Works by Novelli, Antonio

Results: 242
    1

    TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6
    By:
    • Saier, Christina;
    • Sansen, Stefaan;
    • Berghout, Joanne;
    • Freyler, Kathrin;
    • Einhorn, Moshe;
    • Einhorn, Yaron;
    • Matalonga, Leslie;
    • Beltran, Sergi;
    • Novelli, Antonio;
    • Selvatici, Rita;
    • Fortunato, Fernanda;
    • Montanari, Silvia;
    • Martinez-Fresno, Maria;
    • Gumus, Gulcin;
    • Agolini, Emanuele;
    • Garnier, Nicolas;
    • Ferlini, Alessandra;
    • Bertini, Enrico;
    • Kirschner, Janbernd
    Publication type:
    Article
    2
    3

    MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64010
    By:
    • Dominicis, Angela De;
    • Sparascio, Francesca Piceci;
    • Stregapede, Fabrizia;
    • Terracciano, Alessandra;
    • Verrigni, Daniela;
    • Lepri, Francesca Romana;
    • Cetola, Sarah;
    • Dentici, Maria Lisa;
    • Vigevano, Federico;
    • Novelli, Antonio;
    • Specchio, Nicola;
    • Trivisano, Marina;
    • Digilio, Maria Cristina
    Publication type:
    Article
    4

    Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.

    Published in:
    2023
    By:
    • Rapini, Novella;
    • Patera, Patrizia I.;
    • Schiaffini, Riccardo;
    • Ciampalini, Paolo;
    • Pampanini, Valentina;
    • Cristina, Matteoli M.;
    • Deodati, Annalisa;
    • Bracaglia, Giorgia;
    • Porzio, Ottavia;
    • Ruta, Rosario;
    • Novelli, Antonio;
    • Mucciolo, Mafalda;
    • Cianfarani, Stefano;
    • Barbetti, Fabrizio
    Publication type:
    Correction Notice
    5

    Monogenic diabetes clinic (MDC): 3-year experience.

    Published in:
    Acta Diabetologica, 2023, v. 60, n. 1, p. 61, doi. 10.1007/s00592-022-01972-2
    By:
    • Rapini, Novella;
    • Patera, Patrizia I.;
    • Schiaffini, Riccardo;
    • Ciampalini, Paolo;
    • Pampanini, Valentina;
    • Cristina, Matteoli M.;
    • Deodati, Annalisa;
    • Bracaglia, Giorgia;
    • Porzio, Ottavia;
    • Ruta, Rosario;
    • Novelli, Antonio;
    • Mucciolo, Mafalda;
    • Cianfarani, Stefano;
    • Barbetti, Fabrizio
    Publication type:
    Article
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16

    Expression analysis of miRNA hsa‐let7b‐5p in naso‐oropharyngeal swabs of COVID‐19 patients supports its role in regulating ACE2 and DPP4 receptors.

    Published in:
    Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 19, p. 4940, doi. 10.1111/jcmm.17492
    By:
    • Latini, Andrea;
    • Vancheri, Chiara;
    • Amati, Francesca;
    • Morini, Elena;
    • Grelli, Sandro;
    • Claudia, Matteucci;
    • Vita, Petrone;
    • Colona, Vito Luigi;
    • Murdocca, Michela;
    • Andreoni, Massimo;
    • Malagnino, Vincenzo;
    • Raponi, Massimiliano;
    • Cocciadiferro, Dario;
    • Novelli, Antonio;
    • Borgiani, Paola;
    • Novelli, Giuseppe
    Publication type:
    Article
    17

    Spectrum of epilepsy in terminal 1p36 deletion syndrome.

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
    By:
    • Bahi-Buisson, Nadia;
    • Guttierrez-Delicado, Eva;
    • Soufflet, Christine;
    • Rio, Marlène;
    • Cormier Daire, Valérie;
    • Lacombe, Didier;
    • Héron, Delphine;
    • Verloes, Alain;
    • Zuberi, Sameer;
    • Burglen, Lydie;
    • Afenjar, Alexandra;
    • Moutard, Marie Laure;
    • Edery, Patrick;
    • Novelli, Antonio;
    • Bernardini, Laura;
    • Dulac, Olivier;
    • Nabbout, Rima;
    • Plouin, Perrine;
    • Battaglia, Agatino
    Publication type:
    Article
    18
    19

    Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.

