Leoni, Chiara
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment
2020 Onesimo, R.; De Rose, C.; Cipolla, C.; Casa, S. D.; Leoni, C.; Salerni, A.; Ricci, D.; Zampino, G.
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)
2020 Rigante, D; Stellacci, E; Leoni, C; Onesimo, R; Radio, Fc; Pizzi, S; Giorgio, V; Tornesello, A; Tartaglia, M; Zampino, G
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
2022 Ferrantini, Gloria; Coratti, Giorgia; Onesimo, Roberta; Lucibello, Simona; Bompard, S.; Turrini, Ida; Cicala, Gianpaolo; Caprarelli, Michela; Pera, Maria Carmela; Bravetti, C.; Berti, B.; Giorgio, Valentina; Bruno, C.; Brolatti, N.; Panicucci, C.; D'Amico, Adele; Longo, A.; Leoni, Chiara; Sansone, V. A.; Albamonte, E.; Messina, S.; Sframeli, M.; Bertini, E.; Pane, Marika; Mercuri, Eugenio Maria
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
2022 Ferrantini, Gloria; Coratti, Giorgia; Onesimo, Roberta; Lucibello, Simona; Bompard, Sarah; Turrini, Ida; Cicala, Graziamaria; Caprarelli, Michela; Pera, Maria Carmela; Bravetti, Chiara; Berti, Beatrice; Giorgio, Valentina; Bruno, Claudio; Brolatti, Noemi; Panicucci, Chiara; D'Amico, Adele; Longo, Antonella; Leoni, Chiara; Sansone, Valeria A; Albamonte, Emilio; Messina, Sonia; Sframeli, Maria; Bertini, Enrico; Pane, Marika; Mercuri, Eugenio
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study
2022 Leoni, C; Bisanti, C; Viscogliosi, G; Onesimo, R; Massese, M; Giorgio, V; Corbo, F; Acampora, A; Cipolla, C; Flex, E; Dell’Atti, C; Rigante, D; Tartaglia, M; Zampino, G
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype
2021 Leoni, C; Tedesco, M; Radio, Fc; Chillemi, G; Leone, A; Bruselles, A; Ciolfi, A; Stellacci, E; Pantaleoni, F; Butera, G; Rigante, D; Onesimo, R; Tartaglia, M; Zampino, G
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
2020 Kortum, F.; Niceta, M.; Magliozzi, M.; Dumic Kubat, K.; Robertson, S. P.; Moresco, A.; Dentici, M. L.; Baban, A.; Leoni, C.; Onesimo, R.; Obregon, M. G.; Digilio, M. C.; Zampino, G.; Novelli, A.; Tartaglia, M.; Kutsche, K.
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome
2022 Leoni, C; Viscogliosi, G; Onesimo, R; Bisanti, C; Massese, M; Giorgio, V; Corbo, F; Tedesco, M; Acampora, A; Cipolla, C; Flex, E; Gervasoni, J; Rigante, D; Tartaglia, M; Zampino, G
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A
2016 Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica Immacolata; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS
2009 Kratz, Cp; Zampino, Giuseppe; Kriek, M; Kant, Sg; Leoni, Chiara; Pantaleoni, F; Oudesluys Murphy, Am; Di Rocco, Concezio; Kloska, Sp; Tartaglia, Marco; Zenker, M.
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population
2023 Sforza, Elisabetta; Onesimo, Roberta; Triumbari, Elizabeth Katherine; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Proli, Francesco; Kuczynska, Eliza Maria; Ramsay, Maria; Zampino, Giuseppe
Decreased bone mineral density in Costello syndrome
2014 Leoni, Chiara; De Sanctis, Renata; Persichilli, Silvia; Zampino, Giuseppe; La Torraca, Ilaria
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus
2022 Deluca, E. V.; Cornacchia, L.; Guerriero, C.; Di Stefani, A.; Leoni, C.; Federico, F.; Peris, K.
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation
2016 Dileone, Michele; Ranieri, Federico; Florio, Lucia; Capone, Fioravante; Musumeci, Gabriella; Leoni, Chiara; Mordillo Mateos, Laura; Tartaglia, Marco; Zampino, Giuseppe; Di Lazzaro, Vincenzo
Drooling outcome measures in paediatric disability: a systematic review
2022 Sforza, E.; Onesimo, R.; Leoni, C.; Giorgio, V.; Proli, F.; Notaro, F.; Kuczynska, E. M.; Cerchiari, A.; Selicorni, A.; Rigante, D.; Zampino, G.
