Bilaketaren emaitzak - Maria Iascone

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  1. 1
    A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy

    A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy nork Attilio Iacovoni, Paolo Spirito, Carlos Simón, Maria Iascone, Giovanni Di Dedda, Paolo De Filippo, Samuele Pentiricci, Luca Boni, Michele Senni, Antonello Gavazzi, P Ferrazzi

    Argitaratua 2012
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  2. 2
    Endocardial Fibroelastosis Is Caused by Aberrant Endothelial to Mesenchymal Transition

    Endocardial Fibroelastosis Is Caused by Aberrant Endothelial to Mesenchymal Transition nork Xingbo Xu, Ingeborg Friehs, Tachi Zhong Hu, Ivan Melnychenko, Björn Tampe, Fouzi Alnour, Maria Iascone, Raghu Kalluri, Michael Zeisberg, Pedro J. del Nido, Elisabeth M. Zeisberg

    Argitaratua 2015
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  3. 3
    Contemporary genetic testing in inherited cardiac disease

    Contemporary genetic testing in inherited cardiac disease nork Francesca Girolami, Giulia Frisso, Matteo Benelli, Lia Crotti, Maria Iascone, Ruggiero Mango, Cristina Mazzaccara, Kalliopi Pilichou, Eloisa Arbustini, Benedetta Tomberli, Giuseppe Limongelli, Cristina Basso, Iacopo Olivotto

    Argitaratua 2017
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  4. 4
    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias nork Jesse B.G. Hayesmoore, Zahurul A. Bhuiyan, Domenico Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah Morris‐Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate Thomson

    Argitaratua 2023
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  5. 5
    DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort

    DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort nork Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Alfonso Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo

    Argitaratua 2023
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  6. 6
    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 nork 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

    Argitaratua 2011
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  7. 7
    Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias

    Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias nork Francesca Girolami, Maria Iascone, Benedetta Tomberli, Sara Bardi, Matteo Benelli, Giuseppina Marseglia, Chiara Pescucci, Laura Pezzoli, Maria Elena Sana, Cristina Basso, Nicola Marziliano, Piera Angelica Merlini, Alessandra Fornaro, Franco Cecchi, Francesca Torricelli, Iacopo Olivotto

    Argitaratua 2014
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  8. 8
    Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

    Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties nork Marc Descatoire, Sandra Weller, Sabine Irtan, Sabine Sarnacki, Jean Feuillard, Sébastien Storck, Anne Guiochon‐Mantel, Jérôme Bouligand, A. Morali, J. Cohen, Emmanuel Jacquemin, Maria Iascone, Christine Bôle‐Feysot, Nicolas Cagnard, Jean‐Claude Weill, Claude‐Agnès Reynaud

    Argitaratua 2014
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  9. 9
    Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

    Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties nork Marc Descatoire, Sandra Weller, Sabine Irtan, Sabine Sarnacki, Jean Feuillard, Sébastien Storck, Anne Guiochon‐Mantel, Jérôme Bouligand, A. Morali, J. Cohen, Emmanuel Jacquemin, Maria Iascone, Christine Bôle‐Feysot, Nicolas Cagnard, Jean‐Claude Weill, Claude‐Agnès Reynaud

    Argitaratua 2014
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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 nork 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

    Argitaratua 2014
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  11. 11
    Significance of Sarcomere Gene Mutations Analysis in the End-Stage Phase of Hypertrophic Cardiomyopathy

    Significance of Sarcomere Gene Mutations Analysis in the End-Stage Phase of Hypertrophic Cardiomyopathy nork Elena Biagini, Iacopo Olivotto, Maria Iascone, Maria Isola Parodi, Francesca Girolami, Giulia Frisso, Camillo Autore, Giuseppe Limongelli, Maurizio Cecconi, Barry J. Maron, Martin S. Maron, Stefania Rosmini, Francesco Formisano, Beatrice Musumeci, Franco Cecchi, Attilio Iacovoni, Tammy S. Haas, Maria Letizia Bacchi Reggiani, Paolo Ferrazzi, Francesco Salvatore, Paolo Spirito, Claudio Rapezzi

    Argitaratua 2014
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  12. 12
    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 nork 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

    Argitaratua 2023
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  13. 13
    Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes

    Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes nork Patrizia Benzoni, Giulia Campostrini, Sara Landi, Valeria Bertini, Eleonora Marchina, Maria Iascone, Gustav Ahlberg, Morten S. Olesen, Elisabetta Crescini, Cristina Mora, Gianluigi Bisleri, Claudio Muneretto, Roberto Ronca, Marco Presta, Pietro Luigi Poliani, Giovanna Piovani, Rosanna Verardi, Elisa Di Pasquale, Antonella Consiglio, Ángel Raya, Eleonora Torre, Alessandra Maria Lodrini, Raffaella Milanesi, Marcella Rocchetti, Mirko Baruscotti, Dario DiFrancesco, Maurizio Memo, Andrea Barbuti, Patrizia Dell’Era

    Argitaratua 2019
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  14. 14
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies nork Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Argitaratua 2019
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  15. 15
    Cohesin complex-associated holoprosencephaly

