Defesche JC - Search Results

1

A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.

Stef MA, Palacios L, Olano-Martín E, Foe-A-Man C, van de Kerkhof L, Klaaijsen LN, Molano A, Schuurman EJ, Tejedor D, Defesche JC. Stef MA, et al. Among authors: defesche jc. J Mol Diagn. 2013 May;15(3):362-72. doi: 10.1016/j.jmoldx.2013.01.005. Epub 2013 Mar 26. J Mol Diagn. 2013. PMID: 23537714 Free article.

2

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

3

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

4

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

5

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P. Alonso R, et al. Among authors: defesche jc. Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6. Clin Biochem. 2009. PMID: 19318025

6

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.

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

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

9

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Fouchier SW, Dallinga-Thie GM, Meijers JC, Zelcer N, Kastelein JJ, Defesche JC, Hovingh GK. Fouchier SW, et al. Among authors: defesche jc. Circ Res. 2014 Aug 29;115(6):552-5. doi: 10.1161/CIRCRESAHA.115.304660. Epub 2014 Jul 17. Circ Res. 2014. PMID: 25035151

10

Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.

Ibrahim S, Defesche JC, Kastelein JJP. Ibrahim S, et al. Among authors: defesche jc. Expert Rev Mol Diagn. 2021 Sep;21(9):887-895. doi: 10.1080/14737159.2021.1953985. Epub 2021 Jul 21. Expert Rev Mol Diagn. 2021. PMID: 34263698 Review.

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