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Page 1
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: huisman sa. 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.
Building treasures for rare disorders.
Baas M, Huisman S, van Heukelingen J, Koekkoek G, Laan HW, Hennekam RC. Baas M, et al. Eur J Med Genet. 2015 Jan;58(1):11-3. doi: 10.1016/j.ejmg.2014.10.006. Epub 2014 Nov 4. Eur J Med Genet. 2015. PMID: 25449139
Behaviour in Cornelia de Lange syndrome: a systematic review.
Mulder PA, Huisman SA, Hennekam RC, Oliver C, van Balkom ID, Piening S. Mulder PA, et al. Among authors: huisman sa. Dev Med Child Neurol. 2017 Apr;59(4):361-366. doi: 10.1111/dmcn.13361. Epub 2016 Dec 18. Dev Med Child Neurol. 2017. PMID: 27988966 Free article. Review.
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE. Kline AD, et al. Among authors: huisman sa. Am J Med Genet A. 2017 May;173(5):1172-1185. doi: 10.1002/ajmg.a.38161. Epub 2017 Feb 12. Am J Med Genet A. 2017. PMID: 28190301 Free PMC article.
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. 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
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
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. 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.
Development, behaviour and autism in individuals with SMC1A variants.
Mulder PA, Huisman S, Landlust AM, Moss J; SMC1A Consortium; Piening S, Hennekam RC, van Balkom IDC. Mulder PA, et al. J Child Psychol Psychiatry. 2019 Mar;60(3):305-313. doi: 10.1111/jcpp.12979. Epub 2018 Oct 8. J Child Psychol Psychiatry. 2019. PMID: 30295920
41 results