Showing 1 - 10 results of 10 for search 'Daniele Guadagnolo', query time: 0.04s Refine Results
  1. 1
    Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review

    Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review by Daniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, Antonio Pizzuti, Enrica Marchionni

    Published 2021-02-01
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  2. 2
    Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

    Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis by Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa, Antonio Pizzuti

    Published 2022-02-01
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  3. 3
    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

    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... by Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti

    Published 2022-12-01
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  4. 4
    Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

    Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis by Gioia Mastromoro, Nader Khaleghi Hashemian, Daniele Guadagnolo, Maria Grazia Giuffrida, Barbara Torres, Laura Bernardini, Flavia Ventriglia, Gerardo Piacentini, Antonio Pizzuti

    Published 2022-05-01
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  5. 5
    Genomic Breakpoints’ Characterization of a Large <i>CHEK2</i> Duplication in an Italian Family with Hereditary Breast Cancer

    Genomic Breakpoints’ Characterization of a Large <i>CHEK2</i> Duplication in an Italian Family with Hereditary Breast Cancer by Aldo Germani, Daniele Guadagnolo, Valentina Salvati, Caterina Micolonghi, Rita Mancini, Gioia Mastromoro, Soha Sadeghi, Simona Petrucci, Antonio Pizzuti, Maria Piane

    Published 2022-06-01
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  6. 6
    Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

    Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region by Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti

    Published 2023-11-01
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  7. 7
    Heterozygous Pathogenic Nonsense Variant in the <i>ATM</i> Gene in a Family with Unusually High Gastric Cancer Susceptibility

    Heterozygous Pathogenic Nonsense Variant in the <i>ATM</i> Gene in a Family with Unusually High Gastric Cancer Susceptibility by Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti

    Published 2023-07-01
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  8. 8
    Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

    Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation by Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti

    Published 2020-01-01
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  9. 9
    Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?

    Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals? by Federica Pulvirenti, Bianca Laura Cinicola, Bianca Laura Cinicola, Simona Ferrari, Daniele Guadagnolo, Eleonora Sculco, Martina Capponi, Lorenzo Loffredo, Maddalena Sciannamea, Antonella Insalaco, Isabella Quinti, Isabella Quinti, Fabrizio De Benedetti, Anna Maria Zicari

    Published 2023-05-01
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  10. 10
    Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters

    Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters by Eva Piano Mortari, Eva Piano Mortari, Federica Pulvirenti, Valentina Marcellini, Sara Terreri, Ane Fernandez Salinas, Simona Ferrari, Giulia Di Napoli, Daniele Guadagnolo, Eleonora Sculco, Christian Albano, Marika Guercio, Stefano Di Cecca, Cinzia Milito, Giulia Garzi, Anna Maria Pesce, Livia Bonanni, Matilde Sinibaldi, Veronica Bordoni, Serena Di Cecilia, Silvia Accordini, Concetta Castilletti, Chiara Agrati, Concetta Quintarelli, Salvatore Zaffina, Franco Locatelli, Franco Locatelli, Rita Carsetti, Isabella Quinti

    Published 2023-05-01
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