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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
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Among authors: bisgaard am. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Among authors: bisgaard am. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC. Krab LC, et al. Among authors: bisgaard am. Hum Genet. 2020 May;139(5):575-592. doi: 10.1007/s00439-020-02138-2. Epub 2020 Mar 19. Hum Genet. 2020. PMID: 32193685 Free PMC article.
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.
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: bisgaard am. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
47 results