Showing 1 - 13 results of 13 for search 'Nicoletta Resta', query time: 0.04s Refine Results
  1. 1
    Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

    Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay by Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazzà, Cristiano Simone, Nicoletta Resta

    Published 2019-08-01
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  2. 2
    A Rare Case of Severe Congenital RYR1-Associated Myopathy

    A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

    Published 2018-01-01
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  3. 3
    Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

    Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome by Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova

    Published 2021-02-01
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  4. 4
    Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

    Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? by Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte, Simona Boito, Luca Caschera, Laura Bassi, Lorenzo Colombo, Maria Iascone, Maria Francesca Bedeschi

    Published 2022-08-01
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  5. 5
    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i... by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic

    Published 2020-05-01
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  6. 6
    Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A

    Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A by Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo

    Published 2023-07-01
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  7. 7
    Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

    Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy. by Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale

    Published 2015-01-01
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  8. 8
    Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023), 1187–1189]

    Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023), 1187–1189] by Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone

    Published 2024-03-01
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  9. 9
    Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes

    Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes by Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone

    Published 2023-07-01
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  10. 10
    DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient

    DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient by Simona Ruggieri, Luigi Viggiano, Tiziana Annese, Carmela Rubolino, Andrea Gerbino, Roberta De Zio, Patrizia Corsi, Roberto Tamma, Domenico Ribatti, Mariella Errede, Francesca Operto, Lucia Margari, Nicoletta Resta, Silvia Di Tommaso, Jessica Rosati, Maria Trojano, Beatrice Nico

    Published 2019-01-01
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  11. 11
    Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

    Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sen... by Daria C Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta

    Published 2015-01-01
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  12. 12
    A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment

    A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment by Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, Roberta Onesimo, Alessandro Cina, Marco Panfili, Lucrezia Perri, Cristiana Agazzi, Valentina Giorgio, Donato Rigante, Giovanni Vento, Patrizia Papacci, Filomena Valentina Paradiso, Sara Silvaroli, Lorenzo Nanni, Nicoletta Resta, Marco Castori, Jacopo Galli, Gaetano Paludetti, Giuseppe Zampino, Chiara Leoni

    Published 2024-07-01
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  13. 13
    Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience

    Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience by Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean-Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci

    Published 2024-06-01
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