Search Results - Roberto Ciccone

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  1. 1
    Inverted duplications deletions: underdiagnosed rearrangements??

    Inverted duplications deletions: underdiagnosed rearrangements?? by Orsetta Zuffardi, María Clara Bonaglia, Roberto Ciccone, Roberto Giorda

    Published 2009
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  2. 2
    <i>PRKACB</i> and Carney Complex

    <i>PRKACB</i> and Carney Complex by Antonella Forlino, Annalisa Vetro, Livia Garavelli, Roberto Ciccone, Edra London, Constantine A. Stratakis, Orsetta Zuffardi

    Published 2014
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  3. 3
    XX males SRY negative: a confirmed cause of infertility

    XX males SRY negative: a confirmed cause of infertility by Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Maria Grazia Patricelli, Erika Della Mina, Antonella Forlino, Orsetta Zuffardi

    Published 2011
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  4. 4
    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance by Jill Clayton‐Smith, Sarah Walters, Emma Hobson, Emma Burkitt‐Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi, Dian Donnai

    Published 2008
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  5. 5
    Identification of <i>de novo</i> mutations and rare variants in hypoplastic left heart syndrome

    Identification of <i>de novo</i> mutations and rare variants in hypoplastic left heart syndrome by Maria Iascone, Roberto Ciccone, Lorenzo Galletti, Daniela Marchetti, Francesco Seddio, A R Lincesso, Laura Pezzoli, Annalisa Vetro, D Barachetti, Lorenzo Boni, Duccio Federici, AM Soto, JV Comas, P Ferrazzi, Orsetta Zuffardi

    Published 2011
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  6. 6
    Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

    Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype by María Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, Stefania Gimelli, Susan Marelli, Joanne Verheij, Roberto Giorda, Rita Grasso, Renato Borgatti, Filomena Pagone, Laura Rodríguez, Maria-Luisa Martinez-Frias, Conny van Ravenswaaij, Orsetta Zuffardi

    Published 2008
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  7. 7
    Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

    Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation by Elena Rossi, Mariluce Riegel, Jole Messa, Stefania Gimelli, P Maraschio, Roberto Ciccone, Michela Stroppi, Paola Riva, Concetta Simona Perrotta, Teresa Mattina, L. Memo, Alessandra Baumer, Vaidutis Kučinskas, Claudio Castellan, Albert Schinzel, Orsetta Zuffardi

    Published 2007
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  8. 8
    Guidelines for molecular karyotyping in constitutional genetic diagnosis

    Guidelines for molecular karyotyping in constitutional genetic diagnosis by Joris Vermeesch, Heike Fiegler, Nicole de Leeuw, Károly Szuhai, Jacqueline Schoumans, Roberto Ciccone, Frank Speleman, Anita Rauch, Jill Clayton‐Smith, Conny van Ravenswaaij, Damien Sanlaville, Philippos C. Patsalis, Helen V. Firth, Koenraad Devriendt, Orsetta Zuffardi

    Published 2007
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  9. 9
    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform by Erika Della Mina, Roberto Ciccone, Francesca Brustia, Baran Bayindir, Ivan Limongelli, Annalisa Vetro, Maria Iascone, Laura Pezzoli, Riccardo Bellazzi, Gianfranco Perotti, Valentina De Giorgis, Simona Lunghi, Giangennaro Coppola, Simona Orcesi, Pietro Merli, Salvatore Savasta, Pierangelo Veggiotti, Orsetta Zuffardi

    Published 2014
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  10. 10
    A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

    A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies by Matteo Bovolenta, Marcella Neri, Sergio Fini, M. Fabris, Cecilia Trabanelli, A. Venturoli, E. Martoni, Elena Bassi, Pietro Spitali, Simona Brioschi, Maria Sofia Falzarano, Paola Rimessi, Roberto Ciccone, Emma Ashton, Joanne McCauley, Shu Yau, Stephen Abbs, Francesco Muntoni, Luciano Merlini, Francesca Gualandi, Alessandra Ferlini

