Leoni C - Search Results

1

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Motta M, Solman M, Bonnard AA, Kuechler A, Pantaleoni F, Priolo M, Chandramouli B, Coppola S, Pizzi S, Zara E, Ferilli M, Kayserili H, Onesimo R, Leoni C, Brinkmann J, Vial Y, Kamphausen SB, Thomas-Teinturier C, Guimier A, Cordeddu V, Mazzanti L, Zampino G, Chillemi G, Zenker M, Cavé H, den Hertog J, Tartaglia M. Motta M, et al. Among authors: leoni c. Hum Mol Genet. 2022 Aug 23;31(16):2766-2778. doi: 10.1093/hmg/ddac071. Hum Mol Genet. 2022. PMID: 35348676 Free PMC article.

2

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

Cesarini L, Alfieri P, Pantaleoni F, Vasta I, Cerutti M, Petrangeli V, Mariotti P, Leoni C, Ricci D, Vicari S, Selicorni A, Tartaglia M, Mercuri E, Zampino G. Cesarini L, et al. Among authors: leoni c. Am J Med Genet A. 2009 Feb;149A(2):140-6. doi: 10.1002/ajmg.a.32488. Am J Med Genet A. 2009. PMID: 19133693

3

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Kratz CP, et al. Among authors: leoni c. Am J Med Genet A. 2009 May;149A(5):1036-40. doi: 10.1002/ajmg.a.32786. Am J Med Genet A. 2009. PMID: 19396835

4

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

5

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

Leoni C, Cesarini L, Dittoni S, Battaglia D, Novelli A, Bernardini L, Losurdo A, Vollono C, Testani E, Della Marca G, Zampino G. Leoni C, et al. Am J Med Genet A. 2010 Mar;152A(3):708-12. doi: 10.1002/ajmg.a.32700. Am J Med Genet A. 2010. PMID: 20186811

6

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.

7

Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.

Alfieri P, Cesarini L, Mallardi M, Piccini G, Caciolo C, Leoni C, Mirante N, Pantaleoni F, Digilio MC, Gambardella ML, Tartaglia M, Vicari S, Mercuri E, Zampino G. Alfieri P, et al. Among authors: leoni c. Behav Genet. 2011 May;41(3):423-9. doi: 10.1007/s10519-011-9446-5. Epub 2011 Jan 28. Behav Genet. 2011. PMID: 21274610

8

Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).

Della Marca G, Leoni C, Dittoni S, Battaglia D, Losurdo A, Testani E, Colicchio S, Gnoni V, Gambardella ML, Mariotti P, Alfieri P, Tartaglia M, Zampino G. Della Marca G, et al. Among authors: leoni c. J Clin Neurophysiol. 2011 Jun;28(3):314-8. doi: 10.1097/WNP.0b013e31821c3ad5. J Clin Neurophysiol. 2011. PMID: 21633259

9

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

10

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G. Flex E, et al. Among authors: leoni c. J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17. J Med Genet. 2013. PMID: 23687348 Free PMC article.

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