Search Results - Franco Stanzial

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  1. 1
    The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

    The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial by Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Straßer, Bernd Wissinger, Susanne Kohl, Eberhart Zrenner

    Published 2017
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  2. 2
    Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome

    Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome by Daniela Gasparotto, Sabrina Rossi, Maurizio Polano, Elena Tamborini, Erica Lorenzetto, Marta Sbaraglia, Alessia Mondello, Marco Massani, Stefano Lamon, R. Bracci, Alessandra Mandolesi, Elisabetta Frate, Franco Stanzial, Jerin Agaj, Guido Mazzoleni, Silvana Pilotti, Alessandro Gronchi, Angelo Paolo Dei Tos, Roberta Maestro

    Published 2016
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  3. 3
    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases by Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi

    Published 2017
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  4. 4
    Characterization of intellectual disability and autism comorbidity through gene panel sequencing

    Characterization of intellectual disability and autism comorbidity through gene panel sequencing by Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet, Susanna Negrin, Isabella Mammi, Donatella Milani, Angela Peron, Stefano Sartori, Irene Toldo, Fiorenza Soli, Licia Turolla, Franco Stanzial, Francesco Benedicenti, Cristina Marino‐Buslje, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi

    Published 2019
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  5. 5
    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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  6. 6
    SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

    SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations by Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria Lisa Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria Felicia Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Silengo, Giovanni Battista Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Published 2011
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  7. 7
    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome by Michael J. B. Krieger, Andreas Roos, Claudia Stendel, Kristl G. Claeys, Fatma Müjgan Sönmez, Michael Baudis, Peter Bauer, Antje Bornemann, Christian de Goede, Andreas Dufke, Richard S. Finkel, Hans H. Goebel, Martin Häussler, Helen Kingston, Janbernd Kirschner, Līvija Medne, Petra Muschke, François Rivier, Sabine Rudnik–Schöneborn, Sabrina Spengler, Francesca Inzana, Franco Stanzial, Francesco Benedicenti, Matthis Synofzik, Ana Lía Taratuto, Laura Pirra, S K Tay, Haluk Topaloğlu, Gökhan Uyanık, Dorothea Wand, Denise Williams, Klaus Zerres, Joachim Weis, Jan Senderek

    Published 2013
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  8. 8
    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia by Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene González-Menéndez, Stanley Chang, Susanne Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam, Mathias W. Seeliger, Franco Stanzial, Francesco Benedicenti, Francesca Inzana, Elise Héon, Ajoy Vincent, Jill Beis, Tim M. Strom, Günther Rudolph, Susanne Roosing, Anneke I. den Hollander, Frans P.M. Cremers, Irma López, Huanan Ren, Anthony T. Moore, Andrew R. Webster, Michel Michaelides, Robert K. Koenekoop, Eberhart Zrenner, Randal J. Kaufman, Stephen H. Tsang, Bernd Wissinger, Jonathan H. Lin

    Published 2015
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  9. 9
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad A. Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Published 2015
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  10. 10
    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study by Angelica D’Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques Lourenço, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Alessandro Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, António Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo M. Santorelli

    Published 2018
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  11. 11
    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia

    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia by Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David G. Birch, Pierre Bitoun, Delphine Blain, Béatrice Bocquet, Kari Branham, Jaume Catalá‐Mora, Elfride De Baere, Hélène Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irène Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Webb-Jones, Herbert Jägle, Andreas Janecke, Ulrich Kellner, Petra Lišková, Birgit Lorenz, Loreto Martorell, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy de Ravel, Charlotte Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, R. Salati, Emin Cumhur Şener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsányi, Richard G. Weleber, Ditta Zobor, Katarína Štingl, Bernd Wissinger, Susanne Kohl

    Published 2022
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