Showing 1 - 15 results of 15 for search 'Fiorella Gurrieri', query time: 0.04s Refine Results
  1. 1
    Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results

    Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype R... by Carla Lintas, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Fiorella Gurrieri

    Published 2021-10-01
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  2. 2
    Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 <i>locus</i> Associated with Variable Expressivity of Neuropsychiatric Disorders

    Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 <i>locus</i> Associated with Variable Expressivity of Neuropsychiatric Disorders by Carla Lintas, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Luigi Laino, Paola Grammatico, Fiorella Gurrieri

    Published 2022-09-01
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  3. 3
    <i>RADX</i> Gene Variant May Predispose to Familial Asperger Syndrome

    <i>RADX</i> Gene Variant May Predispose to Familial Asperger Syndrome by Alessia Azzarà, Roberto Rumore, Fulvia Brugnoletti, Elisabetta Tabolacci, Irene Bottillo, Eugenio Sangiorgi, Fiorella Gurrieri

    Published 2023-01-01
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  4. 4
    Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

    Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability by Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso, Fiorella Gurrieri

    Published 2023-06-01
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  5. 5
    A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

    A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? by Irene Bottillo, Luigi Laino, Alessia Azzarà, Carla Lintas, Ilaria Cassano, Vincenzo Di Lazzaro, Vincenzo Di Lazzaro, Francesca Ursini, Francesco Motolese, Francesco Motolese, Simone Bargiacchi, Daniela Formicola, Paola Grammatico, Fiorella Gurrieri, Fiorella Gurrieri

    Published 2024-01-01
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  6. 6
    Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants?

    Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with <i>SCN1A</i> Variants? by Alessia Azzarà, Ilaria Cassano, Carla Lintas, Fabio Pilato, Fioravante Capone, Vincenzo Di Lazzaro, Fiorella Gurrieri

    Published 2023-07-01
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  7. 7
    Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study

    Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study by Alessia Azzarà, Laura Risi Ambrogioni, Ilaria Cassano, Carla Lintas, Umile Giuseppe Longo, Vincenzo Denaro, Fiorella Gurrieri

    Published 2022-10-01
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  8. 8
    Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

    Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis by Viola D’Ambrosio, Alessia Azzarà, Eugenio Sangiorgi, Fiorella Gurrieri, Bernhard Hess, Giovanni Gambaro, Pietro Manuel Ferraro

    Published 2021-06-01
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  9. 9
    Expanding the Spectrum of <i>KDM5C</i> Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

    Expanding the Spectrum of <i>KDM5C</i> Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations by Carla Lintas, Irene Bottillo, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Maria Pia Ciccone, Paola Grammatico, Fiorella Gurrieri

    Published 2022-12-01
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  10. 10
    Simultaneous presence of Brugada and overgrowth syndromes

    Simultaneous presence of Brugada and overgrowth syndromes by Andrea Segreti, Francesco Piccirillo, Simone Pasquale Crispino, Francesca Cocchia, Arianna Martucciello, Vito Calabrese, Fiorella Gurrieri, Francesco Grigioni

    Published 2023-04-01
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  11. 11
    Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders

    Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders by Carla Lintas, Ilaria Cassano, Alessia Azzarà, Maria Grazia Stigliano, Chiara Gregorj, Roberto Sacco, Andrea Stoccoro, Fabio Coppedè, Fiorella Gurrieri

    Published 2023-02-01
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  12. 12
    Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families

    Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families by Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri

    Published 2022-01-01
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  13. 13
    Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers

    Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers by Eugenio Sangiorgi, Alessia Azzarà, Roberto Rumore, Ilaria Cassano, Elena Verrecchia, Luciano Giacò, Maria Alessandra Tullio, Fiorella Gurrieri, Raffaele Manna

    Published 2023-06-01
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  14. 14
    Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

    Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families. by Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri

    Published 2022-01-01
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  15. 15
    Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis

    Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis by Valeria Cammalleri, Valeria Maria De Luca, Giorgio Antonelli, Ombretta Annibali, Annunziata Nusca, Simona Mega, Myriam Carpenito, Danilo Ricciardi, Fiorella Gurrieri, Giuseppe Avvisati, Gian Paolo Ussia, Francesco Grigioni

    Published 2022-10-01
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