GUADAGNOLO, DANIELE

GUADAGNOLO, DANIELE  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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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 2022 Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; 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
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
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
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
Prenatal CFAP53-related laterality defect: case report and review of the literature 2023 Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona
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