Search Results - Francesca Faravelli

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  1. 1
    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 by Marcella Zollino, Rosetta Lecce, Rita Fischetto, Marina Murdolo, Francesca Faravelli, Angelo Selicorni, Cinzia Buttè, Luigi Memo, Giuseppe Capovilla, Giovanni Neri

    Published 2003
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  2. 2
    Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

    Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management by Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty

    Published 2018
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  3. 3
    Craniofacial characteristics of fragile X syndrome in mouse and man

    Craniofacial characteristics of fragile X syndrome in mouse and man by Inge Heulens, Michael Suttie, Andrei Postnov, Nora De Clerck, Concetta Simona Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, R. Frank Kooy, Peter Hammond

    Published 2012
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  4. 4
    Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

    Prevalence and determinants of preconception folic acid use: an Italian multicenter survey by Roy M. Nilsen, Emanuele Leoncini, Paolo Gastaldi, Valentina Allegri, Rocco Agostino, Francesca Faravelli, Federica Ferrazzoli, Enrico Finale, Paolo Ghirri, Gioacchino Scarano, Pierpaolo Mastroiacovo

    Published 2016
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  5. 5
    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome by Peter Hammond, Femke Hannes, Michael Suttie, Koenraad Devriendt, Joris Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steven Williams, Dominic McMullan, Sarah T. South, John C. Carey, Oliver Quarrell

    Published 2011
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  6. 6
    BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

    BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus by Sandrine Levet, Marie Ouarné, Delphine Ciais, Charles Coutton, Mariela Subileau, Christine Mallet, Nicolas Ricard, Marie Bidart, Thierry Debillon, Francesca Faravelli, Caroline Rooryck, Jean‐Jacques Feige, Emmanuelle Tillet, Sabine Bailly

    Published 2015
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  7. 7
    Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

    Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations by Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valérie Cormier‐Daire, Alexandre Irrthum, Nazneen Rahman

    Published 2005
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  8. 8
    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients by Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria Teresa Divizia, Maria Luisa Giovannucci Uzielli, Giovanni Neri, Maria Francesca Bedeschi, Francesca Faravelli, Angelo Selicorni, Lidia Larizza

    Published 2006
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  9. 9
    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme

    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme by Kevin Monahan, Neil Ryan, Laura Monje‐Garcia, Ruth Armstrong, David N. Church, Jackie Cook, Alaa El‐Ghobashy, Fiona Lalloo, S. Lane, Frank McDermott, Tracie Miles, Steven Hardy, Adele Tyson, Valerie Ya Wen Wang, Anna Kim, Simone Gelinas, Francesca Faravelli, Frances Elmslie, Adam Shaw

    Published 2023
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  10. 10
    Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

    Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations by Elena Rossi, Flavia Piccini, Marcella Zollino, Giovanni Neri, Désirée Caselli, Romano Tenconi, Claudio Castellan, Romeo Carrozzo, Cesare Danesino, Orsetta Zuffardi, Angela Ragusa, Lucia Castiglia, Ornella Galesi, Donatella Greco, Corrado Romano, Mauro Pierluigi, Chiara Perfumo, M. Di Rocco, Francesca Faravelli, F. Dagna Bricarelli, María Clara Bonaglia, MariaFrancesca Bedeschi, Renato Borgatti

    Published 2001
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  11. 11
    Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

    Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor by Bart Loeys, Ulrike Schwarze, Tammy M. Holm, Bert Callewaert, George H. Thomas, Hariyadarshi Pannu, Julie De Backer, Gretchen Oswald, Sofie Symoens, Sylvie Manouvrier, Amy E. Roberts, Francesca Faravelli, M. Alba Greco, Reed E. Pyeritz, Dianna M. Milewicz, Paul Coucke, Duke E. Cameron, Alan C. Braverman, Peter H. Byers, Anne M. De Paepe, Harry C. Dietz

    Published 2006
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  12. 12
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI by Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry A.G.M. Huisman, Miriam Iannicelli, Gerhard Kluger, Mårten Kyllerman, Magnus Landgren, Melissa Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E. Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

    Published 2012
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  13. 13
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Published 2013
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  14. 14
    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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  15. 15
    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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  16. 16
    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients by Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perrìa, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, Marcella Neri, Alessandra Ferlini, Maria Luigia Cavaliere, Pietro Chiurazzi, Matteo Della Monica, Gioacchino Scarano, Francesca Faravelli, Paola Ferrari, Laura Mazzanti, Alba Pilotta, Maria Grazia Patricelli, Maria Francesca Bedeschi, Francesco Benedicenti, Paolo Prontera, Benedetta Toschi, Leonardo Salviati, Daniela Melis, E. Di Battista, Alessandra Vancini, Livia Garavelli, Leopoldo Zelante, Giuseppe Merla

    Published 2014
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  17. 17
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients by Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

    Published 2011
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  18. 18
    <i>De novo</i> balanced chromosome rearrangements in prenatal diagnosis

    <i>De novo</i> balanced chromosome rearrangements in prenatal diagnosis by Daniela Giardino, Cecilia Corti, Lucia Ballarati, Daniela Colombo, Elena Sala, Nicoletta Villa, Giuseppe Piombo, Mauro Pierluigi, Francesca Faravelli, Silvana Guerneri, Domenico Coviello, Faustina Lalatta, Ugo Cavallari, Daniela Bellotti, Sergio Barlati, Gianfranco Croci, Fabrizia Franchi, Elisa Savin, G. Nocera, Francesco Amico, Paola Granata, Rosario Casalone, Lucia Nutini, Ermanna Lisi, Francesca Torricelli, Ursula Giussani, Barbara Facchinetti, Ginevra Guanti, Marilena Di Giacomo, Francesco Paolo Susca, Vanna Pecile, Lorenza Romitti, Laura Cardarelli, Erika Racalbuto, Maria Adalgisa Police, Francamaria Chiodo, Ornella Rodeschini, Patrizia Falcone, Emilio Donti, Maria Grazia Grimoldi, Emanuela Martinoli, Sabine Stioui, Daniele Caufin, S. Lauricella, Salvatrice Antonella Tanzariello, Gianfranco Voglino, Elisabetta Lenzini, M Besozzi, Lidia Larizza, Leda Dalprà

    Published 2009
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  19. 19
    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases by Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz

    Published 2014
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  20. 20
    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients by Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Fabia Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djurić, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Barış Malbora, Isabella Mammi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, María Luisa Poch-Olivé, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B. Dobyns, Alex R. Paciorkowski

    Published 2016
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