检索结果 - Francesca Ariani

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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 由 Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Joussef Hayek, Raffaele Rocchi, Michele Zappella, Alessandra Renieri

    出版 2004
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  2. 2
    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 由 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

    出版 2015
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  3. 3
    iPS cells to model CDKL5-related disorders

    iPS cells to model CDKL5-related disorders 由 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

    出版 2011
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  4. 4
    Advances in Alport syndrome diagnosis using next-generation sequencing

    Advances in Alport syndrome diagnosis using next-generation sequencing 由 Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi, Guido Garosi, Laura Massella, Maria Carmela Epistolato, Roberta Mancini, Francesca Mari, Ilaria Longo, Francesca Ariani, Alessandra Renieri, Mirella Bruttini

    出版 2011
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  5. 5
    Visual impairment in FOXG1-mutated individuals and mice

    Visual impairment in FOXG1-mutated individuals and mice 由 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

    出版 2016
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  6. 6
    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 由 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

    出版 2014
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  7. 7
    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome 由 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

    出版 2008
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  8. 8
    Alport syndrome: impact of digenic inheritance in patients management

    Alport syndrome: impact of digenic inheritance in patients management 由 Chiara Fallerini, Margherita Baldassarri, Eva Trevisson, Valeria Morbidoni, Angela La Manna, Roberta Lazzarin, Andrea Pasini, G Barbano, Angela Rosa Pinciaroli, Guido Garosi, Elisa Frullanti, Anna Maria Pinto, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani

    出版 2016
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  9. 9
    Expert consensus guidelines for the genetic diagnosis of Alport syndrome

    Expert consensus guidelines for the genetic diagnosis of Alport syndrome 由 Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Oliver Groß, Constantinos Deltas, Frances Flinter, Jie Ding, Daniel P. Gale, Mato Nagel, Michael Yau, Lev Shagam, Roser Torrá, Elisabet Ars, Julia Hoefele, Guido Garosi, Helen Storey

    出版 2018
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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 由 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

    出版 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 由 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

    出版 2013
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  12. 12
    CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

    CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 由 Francesca Mari, Sara Azimonti, Ilaria Bertani, Fabrizio Bolognese, Elena Colombo, Rossella Caselli, Elisa Scala, Ilaria Longo, Salvatore Grosso, Chiara Pescucci, Francesca Ariani, Joussef Hayek, Paolo Balestri, Anna Bergo, Gianfranco Badaracco, Michele Zappella, Vania Broccoli, Alessandra Renieri, Charlotte Kilstrup‐Nielsen, Nicoletta Landsberger

    出版 2005
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  13. 13
    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 由 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

    出版 2015
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  14. 14
    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome 由 Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso, Dalila Rondinella, Roberta De Filippis, Nadia Bahi‐Buisson, Juliette Nectoux, R. Rubinsztajn, Thierry Bienvenu, A. Moncla, B. Chabrol, Laurent Villard, Zita Krūmiņa, Judith Armstrong, Ana Roche, M. Pineda, Eva Gak, Francesca Mari, Francesca Ariani, Alessandra Renieri

    出版 2009
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  15. 15
    Evidence of digenic inheritance in Alport syndrome

    Evidence of digenic inheritance in Alport syndrome 由 Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A. Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, H.J.M. Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri

    出版 2015
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  16. 16
    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 由 Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina S. Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

    出版 2021
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  17. 17
    DNA Methylation in the Diagnosis of Monogenic Diseases

    DNA Methylation in the Diagnosis of Monogenic Diseases 由 Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia Maria Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio

    出版 2020
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  18. 18
    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 由 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

    出版 2018
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  19. 19
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 由 Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    出版 2012
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  20. 20
    Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

    Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 由 Oliver Groß, Clifford E. Kashtan, Michelle N. Rheault, Frances Flinter, Judy Savige, Jeffrey H. Miner, Roser Torrá, Elisabet Ars, Constantinos Deltas, Isavella Savva, Laura Perin, Alessandra Renieri, Francesca Ariani, Francesca Mari, Colin Baigent, Parminder K. Judge, B. Knebelman, Laurence Heidet, Sharon Lagas, Dave Blatt, Jie Ding, Yanqin Zhang, Daniel P. Gale, Marco Prunotto, Yong Xue, Asher D. Schachter, Lori C.G. Morton, Jacqui Blem, Michael Huang, Shiguang Liu, Sébastien Vallée, Daniel Renault, Julia Schifter, Jules Skelding, Susie Gear, Tim Friede, Neil Turner, Rachel Lennon

    出版 2016
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