Gioia Mastromoro (G Mastromoro)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 24

Top Topics

Systematic Review

Congenital Heart Disease

Top Venues

American journal of medical genetics. Part A

Diagnostics (Basel, Switzerland)

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

This page only lists publications with an associated author ORCID identifier.

Publications

Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Rosanna Squitti, Claudio Catalli, Laura Gigante, Massimo Marianetti, Mattia Rosari, Stefania Mariani, Serena Bucossi, Gioia Mastromoro, Mariacarla Ventriglia, Ilaria Simonelli, Vincenzo Tondolo, Parminder Singh, Ashok Kumar, Amit Pal, Mauro Rongioletti
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant. International journal of molecular sciences 24 (7) (2023)
Gioia Mastromoro, Valerio Romano, Riccardo Riccardi, Luigi Orfeo, Gerardo Piacentini
Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect. Circulation. Cardiovascular imaging (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Antonio Novelli, Barbara Torres, Maria Piane, Monia Magliozzi, Laura Bernardini, Flavia Ventriglia, Antonio Pizzuti, Simona Petrucci
Prenatal CFAP53 -related laterality defect: case report and review of the literature. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 36 (1) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, De Marchis Laura, Maria Piane, Antonio Pizzuti
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility. Biomedicines 11 (7) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A (2023)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
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. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa, Antonio Pizzuti
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis. Diagnostics (Basel, Switzerland) 12 (3) (2022)
Aldo Germani, Daniele Guadagnolo, Valentina Salvati, Caterina Micolonghi, Rita Mancini, Gioia Mastromoro, Soha Sadeghi, Simona Petrucci, Antonio Pizzuti, Maria Piane
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer. Diagnostics (Basel, Switzerland) 12 (7) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
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. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Gioia Mastromoro, Giulio Calcagni, Walter Vignaroli, Silvia Anaclerio, Flaminia Pugnaloni, Gabriele Rinelli, Aurelio Secinaro, Veronica Bordonaro, Carolina Putotto, Marta Unolt, Maria Cristina Digilio, Bruno Marino, Paolo Versacci
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature. American journal of medical genetics. Part A 188 (8) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
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. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Daniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, Antonio Pizzuti, Enrica Marchionni
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review. Diagnostics (Basel, Switzerland) 11 (2) (2021)
Enrica Marchionni, Emanuele Agolini, Gioia Mastromoro, Daniele Guadagnolo, Giulia Coppola, Mario Roggini, Mara Riminucci, Antonio Novelli, Antonella Giancotti, Alessandro Corsi, Antonio Pizzuti
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. American journal of medical genetics. Part A 185 (5) (2021)
Gioia Mastromoro, Alessandro De Luca, Enrica Marchionni, Antonella Spagnuolo, Flavia Ventriglia, Lucia Manganaro, Antonio Pizzuti
External hydrocephalus as a prenatal feature of noonan syndrome. Annals of human genetics 85 (6) (2021)
G Piacentini, Gioia Mastromoro, A Bottoni, V Romano, R Riccardi, L Orfeo
Pathophysiology of coarctation of aorta in dichorionic twins with growth discordance. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2021)
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Tartaglia Marco, Martin Zenker
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. European journal of human genetics : EJHG 29 (1) (2020)
Gioia Mastromoro, Antonio Pizzuti, Flavia Ventriglia
Role of ductus venosus agenesis in right ventricle development. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (2020)