MARCHIONNI, ENRICA
MARCHIONNI, ENRICA
DIPARTIMENTO DI MEDICINA SPERIMENTALE
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
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
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
2021 Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V.
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance
2020 Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana
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
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
Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins
2019 Marchionni, E.; Meneret, A.; Keren, B.; Melki, J.; Denier, C.; Durr, A.; Apartis, E.; Boespflug-Tanguy, O.; Mochel, F.
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
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis
2017 Giancotti, Antonella; D'Ambrosio, Valentina; Marchionni, Enrica; Squarcella, Antonia; Aliberti, Camilla; LA TORRE, Renato; Manganaro, Lucia; Pizzuti, Antonio
Prenatal exome sequencing in central nervous system anomalies: diagnostic yield and challenges
2023 Marchionni, Enrica
Prenatal exome sequencing: background, current practice and future perspectives - A systematic review
2021 Guadagnolo, Daniele; Mastromoro, Gioia; Di Palma, Francesca; Pizzuti, Antonio; Marchionni, Enrica
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis
2024 Marchionni, Enrica; Guadagnolo, Daniele; Mastromoro, Gioia; Pizzuti, Antonio
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
2019 Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings
2021 Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; DI GIOIA, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study
2017 Manganaro, Lucia; Bernardo, Silvia; DE VITO, Corrado; Antonelli, Amanda; Marchionni, Enrica; Vinci, Valeria; Saldari, Matteo; Di Meglio, L; Giancotti, Antonella; Silvestri, E; Catalano, Carlo; Pizzuti, Antonio
Tlr4 t399i polymorphism and endometriosis in a cohort of italian women
2020 Marchionni, Enrica; Porpora, Maria Grazia; Megiorni, Francesca; Piacenti, Ilaria; Giovannetti, Agnese; Marchese, Cinzia; Benedetti Panici, Pierluigi; Pizzuti, Antonio
Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters
2020 Di Palma, F.; Goldoni, M.; Marchionni, E.; Caravale, B.; Mondovì, M. T.; Mastromoro, G.; Guadagnolo, D.; Versacci, P.; D'Ambrosio, V.; Giancotti, A.; Bernardini, L.; Pizzuti, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations | 2021 | Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. | |
| Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance | 2020 | Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana | |
| 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 | |
| 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 | |
| Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins | 2019 | Marchionni, E.; Meneret, A.; Keren, B.; Melki, J.; Denier, C.; Durr, A.; Apartis, E.; Boespflug-Tanguy, O.; Mochel, F. | |
| 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 | |
| Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis | 2017 | Giancotti, Antonella; D'Ambrosio, Valentina; Marchionni, Enrica; Squarcella, Antonia; Aliberti, Camilla; LA TORRE, Renato; Manganaro, Lucia; Pizzuti, Antonio | |
| Prenatal exome sequencing in central nervous system anomalies: diagnostic yield and challenges | 2023 | Marchionni, Enrica | |
| Prenatal exome sequencing: background, current practice and future perspectives - A systematic review | 2021 | Guadagnolo, Daniele; Mastromoro, Gioia; Di Palma, Francesca; Pizzuti, Antonio; Marchionni, Enrica | |
| Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis | 2024 | Marchionni, Enrica; Guadagnolo, Daniele; Mastromoro, Gioia; Pizzuti, Antonio | |
| Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. | 2019 | Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A | |
| Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings | 2021 | Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; DI GIOIA, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio | |
| Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study | 2017 | Manganaro, Lucia; Bernardo, Silvia; DE VITO, Corrado; Antonelli, Amanda; Marchionni, Enrica; Vinci, Valeria; Saldari, Matteo; Di Meglio, L; Giancotti, Antonella; Silvestri, E; Catalano, Carlo; Pizzuti, Antonio | |
| Tlr4 t399i polymorphism and endometriosis in a cohort of italian women | 2020 | Marchionni, Enrica; Porpora, Maria Grazia; Megiorni, Francesca; Piacenti, Ilaria; Giovannetti, Agnese; Marchese, Cinzia; Benedetti Panici, Pierluigi; Pizzuti, Antonio | |
| Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters | 2020 | Di Palma, F.; Goldoni, M.; Marchionni, E.; Caravale, B.; Mondovì, M. T.; Mastromoro, G.; Guadagnolo, D.; Versacci, P.; D'Ambrosio, V.; Giancotti, A.; Bernardini, L.; Pizzuti, A. |