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Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.
Franken R, den Hartog AW, Radonic T, Micha D, Maugeri A, van Dijk FS, Meijers-Heijboer HE, Timmermans J, Scholte AJ, van den Berg MP, Groenink M, Mulder BJ, Zwinderman AH, de Waard V, Pals G. Franken R, et al. Among authors: maugeri a. Circ Cardiovasc Genet. 2015 Apr;8(2):383-8. doi: 10.1161/CIRCGENETICS.114.000950. Epub 2015 Jan 22. Circ Cardiovasc Genet. 2015. PMID: 25613431 Clinical Trial.
Osteogenesis Imperfecta: A Review with Clinical Examples.
van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Among authors: maugeri a. Mol Syndromol. 2011 Dec;2(1):1-20. doi: 10.1159/000332228. Epub 2011 Oct 12. Mol Syndromol. 2011. PMID: 22570641 Free PMC article.
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Among authors: maugeri a. Ned Tijdschr Geneeskd. 2012;156(21):A4585. Ned Tijdschr Geneeskd. 2012. PMID: 22617071 Review. Dutch.
Clinical utility gene card for: osteogenesis imperfecta.
van Dijk FS, Dalgleish R, Malfait F, Maugeri A, Rusinska A, Semler O, Symoens S, Pals G. van Dijk FS, et al. Among authors: maugeri a. Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012.210. Epub 2012 Sep 26. Eur J Hum Genet. 2013. PMID: 23010751 Free PMC article. No abstract available.
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G. van Dijk FS, et al. Among authors: maugeri a. N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088043 Free article.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF. Monroe GR, et al. Among authors: maugeri a. Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845371
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, Milewicz DM, Pals G, van Dijk FS. Micha D, et al. Among authors: maugeri a. Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10. Hum Mutat. 2015. PMID: 26247899
239 results