    Cohesin complex-associated holoprosencephaly nork Paul Kruszka, Seth Berger, Valentina Casà, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, Angie Lichty, Oebele F. Brouwer, Evelien Zonneveld‐Huijssoon, Mark J. Stephan, Jacob S. Hogue, Ping Hu, Momoko Tanima-Nagai, Joshua L. Everson, Chitra Prasad, Anna Cereda, Maria Iascone, Allison Schreiber, Vickie Zurcher, Nicole Corsten‐Janssen, Luis Escobar, Nancy J. Clegg, Mauricio R. Delgado, Omkar Hajirnis, Meena Balasubramanian, Hülya Kayserili, Matthew A. Deardorff, Raymond A. Poot, Kerstin S. Wendt, Robert J. Lipinski, Maximilian Muenke

    Argitaratua 2019
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  16. 16
    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy nork Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Laura Planas‐Serra, Irene de la Calle, Miquel Raspall‐Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estíbaliz Barredo Valderrama, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruíz, Agatha Schlüter, Isabelle Rouvet, Júlia Sala‐Coromina, C Fossati, Maria Iascone, Francesco Canonico, Anna Marcé‐Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis González Gutiérrez-Solana, Alfredo Brusco, M. Kœnig, Alfons Macaya, Aurora Pujol

    Argitaratua 2021
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  17. 17
    DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

    DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes nork Sanaa Choufani, William T. Gibson, Andrei L. Turinsky, Brian Hon‐Yin Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S.A. Cohen, Sharri Cyrus, Sarah J. Goodman, Eric Chater‐Diehl, Jack Brzezinski, Michael Brudno, Luk Ho Ming, Susan M. White, Sally Ann Lynch, Carol L. Clericuzio, I. Karen Temple, Frances Flinter, Vivienne McConnell, Tom Cushing, Lynne M. Bird, Miranda Splitt, Bronwyn Kerr, Stephen W. Scherer, Jerry Machado, Eri Imagawa, Nobuhiko Okamoto, Naomichi Matsumoto, Giuseppe Testa, Maria Iascone, Romano Tenconi, Oana Caluseriu, Roberto Mendoza‐Londono, David Chitayat, Cheryl Cytrynbaum, Katrina Tatton‐Brown, Rosanna Weksberg

    Argitaratua 2020
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  18. 18
    Clinical Profile of Cardiac Involvement in Danon Disease

    Clinical Profile of Cardiac Involvement in Danon Disease nork Dor Lotan, Joel Salazar‐Mendiguchía, Jens Mogensen, Faizan Rathore, Aris Anastasakis, Juan Pablo Kaski, Pablo García‐Pavía, Iacopo Olivotto, Philippe Charron, Elena Biagini, Anwar Baban, Giuseppe Limongelli, Waddah Ashram, Yishay Wasserstrum, Joseph Galvin, Esther Zorio, Attilio Iacovoni, Lorenzo Monserrat, Paolo Spirito, Maria Iascone, Michael Arad, Chana Mandel, Herminio Morillas, Esther González-López, Fernándo Domínguez, Daniela Marchetti, Laura Pezzoli, Katie Anne Walsh, Catherine McGorrian, Raffaello Ditaranto, Giovanni Vitale, Eric Villard, Pascale Richard, Emanuele Monda, Martina Caiazza, Silvia Passantino, Francesca Girolami, Fabrizio Drago, Rachele Adorisio, Ella Field, Dov Freimark, Ulrik Baandrup

    Argitaratua 2020
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  19. 19
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome nork Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Argitaratua 2018
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  20. 20
    Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

    Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry nork Lia Crotti, Carla Spazzolini, Mette Nyegaard, Michael T. Overgaard, Maria‐Christina Kotta, Federica Dagradi, Luca Sala, Takeshi Aiba, Mark D. Ayers, Anwar Baban, Julien Barc, Cheyenne M. Beach, Elijah R. Behr, J. Martijn Bos, Marina Cerrone, Peter Covi, Bettina F. Cuneo, Isabelle Denjoy, Birgit Donner, Adrienne Elbert, Håkan Eliasson, Susan P. Etheridge, Megumi Fukuyama, Francesca Girolami, Robert M. Hamilton, Minoru Horie, Maria Iascone, Juan Jiménez‐Jáimez, Henrik Kjærulf Jensen, Prince J. Kannankeril, Juan Pablo Kaski, Naomasa Makita, Carmen Muñoz‐Esparza, Hans Henrik Odland, Seiko Ohno, John Papagiannis, Alessandra Pia Porretta, C. Prandstetter, Vincent Probst, Tomas Robyns, Éric Rosenthal, Ferran Rosés‐Noguer, Nicole Sekarski, Anoop Singh, Georgia Spentzou, Fridrike Stute, Jacob Tfelt‐Hansen, Jan Till, Kathryn E. Tobert, Jeffrey M. Vinocur, Gregory Webster, Arthur A.M. Wilde, Cordula M. Wolf, Michael J. Ackerman, Peter J. Schwartz

    Argitaratua 2023
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