Resultados de búsqueda - Giacopuzzi, Edoardo

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  1. 1
    Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies

    Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies por Damiati, E., Borsani, G., Giacopuzzi, Edoardo

    Publicado 2016
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  2. 2
    GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

    GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data por Giacopuzzi, Edoardo, Popitsch, Niko, Taylor, Jenny C

    Publicado 2022
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  3. 3
    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders por Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol

    Publicado 2021
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  4. 4
    New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa

    New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa por Giacopuzzi, Edoardo, Bresciani, Roberto, Schauer, Roland, Monti, Eugenio, Borsani, Giuseppe

    Publicado 2012
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  5. 5
    The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia

    The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia por Maj, Carlo, Minelli, Alessandra, Giacopuzzi, Edoardo, Sacchetti, Emilio, Gennarelli, Massimo

    Publicado 2016
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  6. 6
    Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

    Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes por Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Venturini, Marina, Chiarelli, Nicola, Colombi, Marina

    Publicado 2019
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  7. 7
    Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles

    Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles por Magri, Chiara, Giacopuzzi, Edoardo, Sacco, Chiara, Bocchio-Chiavetto, Luisella, Minelli, Alessandra, Gennarelli, Massimo

    Publicado 2021
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  8. 8
    Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops

    Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops por Giacopuzzi, Edoardo, Barlati, Sergio, Preti, Augusto, Venerando, Bruno, Monti, Eugenio, Borsani, Giuseppe, Bresciani, Roberto

    Publicado 2011
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  9. 9
    slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish

    slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish por Benini, Anna, Cignarella, Francesca, Calvarini, Laura, Mantovanelli, Silvia, Giacopuzzi, Edoardo, Zizioli, Daniela, Borsani, Giuseppe

    Publicado 2015
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  10. 10
    Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables

    Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variab... por Giacopuzzi, Edoardo, Gennarelli, Massimo, Sacco, Chiara, Filippini, Alice, Mingardi, Jessica, Magri, Chiara, Barbon, Alessandro

    Publicado 2018
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  11. 11
    In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization

    In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization por Bonardi, Dario, Ravasio, Viola, Borsani, Giuseppe, d'Azzo, Alessandra, Bresciani, Roberto, Monti, Eugenio, Giacopuzzi, Edoardo

    Publicado 2014
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  12. 12
    Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain

    Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain por Filippini, Alice, Bonini, Daniela, Giacopuzzi, Edoardo, La Via, Luca, Gangemi, Fabrizio, Colombi, Marina, Barbon, Alessandro

    Publicado 2018
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  13. 13
    Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates

    Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates por Vita, Antonio, Minelli, Alessandra, Barlati, Stefano, Deste, Giacomo, Giacopuzzi, Edoardo, Valsecchi, Paolo, Turrina, Cesare, Gennarelli, Massimo

    Publicado 2019
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  14. 14
    Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

    Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis por Salvi, Alessandro, Giacopuzzi, Edoardo, Bardellini, Elena, Amadori, Francesca, Ferrari, Lia, De Petro, Giuseppina, Borsani, Giuseppe, Majorana, Alessandra

    Publicado 2016
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  15. 15
    Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS)

    Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS) por Magri, Chiara, Vitali, Erika, Cocco, Sara, Giacopuzzi, Edoardo, Rinaudo, Marco, Martini, Paolo, Barbon, Alessandro, Grassi, Claudio, Gennarelli, Massimo

    Publicado 2021
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  16. 16
    Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

    Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways por Giacopuzzi, Edoardo, Gennarelli, Massimo, Minelli, Alessandra, Gardella, Rita, Valsecchi, Paolo, Traversa, Michele, Bonvicini, Cristian, Vita, Antonio, Sacchetti, Emilio, Magri, Chiara

    Publicado 2017
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  17. 17
    Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α

    Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α por Rossini, Elisa, Giacopuzzi, Edoardo, Gangemi, Fabrizio, Tamburello, Mariangela, Cosentini, Deborah, Abate, Andrea, Laganà, Marta, Berruti, Alfredo, Grisanti, Salvatore, Sigala, Sandra

    Publicado 2021
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  18. 18
    The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

    The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing por Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V

    Publicado 2022
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  19. 19
    A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

    A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme por Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo

    Publicado 2018
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  20. 20
    Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

    Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme por Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo

    Publicado 2020
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