mar-Apr;14(2):207-217.e7. doi: 10.1016/j.jacl.2020.01.007. Epub 2020 Jan 29. J Clin Lipidol. 2020. PMID: 32088153

2

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, Havekes LM, Kastelein JJ. Lombardi MP, et al. Among authors: defesche jc. Clin Genet. 2000 Feb;57(2):116-24. doi: 10.1034/j.1399-0004.2000.570205.x. Clin Genet. 2000. PMID: 10735632

3

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP. Fouchier SW, et al. Among authors: defesche jc. Hum Genet. 2001 Dec;109(6):602-15. doi: 10.1007/s00439-001-0628-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810272

4

Phenotypic variability in familial hypercholesterolaemia: an update.

Jansen AC, van Wissen S, Defesche JC, Kastelein JJ. Jansen AC, et al. Among authors: defesche jc. Curr Opin Lipidol. 2002 Apr;13(2):165-71. doi: 10.1097/00041433-200204000-00008. Curr Opin Lipidol. 2002. PMID: 11891419 Review.

5

Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.

van de Kerkhof L, Van Eijk SJ, Defesche JC, Dos-Santos JE. van de Kerkhof L, et al. Among authors: defesche jc. Genet Test. 2003 Spring;7(1):77-9. doi: 10.1089/109065703321560994. Genet Test. 2003. PMID: 12820708

6

Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.

Fouchier SW, Defesche JC, Kastelein JJ, Sijbrands EJ. Fouchier SW, et al. Among authors: defesche jc. Semin Vasc Med. 2004 Aug;4(3):259-64. doi: 10.1055/s-2004-861493. Semin Vasc Med. 2004. PMID: 15630635

7

Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia.

Jansen AC, van Aalst-Cohen ES, Tanck MW, Cheng S, Fontecha MR, Li J, Defesche JC, Kastelein JJ. Jansen AC, et al. Among authors: defesche jc. Arterioscler Thromb Vasc Biol. 2005 Jul;25(7):1475-81. doi: 10.1161/01.ATV.0000168909.44877.a7. Epub 2005 May 5. Arterioscler Thromb Vasc Biol. 2005. PMID: 15879303

8

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

9

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC. Fouchier SW, et al. Among authors: defesche jc. Hum Mutat. 2005 Dec;26(6):550-6. doi: 10.1002/humu.20256. Hum Mutat. 2005. PMID: 16250003

10

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

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