Dystonia in Costello syndrome
2012 Dileone, M; Zampino, Giuseppe; Profice, Paolo; Pilato, Fabio; Leoni, Chiara; Ranieri, Federico; Capone, Fioravante; Tartaglia, Marco; Brown, P; Di Lazzaro, Vincenzo
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?
2020 Onesimo, R.; Proli, F.; Leoni, C.; Contaldo, I.; Salerni, A.; Conti, G.; Tartaglia, M.; Zampino, G.
Enhanced human brain associative plasticity in Costello syndrome
2010 Dileone, M; Profice, Paolo; Pilato, Fabio; Alfieri, P; Cesarini, L; Mercuri, Eugenio Maria; Leoni, Chiara; Tartaglia, Marco; Di Iorio, Riccardo; Zampino, Giuseppe; Di Lazzaro, Vincenzo
Enlarged spinal nerve roots in RASopathies: report of two cases
2021 Leoni, C; Tedesco, M; Talloa, D; Verdolotti, T; Onesimo, R; Colosimo, C; Flex, E; De Luca, A; Tartaglia, M; Rigante, D; Zampino, G
Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations
2021 Battaglia, D. I.; Gambardella, M. L.; Veltri, S.; Contaldo, I.; Chillemi, G.; Veredice, C.; Quintiliani, M.; Leoni, C.; Onesimo, R.; Verdolotti, T.; Radio, F. C.; Martinelli, D.; Trivisano, M.; Specchio, N.; Dravet, C.; Tartaglia, M.; Zampino, G.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2020 | Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment | Onesimo, R.; De Rose, C.; Cipolla, C.; Casa, S. D.; Leoni, C.; Salerni, A.; Ricci, D.; Zampino, G. | |
1-gen-2020 | Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) | Rigante, D; Stellacci, E; Leoni, C; Onesimo, R; Radio, Fc; Pizzi, S; Giorgio, V; Tornesello, A; Tartaglia, M; Zampino, G | |
1-gen-2022 | Body mass index in type 2 spinal muscular atrophy: a longitudinal study | Ferrantini, Gloria; Coratti, Giorgia; Onesimo, Roberta; Lucibello, Simona; Bompard, S.; Turrini, Ida; Cicala, Gianpaolo; Caprarelli, Michela; Pera, Maria Carmela; Bravetti, C.; Berti, B.; Giorgio, Valentina; Bruno, C.; Brolatti, N.; Panicucci, C.; D'Amico, Adele; Longo, A.; Leoni, Chiara; Sansone, V. A.; Albamonte, E.; Messina, S.; Sframeli, M.; Bertini, E.; Pane, Marika; Mercuri, Eugenio Maria | |
1-gen-2022 | Body mass index in type 2 spinal muscular atrophy: a longitudinal study | Ferrantini, Gloria; Coratti, Giorgia; Onesimo, Roberta; Lucibello, Simona; Bompard, Sarah; Turrini, Ida; Cicala, Graziamaria; Caprarelli, Michela; Pera, Maria Carmela; Bravetti, Chiara; Berti, Beatrice; Giorgio, Valentina; Bruno, Claudio; Brolatti, Noemi; Panicucci, Chiara; D'Amico, Adele; Longo, Antonella; Leoni, Chiara; Sansone, Valeria A; Albamonte, Emilio; Messina, Sonia; Sframeli, Maria; Bertini, Enrico; Pane, Marika; Mercuri, Eugenio | |
1-gen-2022 | Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study | Leoni, C; Bisanti, C; Viscogliosi, G; Onesimo, R; Massese, M; Giorgio, V; Corbo, F; Acampora, A; Cipolla, C; Flex, E; Dell’Atti, C; Rigante, D; Tartaglia, M; Zampino, G | |
1-gen-2021 | Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype | Leoni, C; Tedesco, M; Radio, Fc; Chillemi, G; Leone, A; Bruselles, A; Ciolfi, A; Stellacci, E; Pantaleoni, F; Butera, G; Rigante, D; Onesimo, R; Tartaglia, M; Zampino, G | |
