Torthaí cuardaigh - Maria Antonietta Mencarelli

Beachtaigh na torthaí
  1. 1
    Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

    Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant de réir A. Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello

    Foilsithe / Cruthaithe 2017
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  2. 2
    Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

    Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene de réir Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabìo Macciardi, Rolph Pfundt, Eric Schoenmakers, Lidia Larizza

    Foilsithe / Cruthaithe 2009
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  3. 3
    iPS cells to model CDKL5-related disorders

    iPS cells to model CDKL5-related disorders de réir Mariangela Amenduni, Roberta De Filippis, Aaron Cheung, Vittoria Disciglio, Maria Carmela Epistolato, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Joussef Hayek, Alessandra Renieri, James Ellis, Ilaria Meloni

    Foilsithe / Cruthaithe 2011
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  4. 4
    GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

    GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells de réir Gabriella Livide, Tommaso Patriarchi, Mariangela Amenduni, Sonia Amabile, Dag H. Yasui, Eleonora Calcagno, Caterina Lo Rizzo, Giulia De Falco, Cristina Ulivieri, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Johannes Hell, Alessandra Renieri, Ilaria Meloni

    Foilsithe / Cruthaithe 2014
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  5. 5
    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

    FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome de réir Francesca Ariani, Joussef Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renieri

    Foilsithe / Cruthaithe 2008
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  6. 6
    Alport syndrome: impact of digenic inheritance in patients management

    Alport syndrome: impact of digenic inheritance in patients management de réir Chiara Fallerini, Margherita Baldassarri, Eva Trevisson, Valeria Morbidoni, Angela La Manna, Roberta Lazzarin, Andrea Pasini, G Barbano, Angela Rosa Pinciaroli, Guido Garosi, Elisa Frullanti, Anna Maria Pinto, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani

    Foilsithe / Cruthaithe 2016
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  7. 7
    New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

    New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells de réir Sergio Daga, Francesco Donati, Katia Capitani, Susanna Croci, Rossella Tita, Annarita Giliberti, Floriana Valentino, Elisa Benetti, Chiara Fallerini, Francesca Niccheri, Margherita Baldassarri, Maria Antonietta Mencarelli, Elisa Frullanti, Simone Furini, Silvestro G. Conticello, Alessandra Renieri, Anna Maria Pinto

    Foilsithe / Cruthaithe 2019
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  8. 8
    Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

    Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing de réir Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri

    Foilsithe / Cruthaithe 2013
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  9. 9
    Regulatory variants of FOXG1 in the context of its topological domain organisation

    Regulatory variants of FOXG1 in the context of its topological domain organisation de réir Mana M. Mehrjouy, Ana Carolina Fonseca, Nadja Ehmke, Giorgio Adriano Paskulin, Antonio Novelli, Francesco Benedicenti, Maria Antonietta Mencarelli, Alessandra Renieri, Tiffany Busa, Chantal Missirian, Claus Hansen, Kikue Terada Abe, Carlos E. Speck‐Martins, Angela Maria Vianna‐Morgante, Mads Bak, Niels Tommerup

    Foilsithe / Cruthaithe 2017
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  10. 10
    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

    Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism de réir Sara Amitrano, Annabella Marozza, Serena Somma, Valentina Imperatore, Theodora Hadjistilianou, Sonia De Francesco, Paolo Toti, Daniela Galimberti, Ilaria Meloni, Francesco Cetta, Pietro Piu, Chiara Di Marco, Laura Dosa, Caterina Lo Rizzo, Giulia Carignani, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani

    Foilsithe / Cruthaithe 2015
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  11. 11
    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome de réir Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso, Dalila Rondinella, Roberta De Filippis, Nadia Bahi‐Buisson, Juliette Nectoux, R. Rubinsztajn, Thierry Bienvenu, A. Moncla, B. Chabrol, Laurent Villard, Zita Krūmiņa, Judith Armstrong, Ana Roche, M. Pineda, Eva Gak, Francesca Mari, Francesca Ariani, Alessandra Renieri

    Foilsithe / Cruthaithe 2009
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  12. 12
    Evidence of digenic inheritance in Alport syndrome

    Evidence of digenic inheritance in Alport syndrome de réir Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A. Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, H.J.M. Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri

    Foilsithe / Cruthaithe 2015
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  13. 13
    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing de réir Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina S. Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

    Foilsithe / Cruthaithe 2021
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  14. 14
    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor de réir Jeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, Sean Vandevoort, Greet D'Haenens, Griet Van Buggenhout, Lore Leempoels, Elise Brischoux‐Boucher, Lionel Van Maldergem, Alessandra Renieri, Maria Antonietta Mencarelli, Carla S. D’Angelo, Verónica Mericq, Mariëtte J.V. Hoffer, Maïthé Tauber, Catherine Molinas, Claudia Castiglioni, Nathalie Brison, Joris Vermeesch, Marina Danckaerts, Pascal Sienaert, Koenraad Devriendt, Annick Vogels

