Výsledky vyhledávání - Stefania Gimelli

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  1. 1
    Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

    Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children Autor Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, M. Mascaretti, Giorgio Gimelli

    Vydáno 2011
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  2. 2
    Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

    Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation Autor Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Stefania Gimelli, Maria Teresa Divizia, Silvana Beri, Silvio Garofalo, Sara Tavella, Margherita Lerone, Orsetta Zuffardi, Michael Bäder, Roberto Ravazzolo, Giorgio Gimelli

    Vydáno 2007
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  3. 3
    Modelling and rescuing neurodevelopmental defect of <scp>D</scp>own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

    Modelling and rescuing neurodevelopmental defect of <scp>D</scp>own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Autor Youssef Hibaoui, Iwona Grad, Audrey Letourneau, M. Reza Sailani, Sophie Dahoun, Federico Santoni, Stefania Gimelli, Michel Guipponi, Marie Françoise Pelte, Frédérique Béna, Stylianos E. Antonarakis, Anis Féki

    Vydáno 2013
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  4. 4
    Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

    Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Autor Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola

    Vydáno 2009
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  5. 5
    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 Autor 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

    Vydáno 2008
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  6. 6
    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 Autor 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

    Vydáno 2007
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  7. 7
    Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

    Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract Autor Stefania Gimelli, Gianluca Caridi, Silvana Beri, Kyle W. McCracken, Renata Bocciardi, Paola Zordan, Monica Dagnino, Patrizia Fiorio, Luisa Murer, Elisa Benetti, Orsetta Zuffardi, Roberto Giorda, James M. Wells, Giorgio Gimelli, Gian Marco Ghiggeri

    Vydáno 2010
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  8. 8
    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients Autor Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, P Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, O. Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino

    Vydáno 2006
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  9. 9
    Characterization of a recurrent 15q24 microdeletion syndrome

    Characterization of a recurrent 15q24 microdeletion syndrome Autor Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue Price, Nine V.A.M. Knoers, Peggy S. Eis, Han G. Brunner, Raoul C. M. Hennekam, Samantha J.L. Knight, Bert B.A. de Vries, Orsetta Zuffardi, Evan E. Eichler

    Vydáno 2007
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  10. 10
    Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

    Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration Autor Aoife Murray, Audrey Letourneau, Claudia Canzonetta, Elisavet Stathaki, Stefania Gimelli, Frédérique Sloan‐Béna, Robert Abrehart, Pollyanna Goh, Shuhui Lim, Chiara Baldo, Franca Dagna‐Bricarelli, Saad Hannan, Martin Mortensen, David Ballard, Denise Syndercombe Court, Noemi Fusaki, Mamoru Hasegawa, Trevor G. Smart, Cleo L. Bishop, Stylianos E. Antonarakis, Jürgen Groet, Dean Nižetić

    Vydáno 2015
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  11. 11
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature Autor Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Vydáno 2013
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  12. 12
    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families Autor Periklis Makrythanasis, Mari Nelis, Federico Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia A. Temtamy, André Mégarbané, Amira Masri, Mona Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos A. Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou‐Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al‐Allawi, Abdelaziz Sefiani, Sana' A. S. Al Hait, Siham Chafai Elalaoui, Nadine Jalkh, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, D.N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis

    Vydáno 2014
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  13. 13
    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 Autor 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

    Vydáno 2007
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  14. 14
    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 Autor 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

    Vydáno 2011
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  15. 15
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Autor Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

    Vydáno 2008
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  16. 16
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Autor Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    Vydáno 2011
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