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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.
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.
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Engwerda A, Frentz B, Rraku E, de Souza NFS, Swertz MA, Plantinga M, Kerstjens-Frederikse WS, Ranchor AV, van Ravenswaaij-Arts CMA. Engwerda A, et al. Among authors: van ravenswaaij arts cma. Orphanet J Rare Dis. 2023 Mar 19;18(1):60. doi: 10.1186/s13023-023-02657-x. Orphanet J Rare Dis. 2023. PMID: 36935495 Free PMC article.
The role of TBX18 in congenital heart defects in humans not confirmed.
Engwerda A, Abbott KM, Hitzert MM, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS. Engwerda A, et al. Among authors: van ravenswaaij arts cma. Eur J Hum Genet. 2023 Feb;31(2):138-141. doi: 10.1038/s41431-022-01242-3. Epub 2022 Nov 22. Eur J Hum Genet. 2023. PMID: 36418409 Free PMC article. No abstract available.
CHD7 Disorder.
van Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. van Ravenswaaij-Arts CM, et al. 2006 Oct 2 [updated 2022 Sep 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Oct 2 [updated 2022 Sep 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301296 Free Books & Documents. Review.
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.
133 results