Defesche JC - Search Results

1

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.

Versmissen J, Oosterveer DM, Yazdanpanah M, Dehghan A, Hólm H, Erdman J, Aulchenko YS, Thorleifsson G, Schunkert H, Huijgen R, Vongpromek R, Uitterlinden AG, Defesche JC, van Duijn CM, Mulder M, Dadd T, Karlsson HD, Ordovas J, Kindt I, Jarman A, Hofman A, van Vark-van der Zee L, Blommesteijn-Touw AC, Kwekkeboom J, Liem AH, van der Ouderaa FJ, Calandra S, Bertolini S, Averna M, Langslet G, Ose L, Ros E, Almagro F, de Leeuw PW, Civeira F, Masana L, Pintó X, Simoons ML, Schinkel AF, Green MR, Zwinderman AH, Johnson KJ, Schaefer A, Neil A, Witteman JC, Humphries SE, Kastelein JJ, Sijbrands EJ. Versmissen J, et al. Among authors: defesche jc. Eur J Hum Genet. 2015 Mar;23(3):381-7. doi: 10.1038/ejhg.2014.101. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916650 Free PMC article.

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

[The treatment of familial hypercholesterolemia].

Lansberg PJ, Kastelein JJ, Defesche JC, ten Cate JW. Lansberg PJ, et al. Among authors: defesche jc. Ned Tijdschr Geneeskd. 1992 Apr 11;136(15):734-8. Ned Tijdschr Geneeskd. 1992. PMID: 1560866 Review. Dutch. No abstract available.

4

Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.

Pimstone SN, Gagné SE, Gagné C, Lupien PJ, Gaudet D, Williams RR, Kotze M, Reymer PW, Defesche JC, Kastelein JJ, et al. Pimstone SN, et al. Among authors: defesche jc. Arterioscler Thromb Vasc Biol. 1995 Oct;15(10):1704-12. doi: 10.1161/01.atv.15.10.1704. Arterioscler Thromb Vasc Biol. 1995. PMID: 7583547

5

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.

Defesche JC, van Diermen DE, Lansberg PJ, Lamping RJ, Reymer PW, Hayden MR, Kastelein JJ. Defesche JC, et al. Hum Genet. 1993 Dec;92(6):567-70. doi: 10.1007/BF00420940. Hum Genet. 1993. PMID: 7903269

6

Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100.

Stalenhoef AF, Defesche JC, Kleinveld HA, Demacker PN, Kastelein JJ. Stalenhoef AF, et al. Among authors: defesche jc. Arterioscler Thromb. 1994 Mar;14(3):489-93. doi: 10.1161/01.atv.14.3.489. Arterioscler Thromb. 1994. PMID: 8123657

7

Screening for familial defective apolipoprotein B-100 with improved U937 monocyte proliferation assay.

Van den Broek AJ, Hollaar L, Schaefer HI, Van der Laarse A, Schuster H, Defesche JC, Kastelein JJ, Van 't Hooft FM. Van den Broek AJ, et al. Among authors: defesche jc. Clin Chem. 1994 Mar;40(3):395-9. Clin Chem. 1994. PMID: 8131274

8

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.

Defesche JC, Pricker KL, Hayden MR, van der Ende BE, Kastelein JJ. Defesche JC, et al. Arch Intern Med. 1993 Oct 25;153(20):2349-56. Arch Intern Med. 1993. PMID: 8215738

9

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

10

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.

Lombardi P, Kamerling SW, Defesche JC, Kastelein JJ, Havekes LM. Lombardi P, et al. Among authors: defesche jc. Clin Genet. 1996 Dec;50(6):525-6. doi: 10.1111/j.1399-0004.1996.tb02727.x. Clin Genet. 1996. PMID: 9147888 No abstract available.

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