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Page 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: motazacker mm. Atherosclerosis. 2021 Mar;321:14-20. doi: 10.1016/j.atherosclerosis.2021.02.003. Epub 2021 Feb 8. Atherosclerosis. 2021. PMID: 33601267 Free article.
Genetics of HDL-C: a causal link to atherosclerosis?
van Capelleveen JC, Bochem AE, Motazacker MM, Hovingh GK, Kastelein JJ. van Capelleveen JC, et al. Among authors: motazacker mm. Curr Atheroscler Rep. 2013 Jun;15(6):326. doi: 10.1007/s11883-013-0326-8. Curr Atheroscler Rep. 2013. PMID: 23591671 Review.
Genome-wide association studies in atherosclerosis.
Sivapalaratnam S, Motazacker MM, Maiwald S, Hovingh GK, Kastelein JJ, Levi M, Trip MD, Dallinga-Thie GM. Sivapalaratnam S, et al. Among authors: motazacker mm. Curr Atheroscler Rep. 2011 Jun;13(3):225-32. doi: 10.1007/s11883-011-0173-4. Curr Atheroscler Rep. 2011. PMID: 21369780 Free PMC article. Review.
Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.
Nikkola E, Ko A, Alvarez M, Cantor RM, Garske K, Kim E, Gee S, Rodriguez A, Muxel R, Matikainen N, Söderlund S, Motazacker MM, Borén J, Lamina C, Kronenberg F, Schneider WJ, Palotie A, Laakso M, Taskinen MR, Pajukanta P. Nikkola E, et al. Among authors: motazacker mm. Atherosclerosis. 2017 Sep;264:58-66. doi: 10.1016/j.atherosclerosis.2017.07.024. Epub 2017 Jul 22. Atherosclerosis. 2017. PMID: 28772107 Free PMC article.
Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.
Candini C, Schimmel AW, Peter J, Bochem AE, Holleboom AG, Vergeer M, Dullaart RP, Dallinga-Thie GM, Hovingh GK, Khoo KL, Fasano T, Bocchi L, Calandra S, Kuivenhoven JA, Motazacker MM. Candini C, et al. Among authors: motazacker mm. Atherosclerosis. 2010 Dec;213(2):492-8. doi: 10.1016/j.atherosclerosis.2010.08.062. Epub 2010 Aug 26. Atherosclerosis. 2010. PMID: 20880529
A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.
Maiwald S, Motazacker MM, van Capelleveen JC, Sivapalaratnam S, van der Wal AC, van der Loos C, Kastelein JJ, Ouwehand WH, Hovingh GK, Trip MD, van Buul JD, Dallinga-Thie GM. Maiwald S, et al. Among authors: motazacker mm. Eur J Hum Genet. 2016 Jan;24(1):86-91. doi: 10.1038/ejhg.2015.70. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898923 Free PMC article.
Exome sequencing in suspected monogenic dyslipidemias.
Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S. Stitziel NO, et al. Among authors: motazacker mm. Circ Cardiovasc Genet. 2015 Apr;8(2):343-50. doi: 10.1161/CIRCGENETICS.114.000776. Epub 2015 Jan 27. Circ Cardiovasc Genet. 2015. PMID: 25632026 Free PMC article.
53 results