Výsledky vyhledávání - Francesca Mari

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

    Vydáno 2004
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  2. 2
    The Genetic Analysis and Clinical Therapy in Lung Cancer: Current Advances and Future Directions

    The Genetic Analysis and Clinical Therapy in Lung Cancer: Current Advances and Future Directions Autor Angela Rina, Debora Maffeo, Francesca Minnai, Martina Esposito, Maria Palmieri, Viola Bianca Serio, Diletta Rosati, Francesca Mari, Elisa Frullanti, Francesca Colombo

    Vydáno 2024
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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 Autor Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri

    Vydáno 2000
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  4. 4
    Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

    Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene Autor Chiara Pescucci, Francesca Mari, Ilaria Longo, Paraskevi Vogiatzi, Rossella Caselli, Elisa Scala, Cataldo Abaterusso, R Gusmano, Marco Seri, Nunzia Miglietti, Elena Bresin, Alessandra Renieri

    Vydáno 2004
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  5. 5
    Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women

    Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Autor Maria Monticelli, Bruno Hay Mele, Elisa Benetti, Chiara Fallerini, Margherita Baldassarri, Simone Furini, Elisa Frullanti, Francesca Mari, Giuseppina Andreotti, Maria Vittoria Cubellis, Alessandra Renieri

    Vydáno 2021
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  6. 6
    iPS cells to model CDKL5-related disorders

    iPS cells to model CDKL5-related disorders Autor 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

    Vydáno 2011
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  7. 7
    Advances in Alport syndrome diagnosis using next-generation sequencing

    Advances in Alport syndrome diagnosis using next-generation sequencing Autor 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

    Vydáno 2011
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  8. 8
    Visual impairment in FOXG1-mutated individuals and mice

    Visual impairment in FOXG1-mutated individuals and mice Autor 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

    Vydáno 2016
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  9. 9
    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 Autor 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

    Vydáno 2014
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  10. 10
    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome Autor 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

    Vydáno 2008
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  11. 11
    Alport syndrome: impact of digenic inheritance in patients management

    Alport syndrome: impact of digenic inheritance in patients management Autor 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

    Vydáno 2016
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  12. 12
    Expert consensus guidelines for the genetic diagnosis of Alport syndrome

    Expert consensus guidelines for the genetic diagnosis of Alport syndrome Autor 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

    Vydáno 2018
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  13. 13
    Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

    Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome Autor 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

    Vydáno 2014
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  14. 14
    Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

    Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing Autor 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

    Vydáno 2013
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  15. 15
    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 Autor 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

    Vydáno 2005
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  16. 16
    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism Autor 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

    Vydáno 2015
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  17. 17
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect Autor Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    Vydáno 2020
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  18. 18
    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 Autor 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

    Vydáno 2002
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  19. 19
    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome Autor 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

    Vydáno 2009
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  20. 20
    Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

    Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies Autor Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, Clara Malattia, Andrea Pilotto, Emanuele Porcu, Eliana Disabella, Nicola Marziliano, Angela Pisani, Luca Lanzarini, Savina Mannarino, Daniela Larizza, Mario Mosconi, Elena Antoniazzi, M. C. Zoia, Giulia Meloni, Lorenzo Magrassi, Agnese Brega, Maria Francesca Bedeschi, Isabella Torrente, Francesca Mari, Luigi Tavazzi

    Vydáno 2005
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