Mastromoro, Gioia
Mastromoro, Gioia
DIPARTIMENTO DI MEDICINA MOLECOLARE
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1
2020 Giuffrida, M. G.; Mastromoro, G.; Guida, V.; Truglio, M.; Fabbretti, M.; Torres, B.; Mazza, T.; De Luca, A.; Roggini, M.; Bernardini, L.; Pizzuti, A.
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series
2023 Mastromoro, Gioia; Guadagnolo, Daniele; KHALEGHI HASHEMIAN, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; Pizzuti, Antonio
Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect
2023 Mastromoro, Gioia; Romano, Valerio; Riccardi, Riccardo; Orfeo, Luigi; Piacentini, Gerardo
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
2023 Putotto, Carolina; Unolt, Marta; Lambiase, Caterina; Marchetti, Flaminia; Anaclerio, Silvia; Favoriti, Alessandra; Tancredi, Giancarlo; Mastromoro, Gioia; Pugnaloni, Flaminia; Liberati, Natascia; De Luca, Enrica; Tarani, Luigi; De Canditiis, Daniela; Caputo, Viviana; Bernardini, Laura; Digilio, Maria Cristina; Marino, Bruno; Versacci, Paolo
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis
2022 Mastromoro, Gioia; KHALEGHI HASHEMIAN, Nader; Guadagnolo, Daniele; Grazia Giuffrida, Maria; Torres, Barbara; Bernardini, Laura; Ventriglia, Flavia; Piacentini, Gerardo; Pizzuti, Antonio
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy
2019 Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; DI GIOSAFFATTE, Niccolo'; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
2023 Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro
Coexisting genetic findings in a cohort of patients with laboratory confirmation of 22q11.2 deletion syndrome
2022 Pugnaloni, F.; Putotto, C.; Mastromoro, G.; Pulvirenti, F.; Maiolo, S.; Unolt, M.; Digilio, M. C.; Giovannetti, A.; Caputo, V.; Versacci, P.; Marino, B.
Correspondence to “Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease”
2023 Mastromoro, Gioia; Piacentini, Gerardo
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene
2022 Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Giancotti, Antonella; Grazia Giuffrida, Maria; Bernardini, Laura; Pizzuti, Antonio
Crossed pulmonary arteries. an underestimated cardiovascular variant with a strong association with genetic syndromes{\textemdash}A report of 74 cases with systematic review of the literature
2022 Mastromoro, Gioia; Calcagni, Giulio; Vignaroli, Walter; Anaclerio, Silvia; Pugnaloni, Flaminia; Rinelli, Gabriele; Secinaro, Aurelio; Bordonaro, Veronica; Putotto, Carolina; Unolt, Marta; Cristina Digilio, Maria; Marino, Bruno; Versacci, Paolo
DETECTION OF CARDIOVASCULAR ABNORMALITIES IN PEDIATRIC PATIENTS WITH EHLERS-DANLOS SYNDROME: ROLE OF NEW ECHOCARDIOGRAPHIC TECHNIQUES
2015 Vignaroli, W; Mastromoro, G; Camerota, F; Celletti, C; Celli, M; Turchetti, A; Zambrano, A; Marino, B; Versacci, P
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
2023 Guadagnolo, Daniele; Mastromoro, Gioia; Torres, Barbara; Marchionni, Enrica; DI PALMA, Francesca; Goldoni, Marina; Cocciadiferro, Dario; Novelli, Antonio; Bernardini, Laura; Pizzuti, Antonio
