Showing 1 - 10 results of 10 for search 'Gioia Mastromoro', query time: 0.02s 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
    Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

    Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants by Lorenzo Perilli, Gioia Mastromoro, Manuel Murciano, Manuel Murciano, Ilaria Amedeo, Federica Avenoso, Antonio Pizzuti, Cristiana Alessia Guido, Alberto Spalice

    Published 2022-02-01
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer’s Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an <em>RGS7</em> Stop-Loss Variant

    Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer’s Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an <em>RGS7</em> Stop-Los... by 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

    Published 2023-03-01
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  10. 10
    Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

    Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. by Gioia Mastromoro, Giulio Calcagni, Paolo Versacci, Carolina Putotto, Marcello Chinali, Caterina Lambiase, Marta Unolt, Elena Pelliccione, Silvia Anaclerio, Cinzia Caprio, Sara Cioffi, Marchesa Bilio, Anwar Baban, Fabrizio Drago, Maria Cristina Digilio, Bruno Marino, Antonio Baldini

    Published 2019-01-01
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