Søgeresultater - Ilaria Meloni

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  1. 1
    Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

    Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication af Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Joussef Hayek, Raffaele Rocchi, Michele Zappella, Alessandra Renieri

    Udgivet 2004
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  2. 2
    Preserved speech variant is allelic of classic Rett syndrome

    Preserved speech variant is allelic of classic Rett syndrome af Cristina De Bona, Michele Zappella, Joussef Hayek, Ilaria Meloni, Francesca Vitelli, Mirella Bruttini, Roberto Cusano, Paola Loffredo, Ilaria Longo, Alessandra Renieri

    Udgivet 2000
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  3. 3
    A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

    A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males af Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri

    Udgivet 2000
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  4. 4
    Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice

    Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice af Tommaso Patriarchi, Sonia Amabile, Elisa Frullanti, Elisa Landucci, Caterina Lo Rizzo, Francesca Ariani, Mario Costa, Francesco Olimpico, Johannes Hell, Flora M. Vaccarino, Alessandra Renieri, Ilaria Meloni

    Udgivet 2015
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  5. 5
    iPS cells to model CDKL5-related disorders

    iPS cells to model CDKL5-related disorders af Mariangela Amenduni, Roberta De Filippis, Aaron Cheung, Vittoria Disciglio, Maria Carmela Epistolato, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Joussef Hayek, Alessandra Renieri, James Ellis, Ilaria Meloni

    Udgivet 2011
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  6. 6
    Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder

    Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder af Yunan Gao, Elaine E. Irvine, Ioanna Eleftheriadou, Carlos Jiménez Naranjo, Francesca Hearn-Yeates, Leontien Bosch, Justyna Glegola, Leah Murdoch, Aleksandra Czerniak, Ilaria Meloni, Alessandra Renieri, Maria Kinali, Nicholas D. Mazarakis

    Udgivet 2020
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  7. 7
    Visual impairment in FOXG1-mutated individuals and mice

    Visual impairment in FOXG1-mutated individuals and mice af Elena Boggio, Laura Pancrazi, Mariangela Gennaro, Caterina Lo Rizzo, Francesca Mari, Ilaria Meloni, Francesca Ariani, Anna Panighini, Elena Novelli, Martina Biagioni, Enrica Strettoi, Joussef Hayek, Alessandra Rufa, Tommaso Pizzorusso, Alessandra Renieri, Mario Costa

    Udgivet 2016
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  8. 8
    GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

    GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells af Gabriella Livide, Tommaso Patriarchi, Mariangela Amenduni, Sonia Amabile, Dag H. Yasui, Eleonora Calcagno, Caterina Lo Rizzo, Giulia De Falco, Cristina Ulivieri, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Johannes Hell, Alessandra Renieri, Ilaria Meloni

    Udgivet 2014
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  9. 9
    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome af Francesca Ariani, Joussef Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renieri

    Udgivet 2008
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  10. 10
    Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

    Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome af Cinzia Signorini, Silvia Leoncini, Claudio De Felice, Alessandra Pecorelli, Ilaria Meloni, Francesca Ariani, Francesca Mari, Sonia Amabile, Eugenio Paccagnini, Mariangela Gentile, Giuseppe Belmonte, Gloria Zollo, Giuseppe Valacchi, Thierry Durand, Jean‐Marie Galano, Lucia Ciccoli, Alessandra Renieri, Joussef Hayek

    Udgivet 2014
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  11. 11
    Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

    Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing af Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri

    Udgivet 2013
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  12. 12
    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism af Sara Amitrano, Annabella Marozza, Serena Somma, Valentina Imperatore, Theodora Hadjistilianou, Sonia De Francesco, Paolo Toti, Daniela Galimberti, Ilaria Meloni, Francesco Cetta, Pietro Piu, Chiara Di Marco, Laura Dosa, Caterina Lo Rizzo, Giulia Carignani, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani

    Udgivet 2015
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  13. 13
    COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

    COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome af Ilaria Longo, Paola Porcedda, Francesca Mari, Daniela Giachino, Ilaria Meloni, Carla Deplano, Alfredo Brusco, Maurizio Bosio, Laura Massella, Giancarlo Lavoratti, Dario Roccatello, Giovanni M. Frascà, Gianna Mazzucco, Andrea Onetti Muda, M I Bonanno Conti, F Fasciolo, Christelle Arrondel, Laurence Heidet, Alessandra Renieri, Mario Marchi

