Search Results - Maria Iascone

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  1. 1

    ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype by Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi

    Published in Annals of the Child Neurology Society (2024-03-01)
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  2. 2

    Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature by Sebastian Militaru, Robert Adam, Lucian Dorobantu, Paolo Ferrazzi, Maria Iascone, Viorica Radoi, Gener Ismail, Bogdan A. Popescu, Ruxandra Jurcut

    Published in Anatolian Journal of Cardiology (2019-08-01)
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  3. 3

    Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome by Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

    Published in Italian Journal of Pediatrics (2024-05-01)
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  4. 4

    Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants by Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Pierangelo Veggiotti, Stefania Maria Bova

    Published in Frontiers in Neurology (2023-07-01)
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  5. 5

    Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia by Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini

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  6. 6

    Genetics architecture of spontaneous coronary artery dissection in an Italian cohort by Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, Paola Mandich, Paola Mandich

    Published in Frontiers in Cardiovascular Medicine (2024-11-01)
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  7. 7

    A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation. by Maria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone

    Published in PLoS ONE (2016-01-01)
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  8. 8

    Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladder by Riccardo Pagani, Laura Lorioli, Francesca Favini, Eleonora Severi, Marco Salvi, Lidia Pezzani, Maria Iascone, Lucia Migliazza, Claudia Pellegrinelli, Maurizio Cheli, Massimo Provenzi, Giovanna Mangili

    Published in Frontiers in Pediatrics (2025-03-01)
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  9. 9

    Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli

    Published in Frontiers in Genetics (2024-03-01)
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  10. 10

    Menkes disease complicated by concurrent ACY1 deficiency: A case report by Alessia Mauri, Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda

    Published in Frontiers in Genetics (2023-03-01)
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  11. 11

    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature by Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi

    Published in Italian Journal of Pediatrics (2024-08-01)
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  12. 12

    Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter by Silvia Castiglioni, Laura Pezzoli, Lidia Pezzani, Antonella Lettieri, Elisabetta Di Fede, Anna Cereda, Silvia Ancona, Andrea Gallina, Elisa Adele Colombo, Chiara Parodi, Paolo Grazioli, Esi Taci, Donatella Milani, Maria Iascone, Valentina Massa, Cristina Gervasini

    Published in Orphanet Journal of Rare Diseases (2024-12-01)
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  13. 13

    Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? by Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone

    Published in Molecular Genetics & Genomic Medicine (2020-03-01)
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  14. 14

    Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction by Laura Caleca, Irene Catucci, Gisella Figlioli, Loris De Cecco, Tina Pesaran, Maggie Ward, Sara Volorio, Sara Volorio, Anna Falanga, Marina Marchetti, Maria Iascone, Carlo Tondini, Alberto Zambelli, Jacopo Azzollini, Siranoush Manoukian, Paolo Radice, Paolo Peterlongo

    Published in Frontiers in Oncology (2018-10-01)
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  15. 15

    Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management by Laura Pezzoli, Lidia Pezzani, Ezio Bonanomi, Chiara Marrone, Agnese Scatigno, Anna Cereda, Maria Francesca Bedeschi, Angelo Selicorni, Serena Gasperini, Paolo Bini, Silvia Maitz, Carla Maccioni, Cristina Pedron, Lorenzo Colombo, Daniela Marchetti, Matteo Bellini, Anna Rita Lincesso, Loredana Perego, Monica Pingue, Nunzia Della Malva, Giovanna Mangili, Paolo Ferrazzi, Maria Iascone

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  16. 16

    Inferring disease course from differential exon usage in the wide titinopathy spectrum by Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F. Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera De Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A. Kurbatov, Tania Attie‐Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese

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  17. 17

    Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish by Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia

    Published in Nature Communications (2022-11-01)
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  18. 18

    P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies* by Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski

    Published in Genetics in Medicine Open (2023-01-01)
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  19. 19

    Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring by Eleonora Bonaventura, Eleonora Bonaventura, Luisella Alberti, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Giana Izzo, Cecilia Parazzini, Cecilia Parazzini, Alessandra Bosetti, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Matilde Ferrario, Chiara Mameli, Chiara Mameli, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Silvia Masnada, Gian Vincenzo Zuccotti, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Luigina Spaccini, Maria Iascone, Elvira Verduci, Elvira Verduci, Elvira Verduci, Cristina Cereda, Cristina Cereda, Davide Tonduti, Davide Tonduti, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

    Published in Frontiers in Neurology (2024-03-01)
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  20. 20

    Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring by Eleonora Bonaventura, Eleonora Bonaventura, Luisella Alberti, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Giana Izzo, Cecilia Parazzini, Cecilia Parazzini, Alessandra Bosetti, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Matilde Ferrario, Chiara Mameli, Chiara Mameli, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Silvia Masnada, Gian Vincenzo Zuccotti, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Luigina Spaccini, Maria Iascone, Elvira Verduci, Elvira Verduci, Elvira Verduci, Cristina Cereda, Cristina Cereda, Davide Tonduti, Davide Tonduti, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

    Published in Frontiers in Neurology (2023-01-01)
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