Works by Riccio, Andrea


Results: 68
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    Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.

    Published in:
    Genes, 2024, v. 15, n. 3, p. 321, doi. 10.3390/genes15030321
    By:
    • Cillo, Francesca;
    • Coppola, Emma;
    • Habetswallner, Federico;
    • Cecere, Francesco;
    • Pignata, Laura;
    • Toriello, Elisabetta;
    • De Rosa, Antonio;
    • Grilli, Laura;
    • Ammendola, Antonio;
    • Salerno, Paolo;
    • Romano, Roberta;
    • Cirillo, Emilia;
    • Merla, Giuseppe;
    • Riccio, Andrea;
    • Pignata, Claudio;
    • Giardino, Giuliana
    Publication type:
    Article
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    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
    By:
    • Bliek, Jet;
    • Verde, Gaetano;
    • Callaway, Jonathan;
    • Maas, Saskia M.;
    • De Crescenzo, Agostina;
    • Sparago, Angela;
    • Cerrato, Flavia;
    • Russo, Silvia;
    • Ferraiuolo, Serena;
    • Rinaldi, Maria Michela;
    • Fischetto, Rita;
    • Lalatta, Faustina;
    • Giordano, Lucio;
    • Ferrari, Paola;
    • Cubellis, Maria Vittoria;
    • Larizza, Lidia;
    • Temple, I. Karen;
    • Mannens, Marcel M. A. M.;
    • Mackay, Deborah J. G.;
    • Riccio, Andrea
    Publication type:
    Article
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    Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1025, doi. 10.1038/sj.ejhg.5201463
    By:
    • Cooper, Wendy N;
    • Luharia, Anita;
    • Evans, Gail A;
    • Raza, Hussain;
    • Haire, Antonita C;
    • Grundy, Richard;
    • Bowdin, Sarah C;
    • Riccio, Andrea;
    • Sebastio, Gianfranco;
    • Bliek, Jet;
    • Schofield, Paul N;
    • Reik, Wolf;
    • Macdonald, Fiona;
    • Maher, Eamonn R
    Publication type:
    Article
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    Gain of function in CDKN1C.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 737, doi. 10.1038/ng.2336
    By:
    • Riccio, Andrea;
    • Cubellis, Maria Vittoria
    Publication type:
    Article
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    The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 3, p. 544, doi. 10.1093/hmg/dds465
    By:
    • Beygo, Jasmin;
    • Citro, Valentina;
    • Sparago, Angela;
    • De Crescenzo, Agostina;
    • Cerrato, Flavia;
    • Heitmann, Melanie;
    • Rademacher, Katrin;
    • Guala, Andrea;
    • Enklaar, Thorsten;
    • Anichini, Cecilia;
    • Cirillo Silengo, Margherita;
    • Graf, Notker;
    • Prawitt, Dirk;
    • Cubellis, Maria Vittoria;
    • Horsthemke, Bernhard;
    • Buiting, Karin;
    • Riccio, Andrea
    Publication type:
    Article
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    Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 182, doi. 10.1002/ajmg.a.36191
    By:
    • Cappuccio, Gerarda;
    • De Crescenzo, Agostina;
    • Ciancia, Giuseppe;
    • Canta, Luigi;
    • Moio, Marzia;
    • Mataro, Ilaria;
    • Varone, Valeria;
    • Pettinato, Guido;
    • Palumbo, Orazio;
    • Carella, Massimo;
    • Riccio, Andrea;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
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    Prevalence of beckwith-wiedemann syndrome in North West of Italy.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080
    By:
    • Mussa, Alessandro;
    • Russo, Silvia;
    • De Crescenzo, Agostina;
    • Chiesa, Nicoletta;
    • Molinatto, Cristina;
    • Selicorni, Angelo;
    • Richiardi, Lorenzo;
    • Larizza, Lidia;
    • Silengo, Margherita Cirillo;
    • Riccio, Andrea;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
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    The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 1, p. 10, doi. 10.1093/hmg/ddr419
    By:
    • Chiesa, Nicoletta;
    • De Crescenzo, Agostina;
    • Mishra, Kankadeb;
    • Perone, Lucia;
    • Carella, Massimo;
    • Palumbo, Orazio;
    • Mussa, Alessandro;
    • Sparago, Angela;
    • Cerrato, Flavia;
    • Russo, Silvia;
    • Lapi, Elisabetta;
    • Cubellis, Maria Vittoria;
    • Kanduri, Chandrasekhar;
    • Cirillo Silengo, Margherita;
    • Riccio, Andrea;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
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    Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 10, p. 1427, doi. 10.1093/hmg/ddn031
    By:
    • Cerrato, Flavia;
    • Sparago, Angela;
    • Verde, Gaetano;
    • De Crescenzo, Agostina;
    • Citro, Valentina;
    • Cubellis, Maria Vittoria;
    • Rinaldi, Maria Michela;
    • Boccuto, Luigi;
    • Neri, Giovanni;
    • Magnani, Cinzia;
    • D'Angelo, Paolo;
    • Collini, Paola;
    • Perotti, Daniela;
    • Sebastio, Gianfranco;
    • Maher, Eamonn R.;
    • Riccio, Andrea
    Publication type:
    Article
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    Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer.

    Published in:
    Cancers, 2023, v. 15, n. 7, p. 1944, doi. 10.3390/cancers15071944
    By:
    • Cecere, Francesco;
    • Pignata, Laura;
    • Hay Mele, Bruno;
    • Saadat, Abu;
    • D'Angelo, Emilia;
    • Palumbo, Orazio;
    • Palumbo, Pietro;
    • Carella, Massimo;
    • Scarano, Gioacchino;
    • Rossi, Giovanni Battista;
    • Angelini, Claudia;
    • Sparago, Angela;
    • Cerrato, Flavia;
    • Riccio, Andrea
    Publication type:
    Article
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    Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

    Published in:
    Cancers, 2023, v. 15, n. 3, p. 773, doi. 10.3390/cancers15030773
    By:
    • Luca, Maria;
    • Carli, Diana;
    • Cardaropoli, Simona;
    • Milani, Donatella;
    • Cocchi, Guido;
    • Leoni, Chiara;
    • Macchiaiolo, Marina;
    • Bartuli, Andrea;
    • Tarani, Luigi;
    • Melis, Daniela;
    • Bontempo, Piera;
    • D'Elia, Gemma;
    • Prada, Elisabetta;
    • Vitale, Raffaele;
    • Grammegna, Angelina;
    • Tannorella, Pierpaola;
    • Sparago, Angela;
    • Pignata, Laura;
    • Riccio, Andrea;
    • Russo, Silvia
    Publication type:
    Article
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    Looking for CDKN1C enhancers.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 442, doi. 10.1038/ejhg.2013.234
    By:
    • Cerrato, Flavia;
    • De Crescenzo, Agostina;
    • Riccio, Andrea
    Publication type:
    Article
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    Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132
    By:
    • Eggermann, Thomas;
    • Algar, Elizabeth;
    • Lapunzina, Pablo;
    • Mackay, Deborah;
    • Maher, Eamonn R;
    • Mannens, Marcel;
    • Netchine, Irène;
    • Prawitt, Dirk;
    • Riccio, Andrea;
    • Temple, I Karen;
    • Weksberg, Rosanna
    Publication type:
    Article
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