Works by Romano, Ferruccio

Results: 11
    1

    Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
    By:
    • Romano, Ferruccio;
    • Haanpää, Maria K.;
    • Pomianowski, Pawel;
    • Peraino, Amanda Rose;
    • Pollard, John R.;
    • Di Feo, Maria Francesca;
    • Traverso, Monica;
    • Severino, Mariasavina;
    • Derchi, Maria;
    • Henzen, Edoardo;
    • Zara, Federico;
    • Faravelli, Francesca;
    • Capra, Valeria;
    • Scala, Marcello
    Publication type:
    Article
    2
    3

    Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 1, p. 83, doi. 10.1111/cge.14621
    By:
    • Nosrati, Mohammad Sadegh Shams;
    • Doustmohammadi, Alireza;
    • Severino, Mariasavina;
    • Romano, Ferruccio;
    • Zafari, Mahdi;
    • Nemati, Amir Hesam;
    • Velmans, Clara;
    • Netzer, Christian;
    • Breuer, Jonas;
    • Broekaert, Ilse Julia;
    • Joachim, Alexander;
    • Almasri, Nihad;
    • Kruer, Michael C.;
    • Skidmore, Peter;
    • Bisarad, Pritha;
    • Hoque, Jumana;
    • Bakhtiari, Somayeh;
    • Torella, Annalaura;
    • Nigro, Vincenzo;
    • Buffelli, Francesca
    Publication type:
    Article
    4

    Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

    Published in:
    Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
    By:
    • Ognibene, Marzia;
    • Scala, Marcello;
    • Iacomino, Michele;
    • Schiavetti, Irene;
    • Madia, Francesca;
    • Traverso, Monica;
    • Guerrisi, Sara;
    • Di Duca, Marco;
    • Caroli, Francesco;
    • Baldassari, Simona;
    • Tappino, Barbara;
    • Romano, Ferruccio;
    • Uva, Paolo;
    • Vozzi, Diego;
    • Chelleri, Cristina;
    • Piatelli, Gianluca;
    • Diana, Maria Cristina;
    • Zara, Federico;
    • Capra, Valeria;
    • Pavanello, Marco
    Publication type:
    Article
    5
    6

    Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.

    Published in:
    Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113
    By:
    • Romano, Ferruccio;
    • Madia, Francesca;
    • De Marco, Patrizia;
    • Ognibene, Marzia;
    • Guerrisi, Sara;
    • Scala, Marcello;
    • Iacomino, Michele;
    • Baldassari, Simona;
    • Vercellino, Nadia;
    • Manunza, Francesca;
    • Tallone, Ramona;
    • Pavanello, Marco;
    • Piatelli, Gianluca;
    • Garaventa, Alberto;
    • Zara, Federico;
    • Capra, Valeria
    Publication type:
    Article
    7

    Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.

    Published in:
    Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
    By:
    • Romano, Ferruccio;
    • Falco, Mariateresa;
    • Cappuccio, Gerarda;
    • Brunetti‐Pierri, Nicola;
    • Lonardo, Fortunato;
    • Torella, Annalaura;
    • Digilio, Maria Cristina;
    • Dentici, Maria Lisa;
    • Alfieri, Paolo;
    • Agolini, Emanuele;
    • Novelli, Antonio;
    • Garavelli, Livia;
    • Accogli, Andrea;
    • Striano, Pasquale;
    • Scarano, Gioacchino;
    • Nigro, Vincenzo;
    • Scala, Marcello;
    • Capra, Valeria
    Publication type:
    Article
    8
    9
    10
    11