    Foilsithe / Cruthaithe 2016
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  15. 15
    Epilepsy in Rett syndrome—Lessons from the Rett networked database

    Epilepsy in Rett syndrome—Lessons from the Rett networked database de réir Andreea Nissenkorn, Rachel S. Levy‐Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercédes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi‐Buisson, Bosnjak Vlatka Mejaski, Milena Djurić, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne‐Marie Bisgaard, Béla Melegh, Aglaia Vignoli, Silvia Russo, C. Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben Zeev

    Foilsithe / Cruthaithe 2015
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  16. 16
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation de réir Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    Foilsithe / Cruthaithe 2012
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  17. 17
    Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-<i>α</i> Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

    Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-<i>α</i> Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from t... de réir Carla Gaggiano, Antonio Vitale, Laura Obici, Giampaolo Merlini, Alessandra Soriano, Ombretta Viapiana, Marco Cattalini, Maria Cristina Maggio, Giuseppe Lopalco, Davide Montin, Masen Abdel Jaber, Lorenzo Dagna, Raffaele Manna, Antonella Insalaco, Matteo Piga, Francesco La Torre, Virginia Berlengiero, Viviana Gelardi, Luisa Ciarcia, Giacomo Emmi, Piero Ruscitti, Francesco Caso, Rolando Cimaz, José Hernández‐Rodríguez, Paola Parronchi, Ludovico Luca Sicignano, Elena Verrecchia, Florenzo Iannone, Jurgen Sota, Salvatore Grosso, Carlo Salvarani, Bruno Frediani, Roberto Giacomelli, Maria Antonietta Mencarelli, Alessandra Renieri, Donato Rigante, Luca Cantarini

    Foilsithe / Cruthaithe 2020
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  18. 18
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients de réir 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

    Foilsithe / Cruthaithe 2011
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  19. 19
    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD de réir Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer Howe, Emanuele Agolini, Domenico Coviello, Ingrid M.B.H. van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia Pia Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoît Mazel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Marjon A. van Slegtenhorst, Noor A. A. Giesbertz, Richard H. van Jaarsveld, Anna K. Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

    Foilsithe / Cruthaithe 2022
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  20. 20
    <i>FANCM</i>c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

    <i>FANCM</i>c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor de réir Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos J. Mucaki, Massimo Bogliolo, Maria Marín, Francesca Damiola, Loris Bernard, Valeria Pensotti, Sara Volorio, Valentina Dall’Olio, Alfons Meindl, Claus R. Bartram, Christian Sutter, Harald Surowy, Valérie Sornin, Marie‐Gabrielle Dondon, Séverine Eon‐Marchais, Dominique Stoppa‐Lyonnet, Nadine Andrieu, Olga M. Sinilnikova, Gillian Mitchell, Paul A. James, Ella R. Thompson, Marina Marchetti, Cristina Verzeroli, Carmen Julia Tartari, Gabriele Lorenzo Capone, Anna Laura Putignano, Maurizio Genuardi, Veronica Medici, Isabella Marchi, Massimo Federico, Silvia Tognazzo, Laura Matricardi, Simona Agata, Riccardo Dolcetti, Lara Della Puppa, Giulia Cini, Viviana Gismondi, Valeria Viassolo, Chiara Perfumo, Maria Antonietta Mencarelli, Margherita Baldassarri, Bernard Peissel, Gaia Roversi, Valentina Silvestri, Piera Rizzolo, Francesca Spina, Caterina Vivanet, Maria Grazia Tibiletti, Maria A. Caligo, Gaetana Gambino, Stefania Tommasi, Brunella Pilato, Carlo Tondini, Chiara Corna, Bernardo Bonanni, Monica Barile, Ana Osório, Javier Benı́tez, Luisa Balestrino, Laura Ottini, Siranoush Manoukian, Marco A. Pierotti, Alessandra Renieri, Liliana Varesco, Fergus J. Couch, Xianshu Wang, Peter Devilee, Florentine Hilbers, Christi J. van Asperen, Alessandra Viel, Marco Montagna, Laura Cortesi, Orland Dı́ez, Judith Balmañà, Jan Hauke, Rita K. Schmutzler, Laura Papi, Miguel Ángel Pujana, Conxi Lázaro, Anna Falanga, Kenneth Offit, Joseph Vijai, Ian Campbell, Barbara Burwinkel, Anders Kvist, Hans Ehrencrona, Sylvie Mazoyer, Sara Pizzamiglio, Paolo Verderio, Jordi Surrallés, Peter K. Rogan, Paolo Radice

    Foilsithe / Cruthaithe 2015
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