Defesche JC - Search Results

1

Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.

Reeskamp LF, Balvers M, Peter J, van de Kerkhof L, Klaaijsen LN, Motazacker MM, Grefhorst A, van Riel NAW, Hovingh GK, Defesche JC, Zuurbier L. Reeskamp LF, et al. Among authors: defesche jc. Atherosclerosis. 2021 Mar;321:14-20. doi: 10.1016/j.atherosclerosis.2021.02.003. Epub 2021 Feb 8. Atherosclerosis. 2021. PMID: 33601267 Free article.

2

Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].

Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J Jr. Yu L, et al. Among authors: defesche jc. Atherosclerosis. 1999 Sep;146(1):125-31. doi: 10.1016/s0021-9150(99)00109-4. Atherosclerosis. 1999. PMID: 10487495

3

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

4

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

Khoo KL, van Acker P, Defesche JC, Tan H, van de Kerkhof L, Heijnen-van Eijk SJ, Kastelein JJ, Deslypere JP. Khoo KL, et al. Among authors: defesche jc. Clin Genet. 2000 Aug;58(2):98-105. doi: 10.1034/j.1399-0004.2000.580202.x. Clin Genet. 2000. PMID: 11005141

5

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

6

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

7

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

8

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.

Fouchier SW, Sankatsing RR, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein JJ, Defesche JC. Fouchier SW, et al. Among authors: defesche jc. J Med Genet. 2005 Apr;42(4):e23. doi: 10.1136/jmg.2004.029454. J Med Genet. 2005. PMID: 15805152 Free PMC article.

9

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

10

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

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