Pubblicazioni

MYB rearrangements and over-expression in T-cell acute lymphoblastic leukemia

2021 - GENES, CHROMOSOMES & CANCER

Bardelli, V.; Arniani, S.; Pierini, V.; Pierini, T.; Di Giacomo, D.; Gorello, P.; Moretti, M.; Pellanera, F.; Elia, L.; Vitale, A.; Storlazzi, C. T.; Tolomeo, D.; Mastrodicasa, E.; Caniglia, M.; Chiaretti, S.; Ruggeri, L.; Roti, G.; Schwab, C.; Harrison, C. J.; Almeida, A.; Pieters, T.; Van Vlierberghe, P.; Mecucci, C.; La Starza, R.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

2019 - MOVEMENT DISORDERS

Carecchio, M.; Invernizzi, F.; Gonzalez-Latapi, P.; Panteghini, C.; Zorzi, G.; Romito, L.; Leuzzi, V.; Galosi, S.; Reale, C.; Zibordi, F.; Joseph, A. P.; Topf, M.; Piano, C.; Bentivoglio, A. R.; Girotti, F.; Morana, P.; Morana, B.; Kurian, M. A.; Garavaglia, B.; Mencacci, N. E.; Lubbe, S. J.; Nardocci, N.

Mutations in the GLA gene and LysoGb3.Is it really anderson-fabry disease

2018 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Duro, G.; Zizzo, Corrado; Cammarata, G.; Burlina, A.; Burlina, A.; Polo, G.; Scalia, S.; Oliveri, Romano; Sciarrino, S.; Francofonte, D.; Alessandro, Riccardo; Pisani, A.; Palladino, G.; Napoletano, Rosa; Tenuta, M.; Masarone, D.; Limongelli, Giorgio; Riccio, E.; Frustaci, A.; Chimenti, C.; Ferri, C.; Pieruzzi, F.; Pieroni, M.; Spada, M.; Castana, C.; Caserta, M.; Monte, I.; Rodolico, M. S.; Feriozzi, S.; Battaglia, Y.; Amico, L.; Losi, M. A.; Autore, C.; Lombardi, M.; Zoccali, Camilla; Testa, A.; Postorino, M.; Mignani, Roberto; Zachara, E.; Giordano, A.; Colomba, P.

Molecular, pathological, radiological, and immune profiling of non-brainstem pediatric high-grade glioma from the HERBY phase II randomized trial

2018 - CANCER CELL

Mackay, A.; Burford, A.; Molinari, V.; Jones, D. T. W.; Izquierdo, E.; Brouwer-Visser, J.; Giangaspero, F.; Haberler, C.; Pietsch, T.; Jacques, T. S.; Figarella-Branger, D.; Rodriguez, D.; Morgan, P. S.; Raman, P.; Waanders, A. J.; Resnick, A. C.; Massimino, M.; Garre, M. L.; Smith, H.; Capper, D.; Pfister, S. M.; Wurdinger, T.; Tam, R.; Garcia, J.; Thakur, M. D.; Vassal, G.; Grill, J.; Jaspan, T.; Varlet, P.; Jones, C.

Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

2018 - NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Galuppini, F.; Opocher, E.; Tabori, U.; Mammi, I.; Edwards, M.; Campbell, B.; Kelly, J.; Viel, A.; Quaia, M.; Rivieri, F.; D'Avella, D.; Arcella, A.; Giangaspero, F.; Fassan, M.; Gardiman, M. P.

Microenvironment in neuroblastoma: Isolation and characterization of tumor-derived mesenchymal stromal cells

2018 - BMC CANCER

Pelizzo, G.; Veschi, V.; Mantelli, M.; Croce, S.; Di Benedetto, V.; D'Angelo, P.; Maltese, A.; Catenacci, L.; Apuzzo, T.; Scavo, E.; Moretta, A.; Todaro, M.; Stassi, G.; Avanzini, M. A.; Calcaterra, V.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

Hamdan, Fadi F.; Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T.; Rosenfeld, Jill A.; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M.; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R.; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E.; Thomas, Rhys H.; Shelagh, Joss; Hurst, Jane A.; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H.; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K.; Dorison, Sara J.; Benke, Paul J.; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T.; Bruel, Ange-Line; Verloes, Alain; Ãâ¢unap, Katrin; Wojcik, Monica H.; Albert, Dara V. F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S.; Bizargity, Peyman; Bacino, Carlos A.; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J.; Purcarin, Gabriela; O'Byrne, James J.; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, StÃÂ©phane; Nava, Caroline; Hiatt, Susan M.; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R.; Frye, Richard E.; Jarjour, Imad T.; Jacques, StÃÂ©phanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, FranÃÂ§ois; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F.; Sadleir, Lynette G.; Campeau, Philippe M.; Kibar, Zoha; LafreniÃre, Ronald G.; Girard, Simon L.; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A.; Scheffer, Ingrid E.; Mefford, Heather C.; Andrade, Danielle M.; Rossignol, Elsa; Minassian, Berge A.; Michaud, Jacques L.

Clinical and genetic findings in children with central nervous system arteriovenous fistulas

2017 - ANNALS OF NEUROLOGY

Saliou, G.; Eyries, M.; Iacobucci, M.; Knebel, J. -F.; Waill, M. -C.; Coulet, F.; Ozanne, A.; Soubrier, F.

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

2015 - THROMBOSIS RESEARCH