Leoni, Chiara
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort
2025 Di Majo, Be; Leoni, Chiara; Cartisano, E; Fossati, C; Viscogliosi, Germana; Trevisan, Valentina; Bruno, Lp; Conti, F; Moratti, M; Monaco, E; Rigante, Donato; Rivalta, B; Cancrini, C; Szczawińska-Popłonyk, A; Jamsheer, A; Obara-Moszyńska, M; Zakharova, V; Shcherbina, A; Rodina, J; Tüysüz, B; Jamuar, Ss; Lim, Jy; Goh, J; Cereda, A; Agovino, T; Contaldo, Ilaria; Gambardella, Maria Luigia; Balduzzi, Ac; Cherubino, Alessia; Marrocco, Giovanni Antonio; Bellesi, Silvia; Carusi, V; Rumi, Gabriele; Biondi, A; Zampino, Giuseppe; Saettini, F
Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1.
2025 Calà, F; Sforza, Elisabetta; D’Alatri, L; Frassineti, L; Manfredi, C; Onesimo, Roberta; Rigante, Donato; Pane, Marika; Servidei, Serenella; Primiano, Guido Alessandro; Crisponi, G; Crisponi, L; Leoni, Chiara; Lanatà, A; Zampino, Giuseppe
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
2024 Trevisan, Valentina; De Corso, Eugenio; Viscogliosi, Germana; Onesimo, Roberta; Cina, Alessandro; Panfili, Marco; Perri, L; Agazzi, Cristiana; Giorgio, Valentina; Rigante, Donato; Vento, Giovanni; Papacci, Patrizia; Paradiso, Filomena Valentina; Silvaroli, Sara; Nanni, Lorenzo; Resta, N; Castori, M; Galli, Jacopo; Paludetti, Gaetano; Zampino, Giuseppe; Leoni, Chiara
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data
2024 Cutrona, Costanza; De Sanctis, Roberto; Coratti, Giorgia; Capasso, Anna; Ricci, Martina; Stanca, Giulia; Carnicella, Sara; Utlulig, Meric; Bersani, Giulia; Lazzareschi, Ilaria; Leoni, Chiara; Buonsenso, Danilo; Luciano, Rita Paola Maria; Vento, Giovanni; Finkel, Richard S; Pane, Marika; Mercuri, Eugenio Maria
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome
2024 Proli, Francesco; Sforza, Elisabetta; Faragalli, A; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Kuczynska, E; Veredice, Chiara; Limongelli, Domenico; Zappalà, A; Rosati, J; Pennuto, M; Trevisan, Valentina; Zampino, Giuseppe; Onesimo, Roberta
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome
2024 Onesimo, Roberta; Sforza, Elisabetta; Palermo, F; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Trevisan, Valentina; Agazzi, Cristiana; Limongelli, Domenico; Proli, Francesco; Kuczynska, Em; Crisponi, L; Crisponi, G; Zampino, Giuseppe
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies
2024 Romeo, Domenico Marco; Pironi, Virginia; Velli, Chiara; Sforza, Elisabetta; Rigante, Donato; Giorgio, Valentina; Leoni, Chiara; De Rose, Cristina; Kuczynska, Em; Limongelli, L; Ruiz, Roberta Giusy; Agazzi, Cristiana; Mercuri, Eugenio Maria; Zampino, Giuseppe; Onesimo, Roberta
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma
2024 Trevisan, Valentina; Viscogliosi, Germana; Savino, Gustavo; Salerni, Annabella; Perri, L; Russo, Rosellina; Benenati, M; Calandrelli, Rosalinda; Onesimo, Roberta; Giorgio, Valentina; Rigante, Donato; Genuardi, Maurizio; Zampino, Giuseppe; Leoni, Chiara
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature
2024 Trevisan, Valentina; Meroni, Anna; Leoni, Chiara; Sirchia, F; Politano, D; Fiandrino, G; Giorgio, Valentina; Rigante, Donato; Limongelli, Domenico; Perri, L; Sforza, Elisabetta; Leonardi, Fabio; Viscogliosi, Germana; Contaldo, Ilaria; Orteschi, D; Proietti, Luca; Zampino, Giuseppe; Onesimo, Roberta
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes
2024 Onesimo, Roberta; Sforza, Elisabetta; Triumbari, Eka; Proli, Francesco; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Trevisan, Valentina; Kuczynska, Em; De Rose, Cristina; Cerchiari, A; Pane, Marika; Mercuri, Eugenio Maria; Belafsky, P; Zampino, Giuseppe
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes
2024 Onesimo, Roberta; Sforza, Elisabetta; Triumbari, Eka; Proli, Francesco; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Trevisan, V; Kuczynska, Em; De Rose, Cristina; Cerchiari, A; Pane, Marika; Mercuri, Eugenio Maria; Belafsky, P; Zampino, Giuseppe
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations
2023 Rigante, Donato; Leoni, Chiara; Onesimo, Roberta; Giorgio, Valentina; Trevisan, V; Zampino, Giuseppe
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature
2023 Onesimo, Roberta; Agazzi, Cristiana; Massimi, Luca; Giorgio, Valentina; Leoni, Chiara; Zampino, Giuseppe; Rendeli, Claudia
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
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, Ek; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Proli, Francesco; Kuczynska, Em; Ramsay, M; Zampino, Giuseppe
Efficacy and safety of growth hormone therapy in children with Noonan syndrome
2023 Sodero, Giorgio; Cipolla, Clelia; Pane, Lucia Celeste; Sessa, Linda; Malavolta, Elena; Arzilli, Federica; Leoni, Chiara; Zampino, Giuseppe; Rigante, Donato
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome.
