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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: bisgaard am. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome.
Stahlhut M, Hill K, Bisgaard AM, Jensen AK, Andersen M, Leonard H, Downs J. Stahlhut M, et al. Among authors: bisgaard am. J Child Neurol. 2017 Oct;32(12):1009-1013. doi: 10.1177/0883073817728861. J Child Neurol. 2017. PMID: 28911278
[Genetic testing in autism spectrum disorder].
Jensen JM, Nielsen US, Bayat A, Rasmussen MB, Møller RS, Bisgaard AM, Hammer TB. Jensen JM, et al. Among authors: bisgaard am. Ugeskr Laeger. 2022 Aug 22;184(34):V04220253. Ugeskr Laeger. 2022. PMID: 36065862 Free article. Review. Danish.
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Śmigiel R, Bisgaard AM, Massa V, Gervasini C, Moretti A, Cattoni A, Biondi A, Selicorni A. Gibellato E, et al. Among authors: bisgaard am. Am J Med Genet A. 2024 Feb 29:e63577. doi: 10.1002/ajmg.a.63577. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421079
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T. Kirchhoff M, et al. Among authors: bisgaard am. Eur J Med Genet. 2007 Jan-Feb;50(1):33-42. doi: 10.1016/j.ejmg.2006.10.002. Epub 2006 Oct 10. Eur J Med Genet. 2007. PMID: 17090394
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. Kirchhoff M, et al. Among authors: bisgaard am. Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814. Am J Med Genet A. 2009. PMID: 19363806
47 results