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Mastromoro, Gioia

Mastromoro, Gioia  

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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
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
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.
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
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
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
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
Impact of genetic studies on comprehension and treatment of congenital heart disease 2018 Alicandro, Tatiana; Putotto, Carolina; Calcagni, Giulio; Unolt, Marta; Mastromoro, Gioia; Digilio, Maria Cristina; Versacci, Paolo; Marino, Bruno
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment 2021 Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Di Palma, Francesca; Gigante, Laura; Versacci, Paolo; Ventriglia, Flavia; Baldi, Marina; Pizzuti, Antonio
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. 2019 Mastromoro, Gioia; Calcagni, Giulio; Versacci, Paolo; Putotto, Carolina; Chinali, Marcello; Lambiase, Caterina; Unolt, Marta; Pelliccione, Elena; Anaclerio, Silvia; Caprio, Cinzia; Cioffi, Sara; Bilio, Marchesa; Baban, Anwar; Drago, Fabrizio; Cristina Digilio, Maria; MARINO TAUSSIG DE BODONIA, Bruno; Baldini, Antonio
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis 2022 Mastromoro, Gioia; Guadagnolo, Daniele; KHALEGHI HASHEMIAN, Nader; Marchionni, Enrica; Traversa, Alice; Pizzuti, Antonio
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells 2023 Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; Pizzuti, Antonio
Myoclonic epilepsy. case report of a mild phenotype in a pediatric patient expanding clinical spectrum of kcna2 pathogenic variants 2022 Perilli, L.; Mastromoro, G.; Murciano, M.; Amedeo, I.; Avenoso, F.; Pizzuti, A.; Guido, C. A.; Spalice, A.
Neonatal Marfan Syndrome by Inherited Mutation 2020 Mastromoro, Gioia; Guida, Valentina; Cellitti, Raffaella; Cardilli, Viviana; De Luca, Alessandro; Pizzuti, Antonio; Versacci, Paolo
Pathophysiology of coarctation of aorta in dichorionic twins with growth discordance 2022 Piacentini, G.; Mastromoro, G.; Bottoni, A.; Romano, V.; Riccardi, R.; Orfeo, L.
Pathophysiology of coarctation of the aorta in dichorionic twins with growth discordance 2022 Piacentini, G.; Mastromoro, G.; Bottoni, A.; Romano, V.; Riccardi, R.; Orfeo, L.