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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: hordijk r. 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
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. Bijlsma EK, et al. Among authors: hordijk r. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21. Eur J Med Genet. 2009. PMID: 19306953
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Among authors: hordijk r. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Feenstra I, et al. Among authors: hordijk r. Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712853 Free PMC article.
27 results