    Udgivet 2002
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  14. 14
    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts af Erika Della Mina, A. Borghesi, Hao Zhou, Salim Bougarn, Sabri Boughorbel, Laura Israël, Ilaria Meloni, Maya Chrabieh, Yun Ling, Yuval Itan, Alessandra Renieri, Iolanda Mazzucchelli, Sabrina Basso, Piero Pavone, Raffaele Falsaperla, Roberto Ciccone, Rosa Maria Cerbo, Mauro Stronati, Capucine Pïcard, Orsetta Zuffardi, Laurent Abel, Damien Chaussabel, Nico Marr, Xiaoxia Li, Jean‐Laurent Casanova, Anne Puel

    Udgivet 2017
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  15. 15
    iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

    iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome af Elisa Landucci, Margherita Brindisi, Laura Bianciardi, Lorenza M. Catania, Sergio Daga, Susanna Croci, Elisa Frullanti, Chiara Fallerini, Stefania Butini, Simone Brogi, Simone Furini, Riccardo Melani, Angelo Molinaro, Flaminia Clelia Lorenzetti, Valentina Imperatore, Sonia Amabile, Jessica Mariani, Francesca Mari, Francesca Ariani, Tommaso Pizzorusso, Anna Maria Pinto, Flora M. Vaccarino, Alessandra Renieri, Giuseppe Campiani, Ilaria Meloni

    Udgivet 2018
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  16. 16
    Epilepsy in Rett syndrome—Lessons from the Rett networked database

    Epilepsy in Rett syndrome—Lessons from the Rett networked database af Andreea Nissenkorn, Rachel S. Levy‐Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercédes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi‐Buisson, Bosnjak Vlatka Mejaski, Milena Djurić, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne‐Marie Bisgaard, Béla Melegh, Aglaia Vignoli, Silvia Russo, C. Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben Zeev

    Udgivet 2015
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  17. 17
    Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

    Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research af Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, Floriana Valentino, Gabriella Doddato, Elisa Benetti, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Ilaria Meloni, Anna Maria Pinto, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Nicola Picchiotti, Marco Gori, Pietro Pinoli, Stefano Ceri, Maurizio Sanarico, Francis P. Crawley, Giovanni Birolo, Alessandra Renieri, Francesca Mari, Elisa Frullanti

    Udgivet 2021
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  18. 18
    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study af Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti, Daniela Francisci, Francesco Paciosi, Elisabetta Schiaroli, Margherita Baldassarri, Francesca Fava, Maria Palmieri, Serena Ludovisi, Francesco Castelli, Eugenia Quirós-Roldán, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Laura Di Sarno, Giada Beligni, Andréa Tommasi, Nicola Iuso, Francesca Montagnani, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Elena Bargagli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Davide Romani, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Antonella d’Arminio Monforte, Federica Gaia Miraglia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Arianna Gabrieli, Agostino Riva, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Stefano Baratti, Melania Degli Antoni, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon

    Udgivet 2021
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  19. 19
    Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

    Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients af Stefania Mantovani, Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Elisa Benetti, Nicola Picchiotti, Francesca Fava, Anna Gallì, Silvia Zibellini, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Diana Alaverdian, Katia Capitani, Simone Furini, Francesca Mari, Ilaria Meloni, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Barbara Rossetti, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Alessandro Pancrazzi, Maria Lorubbio, Massimo Vaghi, Antonella d’Arminio Monforte, Federica Gaia Miraglia, Raffaele Bruno, Marco Vecchia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Andrea Tommasi, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quirós-Roldán, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Filippo Aucella

    Udgivet 2021
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  20. 20
    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males af Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Domínguez-Garrido, Laura Planas‐Serra, Agatha Schlüter, Roger Colobrán, Pere Soler‐Palacín, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari, Francesca Montagnani, Laura Di Sarno, Andrea Tommasi, Maria Palmieri, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Fausta Sestini, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Marco Feri, Alice Donati, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Massimo Vaghi, Antonella d’Arminio Monforte, Esther Merlini, Federica Gaia Miraglia, Mario U. Mondelli, Stefania Mantovani, Massimo Girardis, Sophie Venturelli, Marco Sita, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Pier Giorgio Scotton, Francesca Andretta

    Udgivet 2021
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