Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Authors: Saettini, Francesco, Poli, Cecilia, Vengoechea, Jaime, Bonanomi, Sonia, Orellana, Julio C., Fazio, Grazia, Rodriguez, Fred H., Noguera, Loreani P., Booth, Claire, Jarur-Chamy, Valentina, Shams, Marissa, Iascone, Maria, Vukic, Maja, Gasperini, Serena, Quadri, Manuel, Barroeta Seijas, Amairelys, Rivers, Elizabeth, Mauri, Mario, Badolato, Raffaele, Cazzaniga, Gianni, Bugarin, Cristina, Gaipa, Giuseppe, Kroes, Wilma G.M., Moratto, Daniele, van Oostaijen-ten Dam, Monique M., Baas, Frank, van der Maarel, Silvère, Piazza, Rocco, Coban-Akdemir, Zeynep H., Lupski, James R., Yuan, Bo, Chinn, Ivan K., Daxinger, Lucia, Biondi, Andrea

Source: Blood. 137(4):493-499

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More precisely defining risk peri-HCT in pediatric ALL: pre- vs post-MRD measures, serial positivity, and risk modeling

Authors: Bader, Peter, Salzmann-Manrique, Emilia, Balduzzi, Adriana, Dalle, Jean-Hugues, Woolfrey, Ann E., Bar, Merav, Verneris, Michael R., Borowitz, Michael J., Shah, Nirali N., Gossai, Nathan, Shaw, Peter J., Chen, Allen R., Schultz, Kirk R., Kreyenberg, Hermann, Di Maio, Lucia, Cazzaniga, Gianni, Eckert, Cornelia, van der Velden, Vincent H.J., Sutton, Rosemary, Lankester, Arjan, Peters, Christina, Klingebiel, Thomas E., Willasch, Andre M., Grupp, Stephan A., Pulsipher, Michael A.

Source: In Blood Advances 12 November 2019 3(21):3393-3405

IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia

Authors: Lopes, Bruno A., Meyer, Claus, Barbosa, Thayana C., Poubel, Caroline P., Mansur, Marcela B., Duployez, Nicolas, Bashton, Matthew, Harrison, Christine J., zur Stadt, Udo, Horstmann, Martin, Pombo-de-Oliveira, Maria S., Palmi, Chiara, Cazzaniga, Gianni, Venn, Nicola C., Sutton, Rosemary, Alonso, Cristina N., Tsaur, Grigory, Gupta, Sanjeev K., Bakhshi, Sameer, Marschalek, Rolf, Emerenciano, Mariana

Source: In Translational Oncology May 2019 12(5):726-732

More than an 'atypical' phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy

Authors: Saettini, Francesco, L'Imperio, Vincenzo, Fazio, Grazia, Cazzaniga, Gianni, Mazza, Cinzia, Moroni, Isabella, Badolato, Raffaele, Biondi, Andrea, Corti, Paola

Source: British journal of haematology. 191(2):291-294

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Efficacy of imatinib and chemotherapy in a pediatric patient with Philadelphia-like acute lymphoblastic leukemia with Ebf1-Pdgfrb fusion transcript

Authors: Fazio, Francesca, Barberi, Walter, Cazzaniga, Gianni, Fazio, Grazia, Messina, Monica, Della Starza, Irene, De Propris, Maria Stefania, Mancini, Francesca, Mohamed, Sara, Del Giudice, Ilaria, Chiaretti, Sabina, Moleti, Maria Luisa, Guarini, Anna, Foà, Robin, Testi, Anna Maria

Source: Leukemia & lymphoma. 61(2):469-472

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HDAC6 inhibition decreases leukemic stem cell expansion driven by Hedgehog hyperactivation by restoring primary ciliogenesis

Authors: Pezzotta, Alex, Gentile, Ilaria, Genovese, Donatella, Totaro, Maria Grazia, Battaglia, Cristina, Leung, Anskar Yu-Hung, Fumagalli, Monica, Parma, Matteo, Cazzaniga, Gianni, Fazio, Grazia, Alcalay, Myriam, Marozzi, Anna, Pistocchi, Anna

Source: Pharmacological research. 183

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185959425.0x000001&indx=1&recIds=ETOCvdc_100185959425.0x000001

