Resultados da busca - Antonio Musio

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  1. 1
    The multiple facets of the SMC1A gene

    The multiple facets of the SMC1A gene por Antonio Musio

    Publicado em 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 por Linda Mannini, Stefania Menga, Antonio Musio

    Publicado em 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 por Patrizia Sarogni, Maria Michela Pallotta, Antonio Musio

    Publicado em 2019
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  4. 4
    The multifaceted roles of cohesin in cancer

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

    Publicado em 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 por Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    Publicado em 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 por Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio

    Publicado em 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 por Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Clelia Amato, Valentina Quarantotti, Ilaria Maria Rizzo, Ian D. Krantz, Steve Bilodeau, Antonio Musio

    Publicado em 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 por Patrizia Morciano, Chiara Carrisi, Loredana Capobianco, Linda Mannini, Giosalba Burgio, Gianluca Cestra, Giuseppe Egidio De Benedetto, Davide Corona, Antonio Musio, Giovanni Cenci

    Publicado em 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 por Francesco Cucco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, Beatriz Puisac, Feliciano J. Ramos, Juan Pié, Antonio Musio

    Publicado em 2020
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  10. 10
    SMC1 involvement in fragile site expression

    SMC1 involvement in fragile site expression por 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

    Publicado em 2005
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  11. 11
    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 por 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

    Publicado em 2008
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  12. 12
    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 por 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

    Publicado em 2012
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  13. 13
    Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

    Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development por 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

    Publicado em 2019
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  14. 14
    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 por 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

    Publicado em 2020
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  15. 15
    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 por 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

    Publicado em 2007
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  16. 16
    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 por 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

    Publicado em 2014
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