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Page 1
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: leoni c. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Visual function in Noonan and LEOPARD syndrome.
Alfieri P, Cesarini L, Zampino G, Pantaleoni F, Selicorni A, Salerni A, Vasta I, Cerutti M, Dickmann A, Colitto F, Staccioli S, Leoni C, Ricci D, Brogna C, Tartaglia M, Mercuri E. Alfieri P, et al. Among authors: leoni c. Neuropediatrics. 2008 Dec;39(6):335-40. doi: 10.1055/s-0029-1216354. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19568997
Wolf-Hirschhorn syndrome with improvement of renal function.
Ferrara P, Del Bufalo F, Nicoletti A, Romano V, Gatto A, Leoni C, Zampino G. Ferrara P, et al. Among authors: leoni c. Am J Med Genet A. 2010 May;152A(5):1283-4. doi: 10.1002/ajmg.a.33357. Am J Med Genet A. 2010. PMID: 20425837
Enhanced human brain associative plasticity in Costello syndrome.
Dileone M, Profice P, Pilato F, Alfieri P, Cesarini L, Mercuri E, Leoni C, Tartaglia M, Di Iorio R, Zampino G, Di Lazzaro V. Dileone M, et al. Among authors: leoni c. J Physiol. 2010 Sep 15;588(Pt 18):3445-56. doi: 10.1113/jphysiol.2010.191072. Epub 2010 Jul 26. J Physiol. 2010. PMID: 20660566 Free PMC article.
Decreased bone mineral density in Costello syndrome.
Leoni C, Stevenson DA, Martini L, De Sanctis R, Mascolo G, Pantaleoni F, De Santis S, La Torraca I, Persichilli S, Caradonna P, Tartaglia M, Zampino G. Leoni C, et al. Mol Genet Metab. 2014 Jan;111(1):41-5. doi: 10.1016/j.ymgme.2013.08.007. Epub 2013 Aug 16. Mol Genet Metab. 2014. PMID: 24246682
212 results