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RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: motazacker mm. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110.
Hengeveld PJ, Ertem YE, Dubois JMN, Mellink CHM, van der Kevie-Kersemaekers AM, Evers LM, Heezen K, Kolijn PM, Mook ORF, Motazacker MM, Nasserinejad K, Kersting S, Westerweel PE, Niemann CU, Kater AP, Langerak AW, Levin MD. Hengeveld PJ, et al. Among authors: motazacker mm. Leukemia. 2022 Jul;36(7):1935-1938. doi: 10.1038/s41375-022-01600-6. Epub 2022 May 18. Leukemia. 2022. PMID: 35585140 No abstract available.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: motazacker mm. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC 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.
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.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Jeanne M, et al. Among authors: motazacker mm. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. Am J Hum Genet. 2021. PMID: 33894126 Free PMC article.
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.
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Barrie ES, et al. Among authors: motazacker mm. Am J Med Genet A. 2020 May;182(5):1201-1208. doi: 10.1002/ajmg.a.61512. Epub 2020 Feb 25. Am J Med Genet A. 2020. PMID: 32100459
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.
53 results