Search Results - Stefano Duga

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  1. 1
    Editorial: RNA Splicing and Backsplicing: Disease and Therapy

    Editorial: RNA Splicing and Backsplicing: Disease and Therapy by Rosanna Asselta, Rosanna Asselta, Stefano Duga, Stefano Duga, Eladio Andrés Velasco, Eladio Andrés Velasco, Emanuele Buratti

    Published 2020-12-01
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  2. 2
    Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

    Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions by Elvezia Maria Paraboschi, Giulia Cardamone, Giulia Soldà, Giulia Soldà, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta

    Published 2018-12-01
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  3. 3
    Hereditary Hypofibrinogenemia with Hepatic Storage

    Hereditary Hypofibrinogenemia with Hepatic Storage by Rosanna Asselta, Elvezia Maria Paraboschi, Stefano Duga

    Published 2020-10-01
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  4. 4
    Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

    Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains by Elvezia Maria Paraboschi, Stefano Duga, Rosanna Asselta

    Published 2017-12-01
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  5. 5
    First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

    First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features by Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Giulia Soldà, Melissa Bellini, Giacomo Biasucci, Rosanna Asselta, Rosanna Asselta, Stefano Duga, Stefano Duga

    Published 2018-10-01
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  6. 6
    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa by Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta, Giulia Soldà, Giulia Soldà

    Published 2021-02-01
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  7. 7
    Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

    Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency by Elvezia Maria Paraboschi, Marzia Menegatti, Flora Peyvandi, Stefano Duga, Rosanna Asselta

    Published 2019-02-01
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  8. 8
    The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

    The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis by Giulia Cardamone, Elvezia Maria Paraboschi, Valeria Rimoldi, Stefano Duga, Giulia Soldà, Rosanna Asselta

    Published 2017-03-01
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  9. 9
    Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations

    Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations by Giancarlo Castaman, Sofia H. Giacomelli, Alfredo Dragani, Ornella Iuliani, Stefano Duga, Francesco Rodeghiero

    Published 2008-06-01
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  10. 10
    Genetic Association and Altered Gene Expression of <i>CYBB</i> in Multiple Sclerosis Patients

    Genetic Association and Altered Gene Expression of <i>CYBB</i> in Multiple Sclerosis Patients by Giulia Cardamone, Elvezia Maria Paraboschi, Giulia Soldà, Stefano Duga, Janna Saarela, Rosanna Asselta

    Published 2018-12-01
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  11. 11
    Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.

    Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript. by Valeria Rimoldi, Giulia Soldà, Rosanna Asselta, Silvia Spena, Cristiana Stuani, Emanuele Buratti, Stefano Duga

    Published 2013-01-01
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  12. 12
    Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

    Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor... by Giorgia Zadra, Rosanna Asselta, Maria Luisa Tenchini, Giancarlo Castaman, Uri Seligsohn, Pier Mannuccio Mannucci, Stefano Duga

    Published 2008-05-01
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  13. 13
    Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes

    Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes by Elvezia Maria Paraboschi, Giulia Cardamone, Valeria Rimoldi, Donato Gemmati, Marta Spreafico, Stefano Duga, Giulia Soldà, Rosanna Asselta

    Published 2015-09-01
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  14. 14
    Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

    Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. by Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà

    Published 2017-01-01
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  15. 15
    Profiling the mutational landscape of coagulation factor V deficiency

    Profiling the mutational landscape of coagulation factor V deficiency by Elvezia Maria Paraboschi, Marzia Menegatti, Valeria Rimoldi, Munira Borhany, Magy Abdelwahab, Donato Gemmati, Flora Peyvandi, Stefano Duga, Rosanna Asselta

    Published 2020-04-01
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  16. 16
    Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

    Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay by Manuela Platè, Stefano Duga, Luciano Baronciani, Silvia La Marca, Valentina Rubini, Pier Mannuccio Mannucci, Augusto B. Federici, Rosanna Asselta

    Published 2010-01-01
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  17. 17
    Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

    Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population by Ilaria Guella, Rosanna Asselta, Diego Ardissino, Pier Angelica Merlini, Flora Peyvandi, Sekar Kathiresan, Pier Mannuccio Mannucci, Marco Tubaro, Stefano Duga

    Published 2010-11-01
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  18. 18
    Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature

    Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature by Rosanna Asselta, Luca Di Tommaso, Matteo Perrino, Annarita Destro, Laura Giordano, Giulia Cardamone, Luca Rubino, Armando Santoro, Stefano Duga, Paolo Andrea Zucali

    Published 2021-05-01
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  19. 19
    Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology

    Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology by Marinella Corbetta, Chiara Chiereghin, Ilaria De Simone, Ilaria De Simone, Giulia Soldà, Giulia Soldà, Monica Zuradelli, Monica Zuradelli, Michele Giunta, Giovanni Lughezzani, Giovanni Lughezzani, Nicolò Maria Buffi, Nicolò Maria Buffi, Rodolfo Hurle, Alberto Saita, Paolo Casale, Rosanna Asselta, Rosanna Asselta, Massimo Lazzeri, Giorgio Guazzoni, Giorgio Guazzoni, Stefano Duga, Stefano Duga

    Published 2021-05-01
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  20. 20
    Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients

    Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients by Rosanna Asselta, Nadia Barizzone, Maurizio Leone, Alessandro Salviati, Giulia Zeri, Maria Donata Benedetti, Donato Gemmati, Elisa Orioli, Elvezia Maria Paraboschi, Stefano Duga, Giulia Soldà

    Published 2011-12-01
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