Mastromoro, Gioia

Mastromoro, Gioia  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

Mostra prodotti
Risultati 1 - 20 di 41 (tempo di esecuzione: 0.032 secondi).
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 2022 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 TAUSSIG DE BODONIA, 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
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 2023 Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio