CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cells
Guercio, Marika, Orlando, Domenico, Di Cecca, Stefano, Sinibaldi, Matilde, Boffa, Iolanda, Caruso, Simona, Abbaszadeh, Zeinab, Camera, Antonio, Cembrola, Biancamaria, Bovetti, Katia, Manni, Simona, Caruana, Ignazio, Ciccone, Roselia, Del Bufalo, Francesca, Merli, Pietro, Vinti, Luciana, Girardi, Katia, Ruggeri, Annalisa, De Stefanis, Cristiano, Pezzullo, Marco, Giorda, Ezio, Scarsella, Marco, De Vito, Rita, Barresi, Sabina, Ciolfi, Andrea, Tartaglia, Marco, Moretta, Lorenzo, Locatelli, Franco, Quintarelli, Concetta, De Angelis, Biagio
Published in Haematologica (Roma) (01.04.2021)
Published in Haematologica (Roma) (01.04.2021)
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CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells
Manic, Gwenola, Signore, Michele, Sistigu, Antonella, Russo, Giorgio, Corradi, Francesca, Siteni, Silvia, Musella, Martina, Vitale, Sara, De Angelis, Maria Laura, Pallocca, Matteo, Amoreo, Carla Azzurra, Sperati, Francesca, Di Franco, Simone, Barresi, Sabina, Policicchio, Eleonora, De Luca, Gabriele, De Nicola, Francesca, Mottolese, Marcella, Zeuner, Ann, Fanciulli, Maurizio, Stassi, Giorgio, Maugeri-Saccà, Marcello, Baiocchi, Marta, Tartaglia, Marco, Vitale, Ilio, De Maria, Ruggero
Published in Gut (01.05.2018)
Published in Gut (01.05.2018)
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Angioimmunoblastic T-Cell Lymphoma with Exuberant CD30-Positive Follicular Dendritic Cell Proliferation in a SARS-CoV-2 Patient: The Role of Mutational Analysis to Exclude an Associated Follicular Dendritic Cell Sarcoma
Rogges, Evelina, Pelliccia, Sabrina, Lopez, Gianluca, Barresi, Sabina, Tafuri, Agostino, Alaggio, Rita, Di Napoli, Arianna
Published in International journal of molecular sciences (01.08.2022)
Published in International journal of molecular sciences (01.08.2022)
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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect
Del Baldo, Giada, Mastronuzzi, Angela, Cipri, Selene, Agolini, Emanuele, Matraxia, Marta, Novelli, Antonio, Cacchione, Antonella, Serra, Annalisa, Carai, Andrea, Boccuto, Luigi, Colafati, Giovanna Stefania, Di Paolo, Pier Luigi, Miele, Evelina, Barresi, Sabina, Alaggio, Rita, Rossi, Sabrina, Giovannoni, Isabella
Published in Scientific reports (13.09.2024)
Published in Scientific reports (13.09.2024)
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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis
Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M, Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto
Published in Proceedings of the National Academy of Sciences - PNAS (04.09.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (04.09.2012)
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, Nicita, Francesco
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors
Barresi, Valeria, Cardoni, Antonello, Miele, Evelina, Pedace, Lucia, Masotto, Barbara, Nardini, Claudia, Barresi, Sabina, Rossi, Sabrina
Published in Acta neuropathologica communications (12.01.2024)
Published in Acta neuropathologica communications (12.01.2024)
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Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency
Dentici, Maria Lisa, Barresi, Sabina, Niceta, Marcello, Pantaleoni, Francesca, Pizzi, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Digilio, Maria Cristina
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation
Zanni, Ginevra, Nardella, Marta, Barresi, Sabina, Bellacchio, Emanuele, Niceta, Marcello, Ciolfi, Andrea, Pro, Stefano, D'Arrigo, Stefano, Tartaglia, Marco, Bertini, Enrico
Published in Brain (London, England : 1878) (01.06.2017)
Published in Brain (London, England : 1878) (01.06.2017)
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Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations
Friman, Vanda, Quinti, Isabella, Davydov, Alexey N., Shugay, Mikhail, Farroni, Chiara, Engström, Erik, Pour Akaber, Shirin, Barresi, Sabina, Mohamed, Ahmed, Pulvirenti, Federica, Milito, Cinzia, Granata, Guido, Giorda, Ezio, Ahlström, Sara, Karlsson, Johanna, Marasco, Emiliano, Marcellini, Valentina, Bocci, Chiara, Cascioli, Simona, Scarsella, Marco, Phad, Ganesh, Tilevik, Andreas, Tartaglia, Marco, Bemark, Mats, Chudakov, Dmitriy M., Carsetti, Rita, Grimsholm, Ola
