Chiara Leoni, MD, PhD
Chiara Leoni, MD, PhD
Center for Rare Disease, Polo Salute della Donna e del Bambino, Fondazione Policlinico Universitario
Verified email at policlinicogemelli.it
Title
Cited by
Cited by
Year
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
782015
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
772009
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
762015
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
512009
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
472014
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
342013
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
312010
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 (3), 423-429, 2011
242011
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
232008
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
222016
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
192016
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy
G Della Marca, E Scarano, C Leoni, S Dittoni, A Losurdo, E Testani, ...
Sleep and Breathing 16 (1), 5-10, 2012
192012
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
132016
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review
E Testani, E Scarano, C Leoni, S Dittoni, A Losurdo, S Colicchio, V Gnoni, ...
American Journal of Medical Genetics Part A 164 (8), 2029-2035, 2014
122014
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
122014
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
112018
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma
C Leoni, G Gullo, N Resta, A Fagotti, R Onesimo, B Schwartz, J Kazakin, ...
American Journal of Medical Genetics Part A 179 (7), 1319-1324, 2019
92019
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy
F Novegno, D Battaglia, D Chieffo, P Frassanito, C Leoni, G Tamburrini, ...
Epilepsy research 87 (1), 88-94, 2009
92009
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome
B Johnson, D Goldberg‐Strassler, K Gripp, M Thacker, C Leoni, ...
American Journal of Medical Genetics Part A 167 (1), 40-44, 2015
82015
Increased levels of glial cell-derived neurotrophic factor in CSF of infants with SMA
A Chiaretti, C Leoni, G Barone, O Genovese, C Brahe, P Mariotti, G Conti
Pediatric neurology 41 (3), 195-199, 2009
82009
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