RANIERI, CARLOTTA
RANIERI, CARLOTTA
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
2021-01-01 Carli, Diana; Ferrero, Giovanni Battista; Fusillo, Anna; Coppo, Paola; La Selva, Roberta; Zinali, Federica; Cardaropoli, Simona; Ranieri, Carlotta; Iacoviello, Matteo; Resta, Nicoletta; Mussa, Alessandro
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis
2022-01-01 Santobuono, Vincenzo Ezio; Guaricci, Andrea Igoren; Carulli, Eugenio; Bozza, Nicola; Pepe, Martino; Ranauro, Alfredo; Ranieri, Carlotta; Carella, Maria Cristina; Loizzi, Francesco; Resta, Nicoletta; Favale, Stefano; Forleo, Cinzia
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers
2022-01-01 Turchiano, Antonella; Loconte, Daria Carmela; De Nola, Rosalba; Arezzo, Francesca; Chiarello, Giulia; Pantaleo, Antonino; Iacoviello, Matteo; Bagnulo, Rosanna; De Luisi, Annunziata; Perrelli, Sonia; Martino, Stefania; Ranieri, Carlotta; Garganese, Antonella; Stella, Alessandro; Forleo, Cinzia; Loizzi, Vera; Marinaccio, Marco; Cicinelli, Ettore; Cormio, Gennaro; Resta, Nicoletta
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
2021-01-01 Forde, Karina; Resta, Nicoletta; Ranieri, Carlotta; Rea, David; Kubassova, Olga; Hinton, Mark; Andrews, Katrina A; Semple, Robert; Irvine, Alan D; Dvorakova, Veronika
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al
2021-01-01 Resta, Nicoletta; Calabrese, Olga; Grossi, Valentina; Lugli, Licia; Simone, Cristiano; Ranieri, Carlotta; Piglionica, Marilidia; Signorile, Martina Lepore; Rossi, Katia; Carli, Diana; Mussa, Alessandro
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
2023-01-01 Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma
2019-01-01 Leoni, C.; Gullo, G.; Resta, N.; Fagotti, A.; Onesimo, R.; Schwartz, B.; Kazakin, J.; Abbadessa, G.; Crown, J.; Collins, C. D.; Ranieri, C.; Scambia, G.; Zampino, G.
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects
2021-01-01 Gentile, M.; Ranieri, C.; Loconte, D. C.; Ponzi, E.; Ficarella, R.; Volpe, P.; Scalzo, G.; Signorile, M. L.; Grossi, V.; Cordella, A.; Ventola, G. M.; Susca, F. C.; Turchiano, A.; Simone, C.; Resta, N.
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder
2017-01-01 Cappuccio, Gerarda; Alagia, Marianna; D'Anna, Mariangela; Ranieri, Carlotta; Di Tommaso, Silvia; Bruno, Claudio; Fiorillo, Chiara; Pedemonte, Marina; Loconte, Daria; Della Casa, Roberto; Strisciuglio, Pietro; Ginocchio, Maria Isabella; Pinelli, Michele; Resta, Nicoletta; Brunetti-Pierri, Nicola
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2022-01-01 Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
2019-01-01 Zollino, Marcella; Ranieri, Carlotta; Grossi, Valentina; Leoni, Chiara; Lattante, Serena; Mazzà, Daniela; Simone, Cristiano; Resta, Nicoletta
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report
2021-01-01 Santobuono, Vincenzo Ezio; Guaricci, Andrea Igoren; Carulli, Eugenio; Bozza, Nicola; Pepe, Martino; Ranauro, Alfredo; Ranieri, Carlotta; Carella, Maria Cristina; Loizzi, Francesco; Resta, Nicoletta; Favale, Stefano; Forleo, Cinzia
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: another piece added to the puzzle of mosaic RASopathies
2022-01-01 Mussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Gabriele Vallero, Stefano; Bertin, Daniele; Santoro, Federica; Carli, Diana; Battista Ferrero, Giovanni; Resta, Nicoletta
The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein
2020-01-01 Laforgia, N.; De Cosmo, L.; Palumbo, O.; Ranieri, C.; Sesta, M.; Capodiferro, D.; Pantaleo, A.; Iapicca, P.; Lastella, P.; Capozza, M.; Schettini, F.; Bukvic, N.; Bagnulo, R.; Resta, N.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth | 1-gen-2021 | Carli, Diana; Ferrero, Giovanni Battista; Fusillo, Anna; Coppo, Paola; La Selva, Roberta; Zinali, Federica; Cardaropoli, Simona; Ranieri, Carlotta; Iacoviello, Matteo; Resta, Nicoletta; Mussa, Alessandro | |
