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Chiara Leoni, MD, PhD
Chiara Leoni, MD, PhD
Center for Rare Disease, Polo Salute della Donna e del Bambino, Fondazione Policlinico Universitario
Email verificata su policlinicogemelli.it
Titolo
Citata da
Citata da
Anno
p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ...
European Journal of Human Genetics 23 (8), 1068-1071, 2015
1542015
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ...
The American Journal of Human Genetics 96 (5), 816-825, 2015
1182015
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade
L Cesarini, P Alfieri, F Pantaleoni, I Vasta, M Cerutti, V Petrangeli, ...
American Journal of Medical Genetics Part A 149 (2), 140-146, 2009
1072009
Behavioral profile in RASopathies
P Alfieri, G Piccini, C Caciolo, F Perrino, ML Gambardella, M Mallardi, ...
American Journal of Medical Genetics Part A 164 (4), 934-942, 2014
742014
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations
CP Kratz, G Zampino, M Kriek, SG Kant, C Leoni, F Pantaleoni, ...
American Journal of Medical Genetics Part A 149 (5), 1036-1040, 2009
662009
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
E Flex, A Ciolfi, V Caputo, V Fodale, C Leoni, D Melis, MF Bedeschi, ...
Journal of medical genetics 50 (8), 493-499, 2013
522013
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma
GZ Leoni C, Gullo G, Resta N, Fagotti A, Onesimo R, Schwartz B, Kazakin J ...
Am J Med Gen A, 0
42*
Understanding growth failure in Costello syndrome: increased resting energy expenditure
C Leoni, R Onesimo, V Giorgio, A Diamanti, D Giorgio, L Martini, ...
The Journal of pediatrics 170, 322-324, 2016
412016
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A
E Stellacci, R Onesimo, A Bruselles, S Pizzi, D Battaglia, C Leoni, ...
American Journal of Medical Genetics Part A 170 (9), 2389-2393, 2016
372016
Transudative vs exudative pleural effusions: differentiation using Gd-DTPA-enhanced MRI
C Frola, S Cantoni, I Turtulici, C Leoni, F Loria, M Gaeta, LE Derchi
European radiology 7, 860-864, 1997
351997
Enhanced human brain associative plasticity in Costello syndrome
M Dileone, P Profice, F Pilato, P Alfieri, L Cesarini, E Mercuri, C Leoni, ...
The Journal of physiology 588 (18), 3445-3456, 2010
342010
Psychopathological features in Noonan syndrome
F Perrino, S Licchelli, G Serra, G Piccini, C Caciolo, P Pasqualetti, F Cirillo, ...
european journal of paediatric neurology 22 (1), 170-177, 2018
322018
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade
P Alfieri, L Cesarini, M Mallardi, G Piccini, C Caciolo, C Leoni, N Mirante, ...
Behavior genetics 41, 423-429, 2011
312011
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
B Sadler, J Wilborn, L Antunes, T Kuensting, AT Hale, SR Gannon, ...
The American Journal of Human Genetics 108 (1), 100-114, 2021
292021
Decreased bone mineral density in Costello syndrome
C Leoni, DA Stevenson, L Martini, R De Sanctis, G Mascolo, F Pantaleoni, ...
Molecular genetics and metabolism 111 (1), 41-45, 2014
292014
Herpes zoster and simplex reactivation following COVID-19 vaccination: new insights from a vaccine adverse event reporting system (VAERS) database analysis
M Gringeri, V Battini, G Cammarata, G Mosini, G Guarnieri, C Leoni, ...
Expert Review of Vaccines 21 (5), 675-684, 2022
272022
The fourth international symposium on genetic disorders of the Ras/MAPK pathway
DA Stevenson, L Schill, L Schoyer, BS Andresen, A Bakker, ...
American Journal of Medical Genetics Part A 170 (8), 1959-1966, 2016
272016
Visual function in Noonan and LEOPARD syndrome
P Alfieri, L Cesarini, G Zampino, F Pantaleoni, A Selicorni, A Salerni, ...
Neuropediatrics 39 (06), 335-340, 2008
272008
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review
C Leoni, R Blandino, AB Delogu, G De Rosa, R Onesimo, V Verusio, ...
American Journal of Medical Genetics Part A 188 (2), 431-445, 2022
232022
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.
ZG Leoni C, Triumbari EKT, Vollono C, Onesimo R, Podagrosi M, Giorgio V ...
Am J Med Gen A, 2019
222019
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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