Defesche JC - Search Results

1

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.

Reeskamp LF, Hartgers ML, Peter J, Dallinga-Thie GM, Zuurbier L, Defesche JC, Grefhorst A, Hovingh GK. Reeskamp LF, et al. Among authors: defesche jc. Circ Genom Precis Med. 2018 Dec;11(12):e002385. doi: 10.1161/CIRCGEN.118.002385. Circ Genom Precis Med. 2018. PMID: 30562117

2

Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.

Defesche JC, van de Ree MA, Kastelein JJ, van Diermen DE, Janssens NW, van Doormaal JJ, Hayden MR. Defesche JC, et al. Clin Genet. 1992 Dec;42(6):273-80. Clin Genet. 1992. PMID: 1493640

3

Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia.

Defesche JC, Lansberg PJ, Reymer PW, Lamping RJ, Kastelein JJ. Defesche JC, et al. Neth J Med. 1993 Feb;42(1-2):53-60. Neth J Med. 1993. PMID: 8446226

4

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.

Wittekoek ME, Pimstone SN, Reymer PW, Feuth L, Botma GJ, Defesche JC, Prins M, Hayden MR, Kastelein JJ. Wittekoek ME, et al. Among authors: defesche jc. Circulation. 1998 Mar 3;97(8):729-35. doi: 10.1161/01.cir.97.8.729. Circulation. 1998. PMID: 9498535

5

A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia.

Wittekoek ME, Moll E, Pimstone SN, Trip MD, Lansberg PJ, Defesche JC, van Doormaal JJ, Hayden MR, Kastelein JJ. Wittekoek ME, et al. Among authors: defesche jc. Arterioscler Thromb Vasc Biol. 1999 Nov;19(11):2708-13. doi: 10.1161/01.atv.19.11.2708. Arterioscler Thromb Vasc Biol. 1999. PMID: 10559015

6

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

7

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

8

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.

9

Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population.

Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, Defesche JC. Umans-Eckenhausen MA, et al. Among authors: defesche jc. Circulation. 2002 Dec 10;106(24):3031-6. doi: 10.1161/01.cir.0000041253.61683.08. Circulation. 2002. PMID: 12473547

10

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

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