External hydrocephalus as a prenatal feature of Noonan Syndrome
2021 Mastromoro, G.; De Luca, A.; Marchionni, E.; Spagnuolo, A.; Ventriglia, F.; Manganaro, L.; Pizzuti, A.
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy
2021 Marchionni, Enrica; Agolini, Emanuele; Mastromoro, Gioia; Guadagnolo, Daniele; Coppola, Giulia; Roggini, Mario; Riminucci, Mara; Novelli, Antonio; Giancotti, Antonella; Corsi, Alessandro; Pizzuti, Antonio
Fetal echocardiographic features of absent pulmonary valve syndrome
2022 Piacentini, Gerardo; Mastromoro, Gioia; Romano, Valerio; Riccardi, Riccardo; Orfeo, Luigi
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2
2023 Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio
First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures
2024 Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Zullo, Fabrizio; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer
2022 Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
2024 Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Currò, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, MARIA LISA; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Cristina Digilio, Maria; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1 | 2020 | Giuffrida, M. G.; Mastromoro, G.; Guida, V.; Truglio, M.; Fabbretti, M.; Torres, B.; Mazza, T.; De Luca, A.; Roggini, M.; Bernardini, L.; Pizzuti, A. | |
| A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series | 2023 | Mastromoro, Gioia; Guadagnolo, Daniele; KHALEGHI HASHEMIAN, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; Pizzuti, Antonio | |
| Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect | 2023 | Mastromoro, Gioia; Romano, Valerio; Riccardi, Riccardo; Orfeo, Luigi; Piacentini, Gerardo | |
| Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease | 2023 | Putotto, Carolina; Unolt, Marta; Lambiase, Caterina; Marchetti, Flaminia; Anaclerio, Silvia; Favoriti, Alessandra; Tancredi, Giancarlo; Mastromoro, Gioia; Pugnaloni, Flaminia; Liberati, Natascia; De Luca, Enrica; Tarani, Luigi; De Canditiis, Daniela; Caputo, Viviana; Bernardini, Laura; Digilio, Maria Cristina; Marino, Bruno; Versacci, Paolo | |
| Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis | 2022 | Mastromoro, Gioia; KHALEGHI HASHEMIAN, Nader; Guadagnolo, Daniele; Grazia Giuffrida, Maria; Torres, Barbara; Bernardini, Laura; Ventriglia, Flavia; Piacentini, Gerardo; Pizzuti, Antonio | |
| Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy | 2019 | Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; DI GIOSAFFATTE, Niccolo'; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro | |
| Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome | 2023 | Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro | |
| Coexisting genetic findings in a cohort of patients with laboratory confirmation of 22q11.2 deletion syndrome | 2022 | Pugnaloni, F.; Putotto, C.; Mastromoro, G.; Pulvirenti, F.; Maiolo, S.; Unolt, M.; Digilio, M. C.; Giovannetti, A.; Caputo, V.; Versacci, P.; Marino, B. | |
| Correspondence to “Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease” | 2023 | Mastromoro, Gioia; Piacentini, Gerardo | |
| Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene | 2022 | Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Giancotti, Antonella; Grazia Giuffrida, Maria; Bernardini, Laura; Pizzuti, Antonio | |
| Crossed pulmonary arteries. an underestimated cardiovascular variant with a strong association with genetic syndromes{\textemdash}A report of 74 cases with systematic review of the literature | 2022 | Mastromoro, Gioia; Calcagni, Giulio; Vignaroli, Walter; Anaclerio, Silvia; Pugnaloni, Flaminia; Rinelli, Gabriele; Secinaro, Aurelio; Bordonaro, Veronica; Putotto, Carolina; Unolt, Marta; Cristina Digilio, Maria; Marino, Bruno; Versacci, Paolo | |
| DETECTION OF CARDIOVASCULAR ABNORMALITIES IN PEDIATRIC PATIENTS WITH EHLERS-DANLOS SYNDROME: ROLE OF NEW ECHOCARDIOGRAPHIC TECHNIQUES | 2015 | Vignaroli, W; Mastromoro, G; Camerota, F; Celletti, C; Celli, M; Turchetti, A; Zambrano, A; Marino, B; Versacci, P | |
| Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region | 2023 | Guadagnolo, Daniele; Mastromoro, Gioia; Torres, Barbara; Marchionni, Enrica; DI PALMA, Francesca; Goldoni, Marina; Cocciadiferro, Dario; Novelli, Antonio; Bernardini, Laura; Pizzuti, Antonio | |
| External hydrocephalus as a prenatal feature of Noonan Syndrome | 2021 | Mastromoro, G.; De Luca, A.; Marchionni, E.; Spagnuolo, A.; Ventriglia, F.; Manganaro, L.; Pizzuti, A. | |
| Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy | 2021 | Marchionni, Enrica; Agolini, Emanuele; Mastromoro, Gioia; Guadagnolo, Daniele; Coppola, Giulia; Roggini, Mario; Riminucci, Mara; Novelli, Antonio; Giancotti, Antonella; Corsi, Alessandro; Pizzuti, Antonio | |
| Fetal echocardiographic features of absent pulmonary valve syndrome | 2022 | Piacentini, Gerardo; Mastromoro, Gioia; Romano, Valerio; Riccardi, Riccardo; Orfeo, Luigi | |
| Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 | 2023 | Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio | |
| First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures | 2024 | Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Zullo, Fabrizio; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio | |
| Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer | 2022 | Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria | |
| Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules | 2024 | Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Currò, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, MARIA LISA; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Cristina Digilio, Maria; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro |