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Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Among authors: smeets df. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Clinical spectrum of ataxia-telangiectasia in adulthood.
Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M. Verhagen MM, et al. Among authors: smeets df. Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17. Neurology. 2009. PMID: 19535770
Nijmegen breakage syndrome.
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.
Nijmegen Breakage syndrome: a progress report.
Weemaes CM, Smeets DF, van der Burgt CJ. Weemaes CM, et al. Among authors: smeets df. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S185-8. Int J Radiat Biol. 1994. PMID: 7836846 Review.
Immunodeficiency in a child with partial trisomy 6p.
Bart IY, Weemaes CM, Schuitema-Dijkstra AR, Smeets D, de Vries E. Bart IY, et al. Acta Paediatr. 2011 Aug;100(8):e92-4. doi: 10.1111/j.1651-2227.2011.02202.x. Epub 2011 Mar 2. Acta Paediatr. 2011. PMID: 21299612
ICF syndrome: a new case and review of the literature.
Smeets DF, Moog U, Weemaes CM, Vaes-Peeters G, Merkx GF, Niehof JP, Hamers G. Smeets DF, et al. Hum Genet. 1994 Sep;94(3):240-6. doi: 10.1007/BF00208277. Hum Genet. 1994. PMID: 8076938 Review.
149 results