檢索結果 - Antonio Musio

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  1. 1
    The multiple facets of the SMC1A gene

    The multiple facets of the SMC1A gene 由 Antonio Musio

    出版 2020
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  2. 2
    The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer

    The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer 由 Linda Mannini, Stefania Menga, Antonio Musio

    出版 2010
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  3. 3
    Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

    Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach 由 Patrizia Sarogni, Maria Michela Pallotta, Antonio Musio

    出版 2019
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  4. 4
    The multifaceted roles of cohesin in cancer

    The multifaceted roles of cohesin in cancer 由 Maddalena Di Nardo, Maria Michela Pallotta, Antonio Musio

    出版 2022
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  5. 5
    Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease

    Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease 由 Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    出版 2009
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  6. 6
    Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

    Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome 由 Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio

    出版 2013
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  7. 7
    Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

    Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome 由 Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Clelia Amato, Valentina Quarantotti, Ilaria Maria Rizzo, Ian D. Krantz, Steve Bilodeau, Antonio Musio

    出版 2015
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  8. 8
    A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity

    A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity 由 Patrizia Morciano, Chiara Carrisi, Loredana Capobianco, Linda Mannini, Giosalba Burgio, Gianluca Cestra, Giuseppe Egidio De Benedetto, Davide Corona, Antonio Musio, Giovanni Cenci

    出版 2009
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  9. 9
    Pathogenic variants in <scp><i>EP300</i></scp> and <scp><i>ANKRD11</i></scp> in patients with phenotypes overlapping Cornelia de Lange syndrome

    Pathogenic variants in <scp><i>EP300</i></scp> and <scp><i>ANKRD11</i></scp> in patients with phenotypes overlapping Cornelia de Lange syndrome 由 Francesco Cucco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, Beatriz Puisac, Feliciano J. Ramos, Juan Pié, Antonio Musio

    出版 2020
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  10. 10
    p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway

    p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway 由 Claudia Contadini, Laura Monteonofrio, Ilaria Virdia, Andrea Prodosmo, Davide Valente, Luciana Chessa, Antonio Musio, Luca L. Fava, Cinzia Rinaldo, Giuliana Di Rocco, Silvia Soddu

    出版 2019
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  11. 11
    SMC1 involvement in fragile site expression

    SMC1 involvement in fragile site expression 由 Antonio Musio, Cristina Montagna, Tullio Mariani, Manuela Tilenni, Maria Luisa Focarelli, Lorenzo Brait, Esterina Indino, Pier Alberto Benedetti, Luciana Chessa, Alberto Albertini, Thomas Ried, Paolo Vezzoni

    出版 2005
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  12. 12
    Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

    Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA 由 Ekaterina Revenkova, Maria Luisa Focarelli, S. P. Lucia, Marianna Paulis, Maria Teresa Bassi, Linda Mannini, Annalisa Frattini, Domenico Delia, Ian D. Krantz, Paolo Vezzoni, Rolf Jessberger, Antonio Musio

    出版 2008
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  13. 13
    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases 由 Samantha A. Schrier, Joann Bodurtha, Barbara K. Burton, Albert E. Chudley, Mary Anne D. Chiong, M D'Avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez‐Lara, Stavit A. Shalev, Matthew A. Deardorff

    出版 2012
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  14. 14
    Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

    Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development 由 Patrizia Sarogni, Orazio Palumbo, Adele Servadio, Simonetta Astigiano, Barbara D’Alessio, Veronica Gatti, Dubravka Cukrov, Silvia Baldari, Maria Michela Pallotta, Paolo Aretini, Felice Dell’Orletta⋄, Silvia Soddu, Massimo Carella, Gabriele Toietta, Ottavia Barbieri, Gabriella Fontanini, Antonio Musio

    出版 2019
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  15. 15
    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes 由 Ana Latorre, Ángela Ascaso, Laura Trujillano, Marta Gil‐Salvador, María Arnedo, Cristina Lucia‐Campos, Rebeca Antoñanzas-Pérez, Íñigo Marcos‐Alcalde, Ilaria Parenti, Gloria Bueno, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez‐Puertas, Juan Pié

    出版 2020
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  16. 16
    Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

    Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation 由 Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, K Lillquist, Victoria Mok Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz

    出版 2007
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  17. 17
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance 由 Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    出版 2014
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