Onesimo, Roberta
Onesimo, Roberta
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
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
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
2024 Pane, Marika; Stanca, Giulia; Ticci, Chiara; Cutrona, Costanza; De Sanctis, Roberto; Pirinu, Matteo; Coratti, Giorgia; Palermo, Concetta; Berti, Beatrice; Leone, Daniela; Sacchini, Michele; Cerboneschi, Margherita; Fanelli, Lavinia; Norcia, Giulia; Forcina, Nicola; Capasso, Anna; Cicala, Gianpaolo; Antonaci, Laura; Ricci, Martina; Pera, Maria Carmela; Bravetti, Chiara; Donati, Maria Alice; Procopio, Elena; Abiusi, Emanuela; Vaisfeld, Alessandro; Onesimo, Roberta; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria
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
From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome
2024 Sforza, Elisabetta; Calà, Federico; Manfredi, Claudia; Lanatà, Antonio; Guala, Andrea; Danesino, Cesare; Cistaro, Angelina; Mazzocca, Matelda; D'Alatri, Lucia; Onesimo, Roberta; Frassineti, Lorenzo; 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
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study
2024 Pane, Marika; Stanca, G.; Coratti, Giorgia; D' Amico, A.; Sansone, V. A.; Berti, B.; Fanelli, Lavinia; Albamonte, E.; Ausili Cefaro, Carolina; Cerchiari, A.; Catteruccia, M.; De Sanctis, Roberto; Leone, D.; Palermo, C.; Buchignani, B.; Onesimo, Roberta; Kuczynska, E. M.; Tosi, M.; Pera, Maria Carmela; Bravetti, Chiara; Tiziano, Francesco Danilo; Bertini, E.; Mercuri, Eugenio Maria
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology
2024 Musto, Elisa; Gambardella, Maria Luigia; Perulli, Marco; Quintiliani, Michela; Veredice, Chiara; Verdolotti, Tommaso; Berte, G.; Leoni, C.; Onesimo, Roberta; Pulitano', Silvia Maria; Tartaglia, M.; Zampino, Giuseppe; Contaldo, Ilaria; Battaglia, Domenica Immacolata
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, V; 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, Valentina; 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
Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics
2023 Calà, Federico; Frassineti, Lorenzo; Sforza, Elisabetta; Onesimo, Roberta; D'Alatri, Lucia; Manfredi, Claudia; Lanata, Antonio; 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
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
2023 Sinibaldi, L; Garone, G; Mandarino, A; Iarossi, G; Chioma, L; Dentici, M; Merla, G; Agolini, E; Micalizzi, A; Mancini, C; Niceta, M; Macchiaiolo, M; Diodato, D; Onesimo, Roberta; Blandino, Rita; Delogu, Angelica Bibiana; De Rosa, Gabriella; Trevisan, Valentina; Iademarco, Mariella; Zampino, Giuseppe; Tartaglia, M; Novelli, A; Bartuli, A; Digilio, Mc; Calcagni, G
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
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
2023 van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; Mcconkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske
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
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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 | 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 | Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? | Pane, Marika; Stanca, Giulia; Ticci, Chiara; Cutrona, Costanza; De Sanctis, Roberto; Pirinu, Matteo; Coratti, Giorgia; Palermo, Concetta; Berti, Beatrice; Leone, Daniela; Sacchini, Michele; Cerboneschi, Margherita; Fanelli, Lavinia; Norcia, Giulia; Forcina, Nicola; Capasso, Anna; Cicala, Gianpaolo; Antonaci, Laura; Ricci, Martina; Pera, Maria Carmela; Bravetti, Chiara; Donati, Maria Alice; Procopio, Elena; Abiusi, Emanuela; Vaisfeld, Alessandro; Onesimo, Roberta; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria | |
| 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 | From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome | Sforza, Elisabetta; Calà, Federico; Manfredi, Claudia; Lanatà, Antonio; Guala, Andrea; Danesino, Cesare; Cistaro, Angelina; Mazzocca, Matelda; D'Alatri, Lucia; Onesimo, Roberta; Frassineti, Lorenzo; 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 | Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study | Pane, Marika; Stanca, G.; Coratti, Giorgia; D' Amico, A.; Sansone, V. A.; Berti, B.; Fanelli, Lavinia; Albamonte, E.; Ausili Cefaro, Carolina; Cerchiari, A.; Catteruccia, M.; De Sanctis, Roberto; Leone, D.; Palermo, C.; Buchignani, B.; Onesimo, Roberta; Kuczynska, E. M.; Tosi, M.; Pera, Maria Carmela; Bravetti, Chiara; Tiziano, Francesco Danilo; Bertini, E.; Mercuri, Eugenio Maria | |
| 1-gen-2024 | Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology | Musto, Elisa; Gambardella, Maria Luigia; Perulli, Marco; Quintiliani, Michela; Veredice, Chiara; Verdolotti, Tommaso; Berte, G.; Leoni, C.; Onesimo, Roberta; Pulitano', Silvia Maria; Tartaglia, M.; Zampino, Giuseppe; Contaldo, Ilaria; Battaglia, Domenica Immacolata | |
| 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, V; 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, Valentina; 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 | Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics | Calà, Federico; Frassineti, Lorenzo; Sforza, Elisabetta; Onesimo, Roberta; D'Alatri, Lucia; Manfredi, Claudia; Lanata, Antonio; 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 | Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness | Sinibaldi, L; Garone, G; Mandarino, A; Iarossi, G; Chioma, L; Dentici, M; Merla, G; Agolini, E; Micalizzi, A; Mancini, C; Niceta, M; Macchiaiolo, M; Diodato, D; Onesimo, Roberta; Blandino, Rita; Delogu, Angelica Bibiana; De Rosa, Gabriella; Trevisan, Valentina; Iademarco, Mariella; Zampino, Giuseppe; Tartaglia, M; Novelli, A; Bartuli, A; Digilio, Mc; Calcagni, G | |
| 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 | Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature | van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; Mcconkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske | |
| 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 |