Search Results - Claudio Carta

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  1. 1
    Complete Sequence of the IncT-Type Plasmid pT-OXA-181 Carrying the <i>bla</i> <sub>OXA-181</sub> Carbapenemase Gene from Citrobacter freundii

    Complete Sequence of the IncT-Type Plasmid pT-OXA-181 Carrying the <i>bla</i> <sub>OXA-181</sub> Carbapenemase Gene from Citrobacter freundii by Laura Villa, Alessandra Carattoli, Patrice Nordmann, Claudio Carta, Laurent Poirel

    Published 2013
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  2. 2
    Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes

    Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes by Laura Villa, Laurent Poirel, Patrice Nordmann, Claudio Carta, Alessandra Carattoli

    Published 2012
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  3. 3
    Klebsiella pneumoniae ST258 Producing KPC-3 Identified in Italy Carries Novel Plasmids and OmpK36/OmpK35 Porin Variants

    Klebsiella pneumoniae ST258 Producing KPC-3 Identified in Italy Carries Novel Plasmids and OmpK36/OmpK35 Porin Variants by Aurora García-Fernández, Laura Villa, Claudio Carta, Carolina Venditti, Alessandra Giordano, Mario Venditti, Carlo Mancini, Alessandra Carattoli

    Published 2012
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  4. 4
    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype by Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sárközy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Published 2006
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  5. 5
    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations by Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, Claudio Carta, Francesca Romana Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, M. Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola

    Published 2009
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  6. 6
    Somatic <i>PTPN11</i> mutations in childhood acute myeloid leukaemia

    Somatic <i>PTPN11</i> mutations in childhood acute myeloid leukaemia by Marco Tartaglia, Simone Martinelli, Ivano Iavarone, Giovanni Cazzaniga, Mônica Glória Neumann Spínelli, Emanuela Giarin, Valentina Petrangeli, Claudio Carta, Riccardo Masetti, Maurizio Aricò, Franco Locatelli, Giuseppe Basso, M Sorcini, Andrea Pession, Andrea Biondi

    Published 2005
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  7. 7
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome by Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

    Published 2005
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  8. 8
    A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

    A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome by Viviana Caputo, L Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, E. Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Fabia Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

    Published 2012
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  9. 9
    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome by Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia

    Published 2006
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  10. 10
    The RD-Connect Registry &amp; Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

    The RD-Connect Registry &amp; Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers by Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, Robert Reihs, Heimo Mueller, Emma Heslop, Marco Roos, Dorota M. Badowska, Federico de Paulis, Yllka Kodra, Claudio Carta, Estrella López‐Martín, Vanessa Rangel Miller, Mirella Filocamo, Marina Mora, Mark Thompson, Yaffa Rubinstein, Manuel Posada de la Paz, Lucía Monaco, Hanns Lochmüller, Domenica Taruscio

    Published 2018
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  11. 11
    Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

    Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer by Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke van der Horst, Pedro Lopes, Rajaram Kaliyaperumal, Mark Thompson, Rachel Thompson, Núria Queralt-Rosiñach, Estrella López‐Martín, Libby Wood, Agata Robertson, Claudia Lamanna, Mette Gilling, Michael Orth, Roxana Merino-Martinez, Manuel Posada de la Paz, Domenica Taruscio, Hanns Lochmüller, Peter N. Robinson, Marco Roos, José Luís Oliveira

    Published 2017
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  12. 12
    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome by Marco Tartaglia, L Pennacchio, Chen Zhao, Kamlesh Yadav, Valentina Fodale, Anna Sárközy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Romana Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J. Curry, Juan Pedro López Siguero, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar‐Sagi, Bruce D. Gelb

    Published 2006
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  13. 13
    Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

    Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum by Anna Sárközy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, M. Cristina Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Romana Lepri, Valentina Petrangeli, Maria Lisa Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni Battista Ferrero, Margherita Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia

    Published 2009
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  14. 14
    Recommendations for Improving the Quality of Rare Disease Registries

    Recommendations for Improving the Quality of Rare Disease Registries by Yllka Kodra, Jérôme Weinbach, Manuel Posada de la Paz, Alessio Coi, Sophie Lemonnier, David van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, S Faisal Ahmed, Virginie Bros‐Facer, Veronica Popa, Marieke van Meel, Daniel Renault, Rainald von Gizycki, Michele Santoro, Paul Landais, Paola Torreri, Claudio Carta, Deborah Mascalzoni, Sabina Gainotti, Estrella López‐Martín, Anna Ambrosini, Heimo Müller, Robert I. Reis, Fabrizio Bianchi, Yaffa Rubinstein, Hanns Lochmüller, Domenica Taruscio

    Published 2018
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  15. 15
    A restricted spectrum of NRAS mutations causes Noonan syndrome

    A restricted spectrum of NRAS mutations causes Noonan syndrome by Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský, Lothar Gremer, Claudio Carta, Denise Horn, Amy E. Roberts, Francesca Romana Lepri, Torsten Merbitz-Zahradnik, Rainer König, Christian P. Kratz, Francesca Pantaleoni, Maria Lisa Dentici, Victoria A. Joshi, Raju Kucherlapati, Laura Mazzanti, Stefan Mundlos, Michael A. Patton, Margherita Silengo, Cesare Rossi, Giuseppe Zampino, Cristina Digilio, Liborio Stuppia, E Seemanová, L Pennacchio, Bruce D. Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker

    Published 2009
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  16. 16
    Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

    Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International by Domenica Taruscio, Marco Salvatore, Aimé Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz

    Published 2023
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  17. 17
    A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

    A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions by Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Karaman Pagava, Ratna Dua Puri, Victor Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz, Domenica Taruscio

    Published 2025
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