| 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 | 153 | 2015 |
| 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 | 123 | 2015 |
| 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 | 109 | 2009 |
| 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 | 74 | 2014 |
| 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 | 66 | 2009 |
| 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 | 54 | 2013 |
| 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 | 44* | |
| 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 | 42 | 2016 |
| 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 | 37 | 2016 |
| 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 | 35 | 2010 |
| 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 | 35 | 1997 |
| 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 | 34 | 2018 |
| 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 | 31 | 2011 |
| 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 | 30 | 2021 |
| 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 | 29 | 2022 |
| 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 | 29 | 2014 |
| 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 | 27 | 2016 |
| 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 | 27 | 2008 |
| 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 | 26 | 2022 |
| Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status C Leoni, DM Romeo, M Pelliccioni, M Di Giā, R Onesimo, V Giorgio, ... Orphanet Journal of Rare Diseases 16, 1-10, 2021 | 23 | 2021 |
paolo MariottineurologiaVerified email at mclink.it
