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Page 1
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.
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.
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.
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.
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.
Plasma amyloid-β in patients with Tangier disease.
Shahim P, Bochem AE, Mattsson N, Lautner R, Blennow K, Hovingh GK, Motazacker MM, Zetterberg H. Shahim P, et al. Among authors: motazacker mm. J Alzheimers Dis. 2013;35(2):307-12. doi: 10.3233/JAD-122425. J Alzheimers Dis. 2013. PMID: 23388172
Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
Maiwald S, Sivapalaratnam S, Motazacker MM, van Capelleveen JC, Bot I, de Jager SC, van Eck M, Jolley J, Kuiper J, Stephens J, Albers CA, Vosmeer CR, Kruize H, Geerke DP, van der Wal AC, van der Loos CM, Kastelein JJ, Trip MD, Ouwehand WH, Dallinga-Thie GM, Hovingh GK. Maiwald S, et al. Among authors: motazacker mm. PLoS One. 2014 May 30;9(5):e98289. doi: 10.1371/journal.pone.0098289. eCollection 2014. PLoS One. 2014. PMID: 24879339 Free PMC article.
A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.
Motazacker MM, Pirhonen J, van Capelleveen JC, Weber-Boyvat M, Kuivenhoven JA, Shah S, Hovingh GK, Metso J, Li S, Ikonen E, Jauhiainen M, Dallinga-Thie GM, Olkkonen VM. Motazacker MM, et al. Atherosclerosis. 2016 Jun;249:140-7. doi: 10.1016/j.atherosclerosis.2016.04.005. Epub 2016 Apr 11. Atherosclerosis. 2016. PMID: 27105157
53 results