Showing 1 - 20 results of 25 for search 'Antonio Pizzuti', query time: 0.05s 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
    An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

    An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene by Omid Daneshjoo, Leila B. Salehi, Antonio Pizzuti, Giuseppe Novelli, Federica Sangiuolo

    Published 2020-08-01
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  3. 3
    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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  4. 4
    X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

    X-linked dominant RPGR gene mutation in a familial Coats angiomatosis by Marcella Nebbioso, Federica Franzone, Alessandro Lambiase, Maurizio La Cava, Fabiana Mallone, Antonio Pizzuti, Enrica Marchionni

    Published 2021-01-01
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  5. 5
    Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding.

    Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding. by Viviana Caputo, Lorenzo Sinibaldi, Alessia Fiorentino, Chiara Parisi, Caterina Catalanotto, Augusto Pasini, Carlo Cogoni, Antonio Pizzuti

    Published 2011-01-01
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  6. 6
    <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women

    <i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women by Enrica Marchionni, Maria Grazia Porpora, Francesca Megiorni, Ilaria Piacenti, Agnese Giovannetti, Cinzia Marchese, Pierluigi Benedetti Panici, Antonio Pizzuti

    Published 2020-04-01
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  7. 7
    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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  8. 8
    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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  9. 9
    Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

    Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? by Francesco Cava, Caterina Micolonghi, Caterina Micolonghi, Maria Beatrice Musumeci, Simona Petrucci, Camilla Savio, Marco Fabiani, Giacomo Tini, Aldo Germani, Fabio Libi, Carla Rossi, Vincenzo Visco, Antonio Pizzuti, Antonio Pizzuti, Massimo Volpe, Massimo Volpe, Camillo Autore, Speranza Rubattu, Speranza Rubattu, Maria Piane, Maria Piane

    Published 2023-04-01
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  10. 10
    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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  11. 11
    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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  12. 12
    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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  13. 13
    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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  14. 14
    OTX015 Epi-Drug Exerts Antitumor Effects in Ovarian Cancer Cells by Blocking GNL3-Mediated Radioresistance Mechanisms: Cellular, Molecular and Computational Evidence

    OTX015 Epi-Drug Exerts Antitumor Effects in Ovarian Cancer Cells by Blocking GNL3-Mediated Radioresistance Mechanisms: Cellular, Molecular and Computational Evidence by Francesca Megiorni, Simona Camero, Paola Pontecorvi, Lucrezia Camicia, Francesco Marampon, Simona Ceccarelli, Eleni Anastasiadou, Nicola Bernabò, Giorgia Perniola, Antonio Pizzuti, Pierluigi Benedetti Panici, Vincenzo Tombolini, Cinzia Marchese

    Published 2021-03-01
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  15. 15
    Neuroimaging and Cerebrovascular Changes in Fetuses with Complex Congenital Heart Disease

    Neuroimaging and Cerebrovascular Changes in Fetuses with Complex Congenital Heart Disease by Flaminia Vena, Lucia Manganaro, Valentina D’Ambrosio, Luisa Masciullo, Flavia Ventriglia, Giada Ercolani, Camilla Bertolini, Carlo Catalano, Daniele Di Mascio, Elena D’Alberti, Fabrizio Signore, Antonio Pizzuti, Antonella Giancotti

    Published 2022-11-01
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  16. 16
    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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  17. 17
    Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X

    Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X by Paola Pontecorvi, Francesca Megiorni, Simona Camero, Simona Ceccarelli, Laura Bernardini, Anna Capalbo, Eleni Anastasiadou, Giulia Gerini, Elena Messina, Giorgia Perniola, Pierluigi Benedetti Panici, Paola Grammatico, Antonio Pizzuti, Cinzia Marchese

    Published 2021-05-01
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  18. 18
    Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

    Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome by Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola, Pierluigi Benedetti Panici, Antonio Pizzuti, Paola Grammatico, Cinzia Marchese

    Published 2021-01-01
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  19. 19
    Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

    Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients by Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi

    Published 2020-07-01
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  20. 20
    A New <i>SMAD4</i> Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

    A New <i>SMAD4</i> Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome by Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti, Vito Domenico Corleto, Pasquale Parisi, Vincenzo Visco, Giovanni Di Nardo, Simona Petrucci

    Published 2022-11-01
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