Case Report: BAP1 Mutation and RAD21 Amplification as Predictive Biomarkers to PARP Inhibitor in Metastatic Intrahepatic Cholangiocarcinoma

by Sabbatino, Francesco, Liguori, Luigi, Malapelle, Umberto, Schiavi, Francesca, Tortora, Vincenzo, Conti, Valeria, Filippelli, Amelia, Tortora, Giampaolo, Ferrone, Cristina R., Pepe, Stefano
Published in Front Oncol (2020)

Liquid Biopsy in Pediatric Renal Cancer: Stage I and Stage IV Cases Compared

by Rossi, Elisabetta, Zin, Angelica, Facchinetti, Antonella, Poggiana, Cristina, Tombolan, Lucia, Affinita, Maria Carmen, Bonvini, Paolo, Santoro, Luisa, Schiavi, Francesca, Bisogno, Gianni, Zamarchi, Rita
Published in Diagnostics (Basel) (2020)

Treatment responses to antiangiogenetic therapy and chemotherapy in nonsecreting paraganglioma (PGL4) of urinary bladder with SDHB mutation: A case report

by Stigliano, Antonio, Lardo, Pina, Cerquetti, Lidia, Aschelter, Anna Maria, Matarazzo, Iolanda, Capriotti, Gabriela, Schiavi, Francesca, Marchetti, Paolo, Nardone, Maria Rosaria, Petrangeli, Elisa, Toscano, Vincenzo
Published in Medicine (Baltimore) (2018)

A Novel MAX Gene Mutation Variant in a Patient With Multiple and “Composite” Neuroendocrine–Neuroblastic Tumors

by Pozza, Carlotta, Sesti, Franz, Di Dato, Carla, Sbardella, Emilia, Pofi, Riccardo, Schiavi, Francesca, Bonifacio, Vincenzo, Isidori, Andrea M., Faggiano, Antongiulio, Lenzi, Andrea, Giannetta, Elisa
Published in Front Endocrinol (Lausanne) (2020)

Von Hippel-Lindau disease: an evaluation of natural history and functional disability

by Feletti, Alberto, Anglani, Mariagiulia, Scarpa, Bruno, Schiavi, Francesca, Boaretto, Francesca, Zovato, Stefania, Taschin, Elisa, Gardi, Mario, Zanoletti, Elisabetta, Piermarocchi, Stefano, Murgia, Alessandra, Pavesi, Giacomo, Opocher, Giuseppe
Published in Neuro Oncol (2016)

Parathyroid Scintigraphy in Renal Hyperparathyroidism: The Added Diagnostic Value of SPECT and SPECT/CT

by Taïeb, David, Ureña-Torres, Pablo, Zanotti-Fregonara, Paolo, Rubello, Domenico, Ferretti, Alice, Henter, Ioline, Henry, Jean-François, Schiavi, Francesca, Opocher, Giuseppe, Blickman, Johan G., Colletti, Patrick M., Hindié, Elif
Published in Clin Nucl Med (2013)

An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility

by Landa, Iñigo, Boullosa, Cesar, Inglada-Pérez, Lucía, Sastre-Perona, Ana, Pastor, Susana, Velázquez, Antonia, Mancikova, Veronika, Ruiz-Llorente, Sergio, Schiavi, Francesca, Marcos, Ricard, Malats, Nuria, Opocher, Giuseppe, Diaz-Uriarte, Ramon, Santisteban, Pilar, Valencia, Alfonso, Robledo, Mercedes
Published 2013

Correction: An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility

by Landa, Iñigo, Boullosa, Cesar, Inglada-Pérez, Lucía, Sastre-Perona, Ana, Pastor, Susana, Velázquez, Antonia, Mancikova, Veronika, Ruiz-Llorente, Sergio, Schiavi, Francesca, Marcos, Ricard, Malats, Nuria, Opocher, Giuseppe, Diaz-Uriarte, Ramon, Santisteban, Pilar, Valencia, Alfonso, Robledo, Mercedes
Published 2013

Krebs Cycle Metabolite Profiling for Identification and Stratification of Pheochromocytomas/Paragangliomas due to Succinate Dehydrogenase Deficiency

by Richter, Susan, Peitzsch, Mirko, Rapizzi, Elena, Lenders, Jacques W., Qin, Nan, de Cubas, Aguirre A., Schiavi, Francesca, Rao, Jyotsna U., Beuschlein, Felix, Quinkler, Marcus, Timmers, Henri J., Opocher, Giuseppe, Mannelli, Massimo, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme
Published 2014

Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis

by Cardaci, Simone, Zheng, Liang, MacKay, Gillian, van den Broek, Niels J.F., MacKenzie, Elaine D., Nixon, Colin, Stevenson, David, Tumanov, Sergey, Bulusu, Vinay, Kamphorst, Jurre J., Vazquez, Alexei, Fleming, Stewart, Schiavi, Francesca, Kalna, Gabriela, Blyth, Karen, Strathdee, Douglas, Gottlieb, Eyal
Published in Nat Cell Biol (2015)

