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PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Brilstra EH, Dijkhuizen T, Vos YJ, van der Kevie-Kersemaekers AF, Knijnenburg J, de Leeuw N, van Minkelen R, Ruivenkamp CAL, Stegmann APA, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2019 Apr;62(4):265-269. doi: 10.1016/j.ejmg.2018.08.002. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125676 Free article.
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. Doornbos M, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27. Eur J Med Genet. 2009. PMID: 19328872
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout AT, et al. Among authors: dijkhuizen t. Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401716 Free PMC article.
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM. Verheij JB, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2009 Sep-Oct;52(5):353-7. doi: 10.1016/j.ejmg.2009.05.006. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464398
77 results