GUADAGNOLO, DANIELE
GUADAGNOLO, DANIELE
DIPARTIMENTO DI MEDICINA MOLECOLARE
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
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa
2025 Cordeddu, Viviana; Flex, Elisabetta; Mignini, Luca; Bruselles, Alessandro; Cecchetti, Serena; Messina, Elena; Arasi, Maria Beatrice; Carvetta, Mattia; Straface, Emilio; Leone, Alessandro; Guadagnolo, Daniele; D'Asdia, Maria Cecilia; Nebbioso, Marcella; Bellacchio, Emanuele; Dell'Aquila, Carmen; Ziccardi, Lucia; Pizzuti, Antonio; De Luca, Alessandro; Tartaglia, Marco
BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant
2025 De Marchis, L.; Gelibter, A. J.; Mammone, G.; Madaio, R. A.; Aretini, P.; De Bonis, M.; Zampatti, S.; Peconi, C.; Guadagnolo, D.; Vestri, A.; Pizzuti, A.; Giardina, E.; Capoluongo, E. D.; Minucci, A.
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
2025 Mastromoro, Gioia; Guadagnolo, Daniele; Gianno, Francesca; Khaleghi Hashemian, Nader; Terracciano, Alessandra; Bernardini, Laura; Giancotti, Antonella; Novelli, Antonio; Piacentini, Gerardo; Di Gioia, Cira Rosaria Tiziana; Pizzuti, Antonio
Case report. interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2. are all heterozygous born equals
2023 Pulvirenti, Federica; Cinicola, Bianca Laura; Ferrari, Simona; Guadagnolo, Daniele; Sculco, Eleonora; Capponi, Martina; Loffredo, Lorenzo; Sciannamea, Maddalena; Insalaco, Antonella; Quinti, Isabella; De Benedetti, Fabrizio; Zicari, Anna Maria
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
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
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 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
Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review
2025 Mastromoro, Gioia; Guadagnolo, Daniele; De Luca, Alessandro; Ciro Antonio Rongioletti, Mauro; 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
Functional cvids phenotype clusters identified by the integration of immune parameters after bnt162b2 boosters
2023 Piano Mortari, Eva; Pulvirenti, Federica; Marcellini, Valentina; Terreri, Sara; Salinas, Ane Fernandez; Ferrari, Simona; Di Napoli, Giulia; Guadagnolo, Daniele; Sculco, Eleonora; Albano, Christian; Guercio, Marika; Di Cecca, Stefano; Milito, Cinzia; Garzi, Giulia; Pesce, Anna Maria; Bonanni, Livia; Sinibaldi, Matilde; Bordoni, Veronica; Di Cecilia, Serena; Accordini, Silvia; Castilletti, Concetta; Agrati, Chiara; Quintarelli, Concetta; Zaffina, Salvatore; Locatelli, Franco; Carsetti, Rita; Quinti, Isabella
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.
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
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings
2021 Guadagnolo, Daniele; Piane, Maria; Torrisi, Maria Rosaria; Pizzuti, Antonio; Petrucci, Simona
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa | 2025 | Cordeddu, Viviana; Flex, Elisabetta; Mignini, Luca; Bruselles, Alessandro; Cecchetti, Serena; Messina, Elena; Arasi, Maria Beatrice; Carvetta, Mattia; Straface, Emilio; Leone, Alessandro; Guadagnolo, Daniele; D'Asdia, Maria Cecilia; Nebbioso, Marcella; Bellacchio, Emanuele; Dell'Aquila, Carmen; Ziccardi, Lucia; Pizzuti, Antonio; De Luca, Alessandro; Tartaglia, Marco | |
| BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant | 2025 | De Marchis, L.; Gelibter, A. J.; Mammone, G.; Madaio, R. A.; Aretini, P.; De Bonis, M.; Zampatti, S.; Peconi, C.; Guadagnolo, D.; Vestri, A.; Pizzuti, A.; Giardina, E.; Capoluongo, E. D.; Minucci, A. | |
| Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? | 2025 | Mastromoro, Gioia; Guadagnolo, Daniele; Gianno, Francesca; Khaleghi Hashemian, Nader; Terracciano, Alessandra; Bernardini, Laura; Giancotti, Antonella; Novelli, Antonio; Piacentini, Gerardo; Di Gioia, Cira Rosaria Tiziana; Pizzuti, Antonio | |
| Case report. interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2. are all heterozygous born equals | 2023 | Pulvirenti, Federica; Cinicola, Bianca Laura; Ferrari, Simona; Guadagnolo, Daniele; Sculco, Eleonora; Capponi, Martina; Loffredo, Lorenzo; Sciannamea, Maddalena; Insalaco, Antonella; Quinti, Isabella; De Benedetti, Fabrizio; Zicari, Anna Maria | |
| 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 | |
| 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 | |
| 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 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 | |
| Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review | 2025 | Mastromoro, Gioia; Guadagnolo, Daniele; De Luca, Alessandro; Ciro Antonio Rongioletti, Mauro; 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 | |
| Functional cvids phenotype clusters identified by the integration of immune parameters after bnt162b2 boosters | 2023 | Piano Mortari, Eva; Pulvirenti, Federica; Marcellini, Valentina; Terreri, Sara; Salinas, Ane Fernandez; Ferrari, Simona; Di Napoli, Giulia; Guadagnolo, Daniele; Sculco, Eleonora; Albano, Christian; Guercio, Marika; Di Cecca, Stefano; Milito, Cinzia; Garzi, Giulia; Pesce, Anna Maria; Bonanni, Livia; Sinibaldi, Matilde; Bordoni, Veronica; Di Cecilia, Serena; Accordini, Silvia; Castilletti, Concetta; Agrati, Chiara; Quintarelli, Concetta; Zaffina, Salvatore; Locatelli, Franco; Carsetti, Rita; Quinti, Isabella | |
| 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. | |
| 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 | |
| Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings | 2021 | Guadagnolo, Daniele; Piane, Maria; Torrisi, Maria Rosaria; Pizzuti, Antonio; Petrucci, Simona | |
| 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 | |
| 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 |