| A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis | 1-gen-2022 | Santobuono, Vincenzo Ezio; Guaricci, Andrea Igoren; Carulli, Eugenio; Bozza, Nicola; Pepe, Martino; Ranauro, Alfredo; Ranieri, Carlotta; Carella, Maria Cristina; Loizzi, Francesco; Resta, Nicoletta; Favale, Stefano; Forleo, Cinzia | |
| Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers | 1-gen-2022 | Turchiano, Antonella; Loconte, Daria Carmela; De Nola, Rosalba; Arezzo, Francesca; Chiarello, Giulia; Pantaleo, Antonino; Iacoviello, Matteo; Bagnulo, Rosanna; De Luisi, Annunziata; Perrelli, Sonia; Martino, Stefania; Ranieri, Carlotta; Garganese, Antonella; Stella, Alessandro; Forleo, Cinzia; Loizzi, Vera; Marinaccio, Marco; Cicinelli, Ettore; Cormio, Gennaro; Resta, Nicoletta | |
| Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome | 1-gen-2021 | Forde, Karina; Resta, Nicoletta; Ranieri, Carlotta; Rea, David; Kubassova, Olga; Hinton, Mark; Andrews, Katrina A; Semple, Robert; Irvine, Alan D; Dvorakova, Veronika | |
| Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al | 1-gen-2021 | Resta, Nicoletta; Calabrese, Olga; Grossi, Valentina; Lugli, Licia; Simone, Cristiano; Ranieri, Carlotta; Piglionica, Marilidia; Signorile, Martina Lepore; Rossi, Katia; Carli, Diana; Mussa, Alessandro | |
| Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) | 1-gen-2023 | Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro | |
| First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma | 1-gen-2019 | Leoni, C.; Gullo, G.; Resta, N.; Fagotti, A.; Onesimo, R.; Schwartz, B.; Kazakin, J.; Abbadessa, G.; Crown, J.; Collins, C. D.; Ranieri, C.; Scambia, G.; Zampino, G. | |
| Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects | 1-gen-2021 | Gentile, M.; Ranieri, C.; Loconte, D. C.; Ponzi, E.; Ficarella, R.; Volpe, P.; Scalzo, G.; Signorile, M. L.; Grossi, V.; Cordella, A.; Ventola, G. M.; Susca, F. C.; Turchiano, A.; Simone, C.; Resta, N. | |
| Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder | 1-gen-2017 | Cappuccio, Gerarda; Alagia, Marianna; D'Anna, Mariangela; Ranieri, Carlotta; Di Tommaso, Silvia; Bruno, Claudio; Fiorillo, Chiara; Pedemonte, Marina; Loconte, Daria; Della Casa, Roberto; Strisciuglio, Pietro; Ginocchio, Maria Isabella; Pinelli, Michele; Resta, Nicoletta; Brunetti-Pierri, Nicola | |
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants | 1-gen-2022 | Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta | |
| Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay | 1-gen-2019 | Zollino, Marcella; Ranieri, Carlotta; Grossi, Valentina; Leoni, Chiara; Lattante, Serena; Mazzà, Daniela; Simone, Cristiano; Resta, Nicoletta | |
| Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report | 1-gen-2021 | Santobuono, Vincenzo Ezio; Guaricci, Andrea Igoren; Carulli, Eugenio; Bozza, Nicola; Pepe, Martino; Ranauro, Alfredo; Ranieri, Carlotta; Carella, Maria Cristina; Loizzi, Francesco; Resta, Nicoletta; Favale, Stefano; Forleo, Cinzia | |
| Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: another piece added to the puzzle of mosaic RASopathies | 1-gen-2022 | Mussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Gabriele Vallero, Stefano; Bertin, Daniele; Santoro, Federica; Carli, Diana; Battista Ferrero, Giovanni; Resta, Nicoletta | |
| The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein | 1-gen-2020 | Laforgia, N.; De Cosmo, L.; Palumbo, O.; Ranieri, C.; Sesta, M.; Capodiferro, D.; Pantaleo, A.; Iapicca, P.; Lastella, P.; Capozza, M.; Schettini, F.; Bukvic, N.; Bagnulo, R.; Resta, N. |