    Published 2008
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  11. 11
    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 by Antonio Novelli, Francesca Romana Grati, Lucia Ballarati, Laura Bernardini, Domenico Bizzoco, Lamberto Camurri, Rosario Casalone, L Cardarelli, Pietro Cavalli, Roberto Ciccone, M. Clementi, Leda Dalprà, Mattia Gentile, G Gelli, Paola Grammatico, Michela Malacarne, Anna Maria Nardone, Vanna Pecile, Giuseppe Simoni, Orsetta Zuffardi, Daniela Giardino

    Published 2012
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  12. 12
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment by Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    Published 2010
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  13. 13
    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts by Erika Della Mina, A. Borghesi, Hao Zhou, Salim Bougarn, Sabri Boughorbel, Laura Israël, Ilaria Meloni, Maya Chrabieh, Yun Ling, Yuval Itan, Alessandra Renieri, Iolanda Mazzucchelli, Sabrina Basso, Piero Pavone, Raffaele Falsaperla, Roberto Ciccone, Rosa Maria Cerbo, Mauro Stronati, Capucine Pïcard, Orsetta Zuffardi, Laurent Abel, Damien Chaussabel, Nico Marr, Xiaoxia Li, Jean‐Laurent Casanova, Anne Puel

    Published 2017
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  14. 14
    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures by Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Cátálin Bárbácioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J.L. Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler

    Published 2008
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  15. 15
    The phenotype of recurrent 10q22q23 deletions and duplications

    The phenotype of recurrent 10q22q23 deletions and duplications by Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries

    Published 2011
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  16. 16
    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients by Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi

    Published 2007
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  17. 17
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome by María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    Published 2011
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  18. 18
    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome by David A. Koolen, Andrew J. Sharp, Jane A. Hurst, Helen V. Firth, Samantha J.L. Knight, Alice Goldenberg, Pascale Saugier‐Veber, Rolph Pfundt, Lisenka E.L.M. Vissers, Anne Destrèe, Bernard Grisart, Liesbeth Rooms, Nathalie Van der Aa, Michael Field, Anna Hackett, Katrina M. Bell, M.J.M. Nowaczyk, Grazia M.S. Mancini, Pino J. Poddighe, Charles E. Schwartz, Elena Rossi, Manuela De Gregori, Lucinda Antonacci-Fulton, Michael D. McLellan, J M Garrett, Maddy Wiechert, Tracie L. Miner, Seth D. Crosby, Roberto Ciccone, Lionel Willatt, Anita Rauch, Martin Zenker, Swaroop Aradhya, Melanie A. Manning, Tim M. Strom, Janine Wagenstaller, Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Carla Rosenberg, Sue Price, Helen Stewart, Charles Shaw‐Smith, Han G. Brunner, Andrew O.M. Wilkie, Joris A. Veltman, Orsetta Zuffardi, Evan E. Eichler, Bert B.A. de Vries

    Published 2008
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  19. 19
    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes by A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags, Jill A. Rosenfeld, Joo Wook Ahn, Daniele Merico, Abdul Noor, Cassandra Runke, Vamsee Pillalamarri, M. T. Carter, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone Walentin Laulund, Giovanna Pellecchia, Sylvia Lamoureux, Charu Deshpande, Jill Clayton‐Smith, A. Clinton White, Susan Leather, J Q Trounce, H. Melanie Bedford, Eli Hatchwell, Peggy S. Eis, Ryan K. C. Yuen, Susan Walker, Mohammed Uddin, Michael T. Geraghty, Sarah M. Nikkel, Eva Tomiak, Bridget A. Fernandez, Noam Soreni, Jennifer Crosbie, Paul Arnold, Russell Schachar, Wendy Roberts, Andrew D. Paterson, Jonathan So, Péter Szatmári, Christina Chrysler, Marc Woodbury‐Smith, R. Brian Lowry, Lonnie Zwaigenbaum, D. Mandyam, John Wei, Jeffrey R. MacDonald, Jennifer Howe, Thomas Nalpathamkalam, Z. Wang, Debbie Tolson, Donna Cobb, Timothy Wilks, Merete Juul Sørensen, Patricia I. Bader, Yu An, Bai-Lin Wu, S Musumeci, Corrado Romano, Diana Postorivo, A. Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli, Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch‐Andersen, Marsha Speevak, Marco Fichera, Caroline Mackie Ogilvie, Ya Shen, JM Hodge, Michael E. Talkowski, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    Published 2013
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