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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. van Tintelen JP, et al. Among authors: entius mm. Circulation. 2006 Apr 4;113(13):1650-8. doi: 10.1161/CIRCULATIONAHA.105.609719. Epub 2006 Mar 27. Circulation. 2006. PMID: 16567567
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.
Jennes I, Entius MM, Van Hul E, Parra A, Sangiorgi L, Wuyts W. Jennes I, et al. Among authors: entius mm. J Mol Diagn. 2008 Jan;10(1):85-92. doi: 10.2353/jmoldx.2008.070086. Epub 2007 Dec 28. J Mol Diagn. 2008. PMID: 18165274 Free PMC article.
Peutz-Jeghers syndrome: 78-year follow-up of the original family.
Westerman AM, Entius MM, de Baar E, Boor PP, Koole R, van Velthuysen ML, Offerhaus GJ, Lindhout D, de Rooij FW, Wilson JH. Westerman AM, et al. Among authors: entius mm. Lancet. 1999 Apr 10;353(9160):1211-5. doi: 10.1016/s0140-6736(98)08018-0. Lancet. 1999. PMID: 10217080
Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations.
Entius MM, Westerman AM, Giardiello FM, van Velthuysen ML, Polak MM, Slebos RJ, Wilson JH, Hamilton SR, Offerhaus GJ. Entius MM, et al. Gut. 1997 Sep;41(3):320-2. doi: 10.1136/gut.41.3.320. Gut. 1997. PMID: 9378385 Free PMC article.
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.
Westerman AM, Entius MM, Boor PP, Koole R, de Baar E, Offerhaus GJ, Lubinski J, Lindhout D, Halley DJ, de Rooij FW, Wilson JH. Westerman AM, et al. Among authors: entius mm. Hum Mutat. 1999;13(6):476-81. doi: 10.1002/(SICI)1098-1004(1999)13:6<476::AID-HUMU7>3.0.CO;2-2. Hum Mutat. 1999. PMID: 10408777
16 results