The gray area of RQ-PCR-based measurable residual disease: subdividing the “positive, below quantitative range” category

Authors: Kotrova, Michaela, Fronkova, Eva, Svaton, Michael, Drandi, Daniela, Schön, Felix, Hoogeveen, Patricia, Hancock, Jeremy, Skotnicova, Aneta, Schilhabel, Anke, Eckert, Cornelia, Clappier, Emmanuelle, Cazzaniga, Gianni, Schäfer, Beat W., van Dongen, Jacques J. M., Ritgen, Matthias, Pott, Christiane, van der Velden, Vincent H. J., Trka, Jan, Brüggemann, Monika

Source: Leukemia; July 2024, Vol. 38 Issue: 7 p1617-1620, 4p

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation

Authors: Bottai, Daniele, Spreafico, Marco, Pistocchi, Anna, Fazio, Grazia, Adami, Raffaella, Grazioli, Paolo, Canu, Adriana, Bragato, Cinzia, Rigamonti, Silvia, Parodi, Chiara, Cazzaniga, Gianni, Biondi, Andrea, Cotelli, Franco, Selicorni, Angelo, Massa, Valentina

Source: Human molecular genetics. 28(1):64-73

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Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency

Authors: Muñoz-López, Alvaro, Romero-Moya, Damià, Prieto, Cristina, Ramos-Mejía, Verónica, Agraz-Doblas, Antonio, Varela, Ignacio, Buschbeck, Marcus, Palau, Anna, Carvajal-Vergara, Xonia, Giorgetti, Alessandra, Ford, Anthony, Lako, Majlinda, Granada, Isabel, Ruiz-Xivillé, Neus, Rodríguez-Perales, Sandra, Torres-Ruíz, Raul, Stam, Ronald W., Fuster, Jose Luis, Fraga, Mario F., Nakanishi, Mahito, Cazzaniga, Gianni, Bardini, Michela, Cobo, Isabel, Bayon, Gustavo F., Fernandez, Agustin F., Bueno, Clara, Menendez, Pablo

Source: In Stem Cell Reports 11 October 2016 7(4):602-618

An update on PCR use for minimal residual disease monitoring in acute lymphoblastic leukemia

Authors: Nunes, Vittorio, Cazzaniga, Gianni, Biondi, A.

Source: Expert review of molecular diagnostics. 17(11):953-963

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Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome

Authors: Cianci, Paola, Fazio, Grazia, Casagranda, Sara, Spinelli, Marco, Rizzari, Carmelo, Cazzaniga, Gianni, Selicorni, Angelo

Source: American journal of medical genetics.Part A. 173(2):546-549

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High-Throughput Immunogenetics for Clinical and Research Applications in Immunohematology: Potential and Challenges

Authors: Langerak, Anton W., Brüggemann, Monika, Davi, Frédéric, Darzentas, Nikos, van Dongen, Jacques J. M., Gonzalez, David, Cazzaniga, Gianni, Giudicelli, Véronique, Lefranc, Marie-Paule, Giraud, Mathieu

Source: Journal of immunology. 198(10):3765-3774

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN611364580&indx=1&recIds=ETOCRN611364580

Γ-Catenin-Dependent Signals Maintain BCR-ABL1+ B Cell Acute Lymphoblastic Leukemia

Authors: Luong-Gardiol, Noemie, Siddiqui, Imran, Pizzitola, Irene, Jeevan-Raj, Beena, Charmoy, Mélanie, Huang, Yun, Irmisch, Anja, Curtet, Sara, Angelov, Georgi S., Danilo, Maxime, Juilland, Mélanie, Bornhauser, Beat, Thome, Margot, Hantschel, Oliver, Chalandon, Yves, Cazzaniga, Gianni, Bourquin, Jean-Pierre, Huelsken, Joerg, Held, Werner

Source: Cancer cell. 35(4):649-663.e10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097661988.0x000001&indx=1&recIds=ETOCvdc_100097661988.0x000001

