Found: 7

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  • Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 936, doi. 10.3390/brainsci11070936
    By:
    • Valentino, Floriana;
    • Bruno, Lucia Pia;
    • Doddato, Gabriella;
    • Giliberti, Annarita;
    • Tita, Rossella;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Bruttini, Mirella;
    • Lo Rizzo, Caterina;
    • Mencarelli, Maria Antonietta;
    • Mari, Francesca;
    • Pinto, Anna Maria;
    • Fava, Francesca;
    • Baldassarri, Margherita;
    • Fabbiani, Alessandra;
    • Lamacchia, Vittoria;
    • Benetti, Elisa;
    • Zguro, Kristina;
    • Furini, Simone;
    • Renieri, Alessandra
    Publication type:
    Article

  • Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.

    Published in:
    Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.649435
    By:
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Papa, Filomena Tiziana;
    • Tita, Rossella;
    • Bruno, Lucia Pia;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Benetti, Elisa;
    • Palmieri, Maria;
    • Mencarelli, Maria Antonietta;
    • Fabbiani, Alessandra;
    • Bruttini, Mirella;
    • Orrico, Alfredo;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Lopergolo, Diego;
    • Lo Rizzo, Caterina;
    • Lamacchia, Vittoria;
    • Mannucci, Sara
    Publication type:
    Article

  • Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network.

    Published in:
    Mediators of Inflammation, 2020, p. 1, doi. 10.1155/2020/1936960
    By:
    • Vitale, Antonio;
    • Sota, Jurgen;
    • Obici, Laura;
    • Ricco, Nicola;
    • Maggio, Maria Cristina;
    • Cattalini, Marco;
    • Ruscitti, Piero;
    • Caso, Francesco;
    • Manna, Raffaele;
    • Viapiana, Ombretta;
    • Caggiano, Valeria;
    • Emmi, Giacomo;
    • Insalaco, Antonella;
    • Montin, Davide;
    • Licciardi, Francesco;
    • Soriano, Alessandra;
    • Dagna, Lorenzo;
    • Salvarani, Carlo;
    • Lamacchia, Vittoria;
    • Hernández-Rodríguez, José
    Publication type:
    Article

  • New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13439, doi. 10.3390/ijms222413439
    By:
    • Bruno, Lucia Pia;
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Baldassarri, Margherita;
    • Tita, Rossella;
    • Fallerini, Chiara;
    • Bruttini, Mirella;
    • Lo Rizzo, Caterina;
    • Mencarelli, Maria Antonietta;
    • Mari, Francesca;
    • Pinto, Anna Maria;
    • Fava, Francesca;
    • Fabbiani, Alessandra;
    • Lamacchia, Vittoria;
    • Carrer, Anna;
    • Caputo, Valentina;
    • Granata, Stefania;
    • Benetti, Elisa;
    • Zguro, Kristina;
    • Furini, Simone
    Publication type:
    Article

  • IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

    Published in:
    Clinical Genetics, 2021, v. 99, n. 3, p. 462, doi. 10.1111/cge.13908
    By:
    • Lopergolo, Diego;
    • Privitera, Flavia;
    • Castello, Giuseppe;
    • Lo Rizzo, Caterina;
    • Mencarelli, Maria Antonietta;
    • Pinto, Anna Maria;
    • Ariani, Francesca;
    • Currò, Aurora;
    • Lamacchia, Vittoria;
    • Canitano, Roberto;
    • Vaghi, Elisabetta;
    • Ferrarini, Alessandra;
    • Baltodano, Gerardo Mejia;
    • Lederer, Damien;
    • Van Maldergem, Lionel;
    • Serrano, Mercedes;
    • Pineda, Mercè;
    • Fons‐Estupina, Maria Del Carmen;
    • Van Esch, Hilde;
    • Breckpot, Jeroen
    Publication type:
    Article

  • Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
    By:
    • Zollino, Marcella;
    • Marangi, Giuseppe;
    • Giurgea, Irina;
    • Whalen, Sandra;
    • Macchiaiolo, Marina;
    • Smigiel, Robert;
    • Thibert, Ronald L.;
    • Benoist, Ingrid;
    • Clayton‐Smith, Jill;
    • De Winter, Channa F.;
    • Deckers, Stijn;
    • Huisman, Sylvia;
    • Kruisinga, Frea;
    • Menke, Leonie;
    • Hennekam, Raoul C.;
    • Kempink, Dagmar;
    • Lamacchia, Vittoria;
    • Renieri, Alessandra;
    • Nordgren, Ann;
    • Routledge, Sue
    Publication type:
    Article

  • Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

    Published in:
    2021
    By:
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Papa, Filomena Tiziana;
    • Tita, Rossella;
    • Bruno, Lucia Pia;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Benetti, Elisa;
    • Palmieri, Maria;
    • Mencarelli, Maria Antonietta;
    • Fabbiani, Alessandra;
    • Bruttini, Mirella;
    • Orrico, Alfredo;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Lopergolo, Diego;
    • Rizzo, Caterina Lo;
    • Lamacchia, Vittoria;
    • Mannucci, Sara
    Publication type:
    Correction Notice