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Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.
D'Hulst C, Heulens I, Van der Aa N, Goffin K, Koole M, Porke K, Van De Velde M, Rooms L, Van Paesschen W, Van Esch H, Van Laere K, Kooy RF. D'Hulst C, et al. Among authors: van der aa n, van paesschen w, van de velde m, van esch h, van laere k. PLoS One. 2015 Jul 29;10(7):e0131486. doi: 10.1371/journal.pone.0131486. eCollection 2015. PLoS One. 2015. PMID: 26222316 Free PMC article. Clinical Trial.
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF. Van der Aa N, et al. Among authors: van bon bw, van den ende j. Eur J Med Genet. 2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006. Epub 2009 Feb 26. Eur J Med Genet. 2009. PMID: 19249392
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. Helsmoortel C, et al. Among authors: van der aa n, van den ende j. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Nat Genet. 2014. PMID: 24531329 Free PMC article.
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: van der aa n, van der werf im. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614
154 results