    Published in:
    Human Mutation, 2021, v. 42, n. 5, p. 506, doi. 10.1002/humu.24179
    By:
    • Beecroft, Sarah J.;
    • Ayala, Marcos;
    • McGillivray, George;
    • Nanda, Vikas;
    • Agolini, Emanuele;
    • Novelli, Antonio;
    • Digilio, Maria C.;
    • Dotta, Andrea;
    • Carrozzo, Rosalba;
    • Clayton, Joshua;
    • Gaffney, Lydia;
    • McLean, Catriona A.;
    • Ng, Jessica;
    • Laing, Nigel G.;
    • Matteson, Paul;
    • Millonig, James;
    • Ravenscroft, Gianina
    Publication type:
    Article
    20
    21
    22
    23
    24
    25

    Novel clinical features associated with Clouston syndrome.

    Published in:
    International Journal of Dermatology, 2019, v. 58, n. 8, p. e143, doi. 10.1111/ijd.14507
    By:
    • Cammarata-Scalisi, Francisco;
    • Rinelli, Martina;
    • Pisaneschi, Elisa;
    • Diociaiuti, Andrea;
    • Willoughby, Colin E.;
    • Avendaño, Andrea;
    • Digilio, Maria C.;
    • Novelli, Antonio;
    • Callea, Michele
    Publication type:
    Article
    26
    27

    Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia.

    Published in:
    Cell Death & Disease, 2021, v. 12, n. 8, p. 1, doi. 10.1038/s41419-021-04058-z
    By:
    • Mauriello, Alessandro;
    • Scimeca, Manuel;
    • Amelio, Ivano;
    • Massoud, Renato;
    • Novelli, Antonio;
    • Di Lorenzo, Francesca;
    • Finocchiaro, Susanna;
    • Cimino, Carolina;
    • Telesca, Rossana;
    • Chiocchi, Marcello;
    • Sun, Qiang;
    • Wang, Ying;
    • Shi, Yufang;
    • Novelli, Giuseppe;
    • Melino, Gerry
    Publication type:
    Article
    28

    Inhibition of HECT E3 ligases as potential therapy for COVID-19.

    Published in:
    Cell Death & Disease, 2021, v. 12, n. 4, p. 1, doi. 10.1038/s41419-021-03513-1
    By:
    • Novelli, Giuseppe;
    • Liu, Jing;
    • Biancolella, Michela;
    • Alonzi, Tonino;
    • Novelli, Antonio;
    • Patten, J. J.;
    • Cocciadiferro, Dario;
    • Agolini, Emanuele;
    • Colona, Vito Luigi;
    • Rizzacasa, Barbara;
    • Giannini, Rosalinda;
    • Bigio, Benedetta;
    • Goletti, Delia;
    • Capobianchi, Maria Rosaria;
    • Grelli, Sandro;
    • Mann, Justin;
    • McKee, Trevor D.;
    • Cheng, Ke;
    • Amanat, Fatima;
    • Krammer, Florian
    Publication type:
    Article
    29

    WWP1 germline variants are associated with normocephalic autism spectrum disorder.

    Published in:
    Cell Death & Disease, 2020, v. 11, n. 7, p. 1, doi. 10.1038/s41419-020-2681-z
    By:
    • Novelli, Giuseppe;
    • Novelli, Antonio;
    • Borgiani, Paola;
    • Cocciadiferro, Dario;
    • Biancolella, Michela;
    • Agolini, Emanuele;
    • Pietrosanto, Marco;
    • Casalone, Rosario;
    • Helmer-Citterich, Manuela;
    • Giardina, Emiliano;
    • Jain, Suresh K.;
    • Wei, Wenyi;
    • Eng, Charis;
    • Pandolfi, Pier Paolo
    Publication type:
    Article
    30