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

Authors: Hertzberg, Libi ^*, Vendramini, Elena ^*, Ganmore, Ithamar ^*, Cazzaniga, Gianni, Schmitz, Maike, Chalker, Jane, Shiloh, Ruth, Iacobucci, Ilaria, Shochat, Chen, Zeligson, Sharon, Cario, Gunnar, Stanulla, Martin, Strehl, Sabine, Russell, Lisa J., Harrison, Christine J., Bornhauser, Beat, Yoda, Akinori, Rechavi, Gideon, Bercovich, Dani, Borkhardt, Arndt, Kempski, Helena, te Kronnie, Geertruy, Bourquin, Jean-Pierre, Domany, Eytan, Izraeli, Shai ^*

Source: In Blood 4 February 2010 115(5):1006-1017

The recombinome of IKZF1deletions in B-cell precursor ALL

Authors: Lopes, Bruno A., Meyer, Claus, Bouzada, Heloysa, Külp, Marius, Maciel, Ana Luiza Tardem, Larghero, Patrizia, Barbosa, Thayana C., Poubel, Caroline P., Barbieri, Caroline, Venn, Nicola C., Pozza, Luciano Dalla, Barbaric, Draga, Palmi, Chiara, Fazio, Grazia, Saitta, Claudia, Aguiar, Thais F., Lins, Mecneide M., Ikoma-Colturato, Maura R. V., Schramm, Marcia, Chapchap, Eduardo, Cazzaniga, Gianni, Sutton, Rosemary, Marschalek, Rolf, Emerenciano, Mariana

Source: Leukemia; August 2023, Vol. 37 Issue: 8 p1727-1731, 5p

The Methylome Landscape of Infant B-Cell Precursor Acute Lymphoblastic Leukemia

Authors: Menendez, Pablo, Tejedor, Juan Ramon, Cobo, Isabel, Bayon, Gustavo F., Stam, Ronald W., Schneider, Pauline, Ballerini, Paola, Cazzaniga, Gianni, Agraz-Doblas, Antonio, Varela, Ignacio, Bueno, Clara, Fraga, Mario F., Fernandez, Agustin F.

Source: Experimental hematology. 64(S):S85-S86

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100067564014.0x000001&indx=1&recIds=ETOCvdc_100067564014.0x000001

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A Novel Inducible Mouse Model of MLL-ENL-driven Mixed-lineage Acute Leukemia

Authors: Stavropoulou, Vaia, Almosailleakh, Marwa, Royo, Hélène, Spetz, Jean-François, Juge, Sabine, Brault, Laurent, Kopp, Patrick, Iacovino, Michelina, Kyba, Michael, Tzankov, Alexandar, Stadler, Michael B., Cazzaniga, Gianni, Peters, Antoine H.F.M., Schwaller, Juerg

Source: HemaSphere. 2(4):e51-e51

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100065944605.0x000001&indx=1&recIds=ETOCvdc_100065944605.0x000001

P1056: NEXT GENERATION SEQUENCING IDENTIFIES SUBGROUPS OF PATIENTS WITH TRIPLE NEGATIVE/ PRIMARY THROMBOCYTOSIS WITH DIFFERENT CLINICAL OUTCOMES.

Authors: Sangiorgio, Valentina, Giovanni Piazza, Rocco, Mottadelli, Federica, Pagni, Fabio, Elena, Inzoli, Gambacorti‐Passerini, Carlo, Cazzaniga, Gianni, Maria Elli, Elena

Source: HemaSphere; 2023 Supplement 3, Vol. 7, p1-2, 2p

Randomized post-induction and delayed intensification therapy in high-risk pediatric acute lymphoblastic leukemia: long-term results of the international AIEOP-BFM ALL 2000 trial

Authors: Attarbaschi, Andishe, Mann, Georg, Zimmermann, Martin, Bader, Peter, Barisone, Elena, Basso, Giuseppe, Biondi, Andrea, Cario, Gunnar, Cazzaniga, Gianni, Colombini, Antonella, Flotho, Christian, Kuhlen, Michaela, Lang, Peter, Lauten, Melchior, Linderkamp, Christin, Locatelli, Franco, Lo Nigro, Luca, Möricke, Anja, Niggli, Felix, Panzer-Grümayer, Renate, Parasole, Rosanna, Peters, Christina, Caterina Putti, Maria, Rizzari, Carmelo, Suttorp, Meinolf, Valsecchi, Maria Grazia, Conter, Valentino, Schrappe, Martin

Source: Leukemia; June 2020, Vol. 34 Issue: 6 p1694-1700, 7p