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Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE. Kline AD, et al. Among authors: ishman sl. Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899772 Free article.
Characterization of sleep disturbance in Cornelia de Lange Syndrome.
Stavinoha RC, Kline AD, Levy HP, Kimball A, Mettel TL, Ishman SL. Stavinoha RC, et al. Among authors: ishman sl. Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):215-8. doi: 10.1016/j.ijporl.2010.11.003. Epub 2010 Dec 13. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21146878
Insomnia in Cornelia de Lange syndrome.
Rajan R, Benke JR, Kline AD, Levy HP, Kimball A, Mettel TL, Boss EF, Ishman SL. Rajan R, et al. Among authors: ishman sl. Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):972-5. doi: 10.1016/j.ijporl.2012.03.008. Epub 2012 Apr 13. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22503448
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS, Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D. Kline AD, et al. Among authors: ishman sl. Am J Med Genet A. 2014 Jun;164A(6):1384-93. doi: 10.1002/ajmg.a.36417. Epub 2014 Feb 6. Am J Med Genet A. 2014. PMID: 24504889 Free article.
Improvement in hearing loss over time in Cornelia de Lange syndrome.
Janek KC, Smith DF, Kline AD, Benke JR, Chen ML, Kimball A, Ishman SL. Janek KC, et al. Among authors: ishman sl. Int J Pediatr Otorhinolaryngol. 2016 Aug;87:203-7. doi: 10.1016/j.ijporl.2016.06.032. Epub 2016 Jun 13. Int J Pediatr Otorhinolaryngol. 2016. PMID: 27368472
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: ishman sl. 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.
219 results