    The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

    Published in:
    Annali dell'Istituto Superiore di Sanita, 2018, v. 54, n. 2, p. 109, doi. 10.4415/ANN_18_02_06
    By:
    • de Stefano, Maria Chiara;
    • Floridia, Giovanna;
    • Censi, Federica;
    • Tosto, Fabrizio;
    • Salvatore, Marco;
    • Civolani, Alessandro;
    • Crescenzi, Barbara;
    • Giardino, Daniela;
    • Lenzini, Elisabetta;
    • Lisi, Ermanna;
    • Lonardo, Fortunato;
    • Mancini, Marco;
    • Novelli, Antonio;
    • Piombo, Giuseppe;
    • Stioui, Sabine;
    • Taruscio, Domenica
    Publication type:
    Article
    31
    32
    33

    Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 7, p. e71, doi. 10.1111/epi.16582
    By:
    • Trivisano, Marina;
    • Ferretti, Alessandro;
    • Bebin, Elizabeth;
    • Huh, Linda;
    • Lesca, Gaetan;
    • Siekierska, Aleksandra;
    • Takeguchi, Ryo;
    • Carneiro, Maryline;
    • De Palma, Luca;
    • Guella, Ilaria;
    • Haginoya, Kazuhiro;
    • Shi, Ruo Ming;
    • Kikuchi, Atsuo;
    • Kobayashi, Tomoko;
    • Jung, Julien;
    • Lagae, Lieven;
    • Milh, Mathieu;
    • Mathieu, Marie L.;
    • Minassian, Berge A.;
    • Novelli, Antonio
    Publication type:
    Article
    34
    35

    Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

    Published in:
    Molecular Medicine, 2018, v. 24, n. 1, p. N.PAG, doi. 10.1186/s10020-018-0041-6
    By:
    • Sofia, Valentina Maria;
    • Surace, Cecilia;
    • Terlizzi, Vito;
    • Da Sacco, Letizia;
    • Alghisi, Federico;
    • Angiolillo, Antonella;
    • Braggion, Cesare;
    • Cirilli, Natalia;
    • Colombo, Carla;
    • Di Lullo, Antonella;
    • Padoan, Rita;
    • Quattrucci, Serena;
    • Raia, Valeria;
    • Tuccio, Giuseppe;
    • Zarrilli, Federica;
    • Tomaiuolo, Anna Cristina;
    • Novelli, Antonio;
    • Lucidi, Vincenzina;
    • Lucarelli, Marco;
    • Castaldo, Giuseppe
    Publication type:
    Article
    36

    Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.

    Published in:
    Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 10, p. 332, doi. 10.3390/jcdd9100332
    By:
    • Baban, Anwar;
    • Alesi, Viola;
    • Magliozzi, Monia;
    • Parlapiano, Giovanni;
    • Genovese, Silvia;
    • Cicenia, Marianna;
    • Loddo, Sara;
    • Lodato, Valentina;
    • Di Chiara, Luca;
    • Fattori, Fabiana;
    • D'Amico, Adele;
    • Francalanci, Paola;
    • Amodeo, Antonio;
    • Novelli, Antonio;
    • Drago, Fabrizio
    Publication type:
    Article
    37
    38

    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
    39
    40
    41
    42
    43
    44

    Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0066-2
    By:
    • Pietropolli, Adalgisa;
    • Capogna, Maria Vittoria;
    • Cascella, Raffaella;
    • Germani, Chiara;
    • Bruno, Valentina;
    • Strafella, Claudia;
    • Sarta, Simona;
    • Ticconi, Carlo;
    • Marmo, Giusy;
    • Gallaro, Sara;
    • Longo, Giuliana;
    • Marsella, Luigi Tonino;
    • Novelli, Antonio;
    • Novelli, Giuseppe;
    • Piccione, Emilio;
    • Giardina, Emiliano
    Publication type:
    Article
    45
    46
    47
    48

    A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

    Published in:
    Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0440-6
    By:
    • Restaldi, Fabrizia;
    • Alesi, Viola;
    • Aquilani, Angela;
    • Genovese, Silvia;
    • Russo, Serena;
    • Coletti, Valentina;
    • Pompili, Daniele;
    • Falasca, Roberto;
    • Dallapiccola, Bruno;
    • Capolino, Rossella;
    • Luciani, Matteo;
    • Novelli, Antonio
    Publication type:
    Article
    49
    50