1-gen-2020 | Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants | Kortum, F.; Niceta, M.; Magliozzi, M.; Dumic Kubat, K.; Robertson, S. P.; Moresco, A.; Dentici, M. L.; Baban, A.; Leoni, C.; Onesimo, R.; Obregon, M. G.; Digilio, M. C.; Zampino, G.; Novelli, A.; Tartaglia, M.; Kutsche, K. | |
1-gen-2022 | Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome | Leoni, C; Viscogliosi, G; Onesimo, R; Bisanti, C; Massese, M; Giorgio, V; Corbo, F; Tedesco, M; Acampora, A; Cipolla, C; Flex, E; Gervasoni, J; Rigante, D; Tartaglia, M; Zampino, G | |
1-gen-2016 | Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A | Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica Immacolata; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco | |
1-gen-2009 | CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS | Kratz, Cp; Zampino, Giuseppe; Kriek, M; Kant, Sg; Leoni, Chiara; Pantaleoni, F; Oudesluys Murphy, Am; Di Rocco, Concezio; Kloska, Sp; Tartaglia, Marco; Zenker, M. | |
1-gen-2023 | Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population | Sforza, Elisabetta; Onesimo, Roberta; Triumbari, Elizabeth Katherine; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Proli, Francesco; Kuczynska, Eliza Maria; Ramsay, Maria; Zampino, Giuseppe | |
1-gen-2014 | Decreased bone mineral density in Costello syndrome | Leoni, Chiara; De Sanctis, Renata; Persichilli, Silvia; Zampino, Giuseppe; La Torraca, Ilaria | |
1-gen-2022 | Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus | Deluca, E. V.; Cornacchia, L.; Guerriero, C.; Di Stefani, A.; Leoni, C.; Federico, F.; Peris, K. | |
1-gen-2016 | Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation | Dileone, Michele; Ranieri, Federico; Florio, Lucia; Capone, Fioravante; Musumeci, Gabriella; Leoni, Chiara; Mordillo Mateos, Laura; Tartaglia, Marco; Zampino, Giuseppe; Di Lazzaro, Vincenzo | |
1-gen-2022 | Drooling outcome measures in paediatric disability: a systematic review | Sforza, E.; Onesimo, R.; Leoni, C.; Giorgio, V.; Proli, F.; Notaro, F.; Kuczynska, E. M.; Cerchiari, A.; Selicorni, A.; Rigante, D.; Zampino, G. | |
1-gen-2012 | Dystonia in Costello syndrome | Dileone, M; Zampino, Giuseppe; Profice, Paolo; Pilato, Fabio; Leoni, Chiara; Ranieri, Federico; Capone, Fioravante; Tartaglia, Marco; Brown, P; Di Lazzaro, Vincenzo | |
1-gen-2020 | Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? | Onesimo, R.; Proli, F.; Leoni, C.; Contaldo, I.; Salerni, A.; Conti, G.; Tartaglia, M.; Zampino, G. | |
1-gen-2010 | Enhanced human brain associative plasticity in Costello syndrome | Dileone, M; Profice, Paolo; Pilato, Fabio; Alfieri, P; Cesarini, L; Mercuri, Eugenio Maria; Leoni, Chiara; Tartaglia, Marco; Di Iorio, Riccardo; Zampino, Giuseppe; Di Lazzaro, Vincenzo | |
1-gen-2021 | Enlarged spinal nerve roots in RASopathies: report of two cases | Leoni, C; Tedesco, M; Talloa, D; Verdolotti, T; Onesimo, R; Colosimo, C; Flex, E; De Luca, A; Tartaglia, M; Rigante, D; Zampino, G | |
1-gen-2021 | Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations | Battaglia, D. I.; Gambardella, M. L.; Veltri, S.; Contaldo, I.; Chillemi, G.; Veredice, C.; Quintiliani, M.; Leoni, C.; Onesimo, R.; Verdolotti, T.; Radio, F. C.; Martinelli, D.; Trivisano, M.; Specchio, N.; Dravet, C.; Tartaglia, M.; Zampino, G. |