Resultados de búsqueda - Luigina Spaccini

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  1. 1
    Monochorionic Diamniotic Twins with Sex Discordance: Case Series

    Monochorionic Diamniotic Twins with Sex Discordance: Case Series por Valentina Sala, Luigina Spaccini, S. Faiola, Daniela Casati, Arianna Laoreti, Lisanne S.A. Tollenaar, Enrico Lopriore, Mariano Lanna

    Publicado 2025
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  2. 2
    Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

    Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 por Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà, Gaia Roversi, Angela Bentivegna

    Publicado 2019
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  3. 3
    Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

    Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study por Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, A Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco

    Publicado 2024
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  4. 4
    Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

    Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring por Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti

    Publicado 2023
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  5. 5
    Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy

    Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy por Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Antonio Terracciano, Lucio Parmeggiani, Anna Rita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrini

    Publicado 2012
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  6. 6
    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) por Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, D. Rating, Romina Romaniello, Filippo M. Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente

    Publicado 2016
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  7. 7
    Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

    Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance por Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Di Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi, Lorella Caffi, Viviana Cardilli, Francesca Darra, Bernardo Dalla Bernardina, Lucia Fusco, R. Gaggero, Lucio Giordano, Renzo Guerrini, Gemma Incorpora, Massimo Mastrangelo, Luigina Spaccini, Anna Maria Laverda, Marilena Vecchi, Francesca Vanadia, Pierangelo Veggiotti, Maurizio Viri, Guya Occhi, M Budetta, Maurizio Taglialatela, Domenico Coviello, Federico Vigevano, Carlo Minetti

    Publicado 2013
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  8. 8
    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females por Roberto Giorda, María Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Benedetto, S Musumeci, Girolamo Aurelio Vitello, Pinella Failla, S Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, Massimo Mastrangelo, Isabella Fiocchi, Luigina Spaccini, Claudia Torniero, Elena Fontana, Sally Ann Lynch, Jill Clayton‐Smith, Graeme Black, Philippe Jonveaux, Bruno Leheup, Marco Seri, Corrado Romano, Bernardo Dalla Bernardina, Orsetta Zuffardi

    Publicado 2009
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  9. 9
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing por Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    Publicado 2017
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  10. 10
    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism por John J. Reynolds, Louise S. Bicknell, Paula Carroll, Martin R. Higgs, Ranad Shaheen, Jennie Murray, Dimitrios K. Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R. Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M.A. Mottram, Clare V. Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S. Alsaif, Ariella Amar, Natalie J. Prescott, Michael B. Bober, Angela L. Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahman Alswaid, Saleem Ahmed, Jumana Y. Al‐Aama, Janine Altmüller, Mohammed Al Balwi, Angela F. Brady, Luciana Chessa, Helen Cox, Rita Fischetto, Raoul Heller, B Henderson, Emma Hobson, Peter Nürnberg, E. Ferda Perçin, Angela Peron, Luigina Spaccini, Alan J. Quigley, Seema Thakur, Carol A. Wise, Grace Yoon, Maha Alnemer, Pavel Tomančák, Gökhan Yigit, A. Malcolm R. Taylor, Martin A.M. Reijns, Michael A. Simpson, David Cortez, Fowzan S. Alkuraya, Christopher G. Mathew, Andrew P. Jackson, Grant S. Stewart

    Publicado 2017
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  11. 11
    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care por Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

    Publicado 2018
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  12. 12
    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation por Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov, Anita Beck, Emily Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz‐Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary Kay Koenig, Madeline Graf, Alyssa A. Tran, Mercedes E. Alejandro, Brendan Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao‐Tuan Chao, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine

    Publicado 2020
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