2023 Onesimo, Roberta; Sforza, Elisabetta; Trevisan, Valentina; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Kuczynska, Em; Proli, Francesco; Agazzi, Cristiana; Limongelli, Domenico; Digilio, Mc; Dentici, Ml; Macchiaiolo, M; Novelli, A; Bartuli, A; Sinibaldi, L; Tartaglia, M; Zampino, Giuseppe
How pain affect real life of children and adults with achondroplasia: a systematic review
2023 Onesimo, Roberta; Sforza, Elisabetta; Bedeschi, Mf; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; De Rose, C; Kuczynska, Em; Romeo, Domenico Marco Maurizio; Palmacci, Osvaldo; Massimi, Luca; Porro, M; Gonfiantini, Mv; Selicorni, A; Allegri, A; Maghnie, M; Zampino, Giuseppe
How pain affect real life of children and adults with achondroplasia: A systematic review
2023 Onesimo, Roberta; Sforza, Elisabetta; Bedeschi, M. F.; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; De Rose, Cristina; Kuczynska, E. M.; Romeo, Domenico Marco; Palmacci, Osvaldo; Massimi, Luca; Porro, M.; Gonfiantini, M. V.; Selicorni, A.; Allegri, A.; Maghnie, M.; Zampino, Giuseppe
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review
2023 Cipolla, Clelia; Sessa, Linda; Rotunno, Giulia; Sodero, Giorgio; Proli, Francesco; Veredice, Chiara; Giorgio, Valentina; Leoni, Chiara; Rosati, J; Limongelli, Domenico; Kuczynska, E; Sforza, Elisabetta; Trevisan, Valentina; Rigante, Donato; Zampino, Giuseppe; Onesimo, Roberta
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2025 | Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort | Di Majo, Be; Leoni, Chiara; Cartisano, E; Fossati, C; Viscogliosi, Germana; Trevisan, Valentina; Bruno, Lp; Conti, F; Moratti, M; Monaco, E; Rigante, Donato; Rivalta, B; Cancrini, C; Szczawińska-Popłonyk, A; Jamsheer, A; Obara-Moszyńska, M; Zakharova, V; Shcherbina, A; Rodina, J; Tüysüz, B; Jamuar, Ss; Lim, Jy; Goh, J; Cereda, A; Agovino, T; Contaldo, Ilaria; Gambardella, Maria Luigia; Balduzzi, Ac; Cherubino, Alessia; Marrocco, Giovanni Antonio; Bellesi, Silvia; Carusi, V; Rumi, Gabriele; Biondi, A; Zampino, Giuseppe; Saettini, F | |
| 1-gen-2025 | Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1. | Calà, F; Sforza, Elisabetta; D’Alatri, L; Frassineti, L; Manfredi, C; Onesimo, Roberta; Rigante, Donato; Pane, Marika; Servidei, Serenella; Primiano, Guido Alessandro; Crisponi, G; Crisponi, L; Leoni, Chiara; Lanatà, A; Zampino, Giuseppe | |
| 1-gen-2024 | A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment | Trevisan, Valentina; De Corso, Eugenio; Viscogliosi, Germana; Onesimo, Roberta; Cina, Alessandro; Panfili, Marco; Perri, L; Agazzi, Cristiana; Giorgio, Valentina; Rigante, Donato; Vento, Giovanni; Papacci, Patrizia; Paradiso, Filomena Valentina; Silvaroli, Sara; Nanni, Lorenzo; Resta, N; Castori, M; Galli, Jacopo; Paludetti, Gaetano; Zampino, Giuseppe; Leoni, Chiara | |
| 1-gen-2024 | Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data | Cutrona, Costanza; De Sanctis, Roberto; Coratti, Giorgia; Capasso, Anna; Ricci, Martina; Stanca, Giulia; Carnicella, Sara; Utlulig, Meric; Bersani, Giulia; Lazzareschi, Ilaria; Leoni, Chiara; Buonsenso, Danilo; Luciano, Rita Paola Maria; Vento, Giovanni; Finkel, Richard S; Pane, Marika; Mercuri, Eugenio Maria | |
| 1-gen-2024 | Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome | Proli, Francesco; Sforza, Elisabetta; Faragalli, A; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Kuczynska, E; Veredice, Chiara; Limongelli, Domenico; Zappalà, A; Rosati, J; Pennuto, M; Trevisan, Valentina; Zampino, Giuseppe; Onesimo, Roberta | |
| 1-gen-2024 | Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome | Onesimo, Roberta; Sforza, Elisabetta; Palermo, F; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Trevisan, Valentina; Agazzi, Cristiana; Limongelli, Domenico; Proli, Francesco; Kuczynska, Em; Crisponi, L; Crisponi, G; Zampino, Giuseppe | |
