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Page 1
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H. Khandelwal KD, et al. Among authors: ockeloen cw. Am J Med Genet A. 2017 Jul;173(7):1813-1820. doi: 10.1002/ajmg.a.38274. Epub 2017 May 17. Am J Med Genet A. 2017. PMID: 28513979
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Ockeloen CW, et al. Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4. Neuromuscul Disord. 2012. PMID: 22560515 Free PMC article.
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE. Feberwee HE, et al. Among authors: ockeloen cw. Clin Genet. 2014 Feb;85(2):194-7. doi: 10.1111/cge.12125. Epub 2013 Apr 5. Clin Genet. 2014. PMID: 23557072 No abstract available.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: ockeloen cw. J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. J Med Genet. 2013. PMID: 24123876
Variability in dentofacial phenotypes in four families with WNT10A mutations.
Vink CP, Ockeloen CW, ten Kate S, Koolen DA, Ploos van Amstel JK, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CE. Vink CP, et al. Among authors: ockeloen cw. Eur J Hum Genet. 2014 Sep;22(9):1063-70. doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398796 Free PMC article.
[Tooth eruption disturbances and syndromes].
Oosterkamp BC, Ockeloen CW, Carels CE, Kuijpers-Jagtman AM. Oosterkamp BC, et al. Among authors: ockeloen cw. Ned Tijdschr Tandheelkd. 2014 Apr;121(4):233-8. Ned Tijdschr Tandheelkd. 2014. PMID: 24881265 Review. Dutch.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.
Reynaert N, Ockeloen CW, Sävendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CE, Grigelioniene G, Nordgren A, Francois I, de Zegher F, Casteels K. Reynaert N, et al. Among authors: ockeloen cw. Horm Res Paediatr. 2015;83(5):361-4. doi: 10.1159/000380908. Epub 2015 Apr 1. Horm Res Paediatr. 2015. PMID: 25833229
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ. Bramswig NC, et al. Among authors: ockeloen cw. Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12. Hum Genet. 2015. PMID: 26264464
68 results