Resultados de procura - Annalisa Vetro

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  1. 1
    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?

    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? por The‐Hung Bui, Annalisa Vetro, Orsetta Zuffardi, Lisa G. Shaffer

    Publicado 2011
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  2. 2
    <i>PRKACB</i> and Carney Complex

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

    Publicado 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 por Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Maria Grazia Patricelli, Erika Della Mina, Antonella Forlino, Orsetta Zuffardi

    Publicado 2011
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  4. 4
    <i>SMARCA4</i> inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

    <i>SMARCA4</i> inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type por Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Giglio, Patrizia Morbini, Orsetta Zuffardi

    Publicado 2017
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  5. 5
    Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

    Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs por Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, D. Groppetti, Enrico Bigliardi, G.C. Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi, P. Parma

    Publicado 2014
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  6. 6
    The introduction of arrays in prenatal diagnosis: A special challenge

    The introduction of arrays in prenatal diagnosis: A special challenge por Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic McMullan, Joris Vermeesch, Konstantin Miller, Birgit Sikkema‐Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij‐Arts

    Publicado 2012
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  7. 7
    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 por 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

    Publicado 2011
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  8. 8
    MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

    MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome por Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati, Orsetta Zuffardi

    Publicado 2017
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  9. 9
    Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

    Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure por María Andrea Desbats, Annalisa Vetro, Ivan Limongelli, G. Lunardi, Alberto Casarin, Mara Doimo, Marco Spinazzi, C. Angelini, Giovanna Cenacchi, Alberto Burlina, María Hernández, Lino Chiandetti, Maurizio Clementi, Eva Trevisson, Plácido Navas, Orsetta Zuffardi, Leonardo Salviati

    Publicado 2015
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  10. 10
    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform por 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

    Publicado 2014
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  11. 11
    Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing

    Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing por Calvin Ke, Anélia Horvath, Edra London, Fábio R. Faucz, Annalisa Vetro, Isaac Lévy, Evgenia Gourgari, Andrew Dauber, Ingrid A. Holm, Patrick J. Morrison, Margaret F. Keil, Charalampos Lyssikatos, Eric D. Smith, Marc A. Sanidad, JoAnn C. Kelly, Zunyan Dai, Philip N. Mowrey, Antonella Forlino, Orsetta Zuffardi, Constantine A. Stratakis

    Publicado 2013
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  12. 12
    Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

    Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 por Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi, Carla Auriemma, Roberta Russo, Luigia De Falco, Fara Vallefuoco, Maria Rosaria Esposito, David H. Vandorpe, Boris E. Shmukler, Rupa Narayan, Donatella Montanaro, Maria D’Armiento, Annalisa Vetro, Ivan Limongelli, Orsetta Zuffardi, Bertil Glader, Stanley L. Schrier, Carlo Brugnara, Gordon W. Stewart, J. Delaunay, Achille Iolascon

    Publicado 2013
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  13. 13
    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 por Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada‐Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, M Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, M Basly, Myriam Châabouni, Massimo Carella, Gianni Russo, María Clara Bonaglia, Orsetta Zuffardi

    Publicado 2014
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  14. 14
    Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

    Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome por Felix Beuschlein, Martin Faßnacht, Guillaume Assié, Davide Calebiro, Constantine A. Stratakis, Andrea Oßwald, Cristina L. Ronchi, Thomas Wieland, Silviu Sbiera, Fábio R. Faucz, Katrin Schaak, Anett Schmittfull, Thomas Schwarzmayr, Olivia Barreau, Delphine Vezzosi, Marthe Rizk‐Rabin, Ulrike Zabel, Eva Szarek, Calvin Ke, Antonella Forlino, Annalisa Vetro, Orsetta Zuffardi, Caroline Kisker, Susanne Diener, Thomas Meitinger, Martin J. Lohse, Martín Reincke, Jérôme Bertherat, Tim M. Strom, Bruno Allolio

    Publicado 2014
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  15. 15
    The phenotype of recurrent 10q22q23 deletions and duplications

    The phenotype of recurrent 10q22q23 deletions and duplications por 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

    Publicado 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 por 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

    Publicado 2007
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  17. 17
    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria por Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M.S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid E. Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir

    Publicado 2021
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  18. 18
    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 por 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

    Publicado 2011
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  19. 19
    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases por Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto

    Publicado 2022
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  20. 20
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study por Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    Publicado 2020
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