| 1-gen-2024 | Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies | Romeo, Domenico Marco; Pironi, Virginia; Velli, Chiara; Sforza, Elisabetta; Rigante, Donato; Giorgio, Valentina; Leoni, Chiara; De Rose, Cristina; Kuczynska, Em; Limongelli, L; Ruiz, Roberta Giusy; Agazzi, Cristiana; Mercuri, Eugenio Maria; Zampino, Giuseppe; Onesimo, Roberta | |
| 1-gen-2024 | Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma | Trevisan, Valentina; Viscogliosi, Germana; Savino, Gustavo; Salerni, Annabella; Perri, L; Russo, Rosellina; Benenati, M; Calandrelli, Rosalinda; Onesimo, Roberta; Giorgio, Valentina; Rigante, Donato; Genuardi, Maurizio; Zampino, Giuseppe; Leoni, Chiara | |
| 1-gen-2024 | Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature | Trevisan, Valentina; Meroni, Anna; Leoni, Chiara; Sirchia, F; Politano, D; Fiandrino, G; Giorgio, Valentina; Rigante, Donato; Limongelli, Domenico; Perri, L; Sforza, Elisabetta; Leonardi, Fabio; Viscogliosi, Germana; Contaldo, Ilaria; Orteschi, D; Proietti, Luca; Zampino, Giuseppe; Onesimo, Roberta | |
| 1-gen-2024 | Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes | Onesimo, Roberta; Sforza, Elisabetta; Triumbari, Eka; Proli, Francesco; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Trevisan, Valentina; Kuczynska, Em; De Rose, Cristina; Cerchiari, A; Pane, Marika; Mercuri, Eugenio Maria; Belafsky, P; Zampino, Giuseppe | |
| 1-gen-2024 | Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes | Onesimo, Roberta; Sforza, Elisabetta; Triumbari, Eka; Proli, Francesco; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Trevisan, V; Kuczynska, Em; De Rose, Cristina; Cerchiari, A; Pane, Marika; Mercuri, Eugenio Maria; Belafsky, P; Zampino, Giuseppe | |
| 1-gen-2023 | Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations | Rigante, Donato; Leoni, Chiara; Onesimo, Roberta; Giorgio, Valentina; Trevisan, V; Zampino, Giuseppe | |
| 1-gen-2023 | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature | Onesimo, Roberta; Agazzi, Cristiana; Massimi, Luca; Giorgio, Valentina; Leoni, Chiara; Zampino, Giuseppe; Rendeli, Claudia | |
| 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-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, Ek; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Proli, Francesco; Kuczynska, Em; Ramsay, M; Zampino, Giuseppe | |
| 1-gen-2023 | Efficacy and safety of growth hormone therapy in children with Noonan syndrome | Sodero, Giorgio; Cipolla, Clelia; Pane, Lucia Celeste; Sessa, Linda; Malavolta, Elena; Arzilli, Federica; Leoni, Chiara; Zampino, Giuseppe; Rigante, Donato | |
| 1-gen-2023 | From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. | Onesimo, Roberta; Sforza, Elisabetta; Trevisan, Valentina; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; Kuczynska, Em; Proli, Francesco; Agazzi, Cristiana; Limongelli, Domenico; Digilio, Mc; Dentici, Ml; Macchiaiolo, M; Novelli, A; Bartuli, A; Sinibaldi, L; Tartaglia, M; Zampino, Giuseppe | |
| 1-gen-2023 | How pain affect real life of children and adults with achondroplasia: a systematic review | Onesimo, Roberta; Sforza, Elisabetta; Bedeschi, Mf; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; De Rose, C; Kuczynska, Em; Romeo, Domenico Marco Maurizio; Palmacci, Osvaldo; Massimi, Luca; Porro, M; Gonfiantini, Mv; Selicorni, A; Allegri, A; Maghnie, M; Zampino, Giuseppe | |
| 1-gen-2023 | How pain affect real life of children and adults with achondroplasia: A systematic review | Onesimo, Roberta; Sforza, Elisabetta; Bedeschi, M. F.; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; De Rose, Cristina; Kuczynska, E. M.; Romeo, Domenico Marco; Palmacci, Osvaldo; Massimi, Luca; Porro, M.; Gonfiantini, M. V.; Selicorni, A.; Allegri, A.; Maghnie, M.; Zampino, Giuseppe | |
| 1-gen-2023 | Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review | Cipolla, Clelia; Sessa, Linda; Rotunno, Giulia; Sodero, Giorgio; Proli, Francesco; Veredice, Chiara; Giorgio, Valentina; Leoni, Chiara; Rosati, J; Limongelli, Domenico; Kuczynska, E; Sforza, Elisabetta; Trevisan, Valentina; Rigante, Donato; Zampino, Giuseppe; Onesimo, Roberta |