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Page 1
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: leoni c. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
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
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.
Dystonia in Costello syndrome.
Dileone M, Zampino G, Profice P, Pilato F, Leoni C, Ranieri F, Capone F, Tartaglia M, Brown P, Di Lazzaro V. Dileone M, et al. Among authors: leoni c. Parkinsonism Relat Disord. 2012 Jul;18(6):798-800. doi: 10.1016/j.parkreldis.2012.03.015. Epub 2012 Apr 15. Parkinsonism Relat Disord. 2012. PMID: 22510203
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
223 results