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Understanding Behavior in Phelan-McDermid Syndrome.
Landlust AM, Visser L, Flapper BCT, Ruiter SAJ, Zwanenburg RJ, van Ravenswaaij-Arts CMA, van Balkom IDC. Landlust AM, et al. Among authors: van ravenswaaij arts cma. Front Psychiatry. 2022 May 26;13:836807. doi: 10.3389/fpsyt.2022.836807. eCollection 2022. Front Psychiatry. 2022. PMID: 35693963 Free PMC article.
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium; Hennekam RC. Schön M, et al. Among authors: van ravenswaaij arts cma. Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31. Eur J Med Genet. 2023. PMID: 37003575 Free article.
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium; Evans DG, van Ravenswaaij-Arts CMA, Kant SG. Koza SA, et al. Among authors: van ravenswaaij arts cma. Eur J Med Genet. 2023 Jul;66(7):104773. doi: 10.1016/j.ejmg.2023.104773. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120077 Free article. Review.
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
Landlust AM, Koza SA, Carbin M, Walinga M, Robert S, Cooke J, Vyshka K; European Phelan-McDermid syndrome consortium; van Balkom IDC, van Ravenswaaij-Arts C. Landlust AM, et al. Eur J Med Genet. 2023 Jul;66(7):104771. doi: 10.1016/j.ejmg.2023.104771. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120079 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. 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
138 results