Published in Cell reports (Cambridge) (30.05.2023)
Published in Cell reports (Cambridge) (30.05.2023)
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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco
Published in BMC pediatrics (12.03.2020)
Published in BMC pediatrics (12.03.2020)
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Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
Salzano, Emanuela, Niceta, Marcello, Pizzi, Simone, Radio, Francesca Clementina, Busè, Martina, Mercadante, Francesca, Barresi, Sabina, Ferrara, Arturo, Mancini, Cecilia, Tartaglia, Marco, Piccione, Maria
Published in Frontiers in neurology (07.02.2023)
Published in Frontiers in neurology (07.02.2023)
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Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
d'Amati, Antonio, Gianno, Francesca, Scuccimarri, Luciana, Lastilla, Michele, Messina, Raffaella, Signorelli, Francesco, Zimatore, Domenico Sergio, Barresi, Sabina, Miele, Evelina, Alaggio, Rita, Rossi, Sabrina, Maiorano, Eugenio, Ingravallo, Giuseppe, Giangaspero, Felice, Antonelli, Manila
Published in Acta neuropathologica communications (13.06.2023)
Published in Acta neuropathologica communications (13.06.2023)
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Quantification of tumour-infiltrating immune cells through deconvolution of DNA methylation data in Ewing sarcomas
Sara Patrizi, Silvia Vallese, Lucia Pedace, Claudia Nardini, Alessandra Stracuzzi, Sabina Barresi, Isabella Giovannoni, Luana Abballe, Celeste Antonacci, Ida Russo, Angela Di Giannatale, Rita Alaggio, Franco Locatelli, Giuseppe Maria Milano, Evelina Miele
Published in Frontiers in Epigenetics and Epigenomics (04.09.2024)
Published in Frontiers in Epigenetics and Epigenomics (04.09.2024)
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Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population
Patrizi, Sara, Miele, Evelina, Falcone, Lorenza, Vallese, Silvia, Rossi, Sabrina, Barresi, Sabina, Giovannoni, Isabella, Pedace, Lucia, Nardini, Claudia, Masier, Ilaria, Abballe, Luana, Cacchione, Antonella, Russo, Ida, Di Giannatale, Angela, Di Ruscio, Valentina, Salgado, Claudia Maria, Mastronuzzi, Angela, Ciolfi, Andrea, Tartaglia, Marco, Milano, Giuseppe Maria, Locatelli, Franco, Alaggio, Rita
Published in Clinical epigenetics (04.01.2024)
Published in Clinical epigenetics (04.01.2024)
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TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
Niceta, Marcello, Barresi, Sabina, Pantaleoni, Francesca, Capolino, Rossella, Dentici, Maria Lisa, Ciolfi, Andrea, Pizzi, Simone, Bartuli, Andrea, Dallapiccola, Bruno, Tartaglia, Marco, Digilio, Maria Cristina
Published in European journal of medical genetics (01.06.2019)
Published in European journal of medical genetics (01.06.2019)
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, de Villemeur, Thierry Billette, Rodriguez, Diana
Published in Orphanet journal of rare diseases (27.03.2012)
Published in Orphanet journal of rare diseases (27.03.2012)
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Molecular Landscape in Infant High-Grade Gliomas: A Single Center Experience
Di Ruscio, Valentina, Carai, Andrea, Del Baldo, Giada, Vinci, Maria, Cacchione, Antonella, Miele, Evelina, Rossi, Sabrina, Antonelli, Manila, Barresi, Sabina, Caulo, Massimo, Colafati, Giovanna Stefania, Mastronuzzi, Angela
Published in Diagnostics (Basel) (01.02.2022)
Published in Diagnostics (Basel) (01.02.2022)
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A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy
D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico
Published in Frontiers in genetics (18.09.2020)
Published in Frontiers in genetics (18.09.2020)
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Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases
El Hachem, May, Barresi, Sabina, Diociaiuti, Andrea, Boldrini, Renata, Giuseppe Condorelli, Angelo, Capoluongo, Ettore, Proto, Vittoria, Scuvera, Giulietta, Has, Cristina, Tartaglia, Marco, Castiglia, Daniele
Published in Acta dermato-venereologica (01.02.2019)
Published in Acta dermato-venereologica (01.02.2019)
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