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

by Qin, Yuejuan, Yao, Li, King, Elizabeth E., Buddavarapu, Kalyan, Lenci, Romina E., Chocron, E. Sandra, Lechleiter, James D., Sass, Meghan, Aronin, Neil, Schiavi, Francesca, Boaretto, Francesca, Opocher, Giuseppe, Toledo, Rodrigo A., Toledo, Sergio P. A., Stiles, Charles, Aguiar, Ricardo C. T., Dahia, Patricia L. M.
Published 2010

Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas

by López-Jiménez, Elena, Gómez-López, Gonzalo, Leandro-García, L. Javier, Muñoz, Iván, Schiavi, Francesca, Montero-Conde, Cristina, de Cubas, Aguirre A., Ramires, Ricardo, Landa, Iñigo, Leskelä, Susanna, Maliszewska, Agnieszka, Inglada-Pérez, Lucía, de la Vega, Leticia, Rodríguez-Antona, Cristina, Letón, Rocío, Bernal, Carmen, de Campos, José M., Diez-Tascón, Cristina, Fraga, Mario F., Boullosa, Cesar, Pisano, David G., Opocher, Giuseppe, Robledo, Mercedes, Cascón, Alberto
Published in Mol Endocrinol (2010)

Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib

by Verginelli, Fabio, Perconti, Silvia, Vespa, Simone, Schiavi, Francesca, Prasad, Sampath Chandra, Lanuti, Paola, Cama, Alessandro, Tramontana, Lorenzo, Esposito, Diana Liberata, Guarnieri, Simone, Sheu, Artenca, Pantalone, Mattia Russel, Florio, Rosalba, Morgano, Annalisa, Rossi, Cosmo, Bologna, Giuseppina, Marchisio, Marco, D’Argenio, Andrea, Taschin, Elisa, Visone, Rosa, Opocher, Giuseppe, Veronese, Angelo, Paties, Carlo T., Rajasekhar, Vinagolu K., Söderberg-Nauclér, Cecilia, Sanna, Mario, Lotti, Lavinia Vittoria, Mariani-Costantini, Renato
Published in Acta Neuropathol (2018)

Correction to: Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib

by Verginelli, Fabio, Perconti, Silvia, Vespa, Simone, Schiavi, Francesca, Prasad, Sampath Chandra, Lanuti, Paola, Cama, Alessandro, Tramontana, Lorenzo, Esposito, Diana Liberata, Guarnieri, Simone, Sheu, Artenca, Pantalone, Mattia Russel, Florio, Rosalba, Morgano, Annalisa, Rossi, Cosmo, Bologna, Giuseppina, Marchisio, Marco, D’Argenio, Andrea, Taschin, Elisa, Visone, Rosa, Opocher, Giuseppe, Veronese, Angelo, Paties, Carlo T., Rajasekhar, Vinagolu K., Söderberg-Nauclér, Cecilia, Sanna, Mario, Lotti, Lavinia Vittoria, Mariani-Costantini, Renato
Published in Acta Neuropathol (2018)

The Variant rs1867277 in FOXE1 Gene Confers Thyroid Cancer Susceptibility through the Recruitment of USF1/USF2 Transcription Factors

by Landa, Iñigo, Ruiz-Llorente, Sergio, Montero-Conde, Cristina, Inglada-Pérez, Lucía, Schiavi, Francesca, Leskelä, Susanna, Pita, Guillermo, Milne, Roger, Maravall, Javier, Ramos, Ignacio, Andía, Víctor, Rodríguez-Poyo, Paloma, Jara-Albarrán, Antonino, Meoro, Amparo, del Peso, Cristina, Arribas, Luis, Iglesias, Pedro, Caballero, Javier, Serrano, Joaquín, Picó, Antonio, Pomares, Francisco, Giménez, Gabriel, López-Mondéjar, Pedro, Castello, Roberto, Merante-Boschin, Isabella, Pelizzo, Maria-Rosa, Mauricio, Didac, Opocher, Giuseppe, Rodríguez-Antona, Cristina, González-Neira, Anna, Matías-Guiu, Xavier, Santisteban, Pilar, Robledo, Mercedes
Published 2009

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

by Bausch, Birke, Schiavi, Francesca, Ni, Ying, Welander, Jenny, Patocs, Attila, Ngeow, Joanne, Wellner, Ulrich, Malinoc, Angelica, Taschin, Elisa, Barbon, Giovanni, Lanza, Virginia, Söderkvist, Peter, Stenman, Adam, Larsson, Catharina, Svahn, Fredrika, Chen, Jin-Lian, Marquard, Jessica, Fraenkel, Merav, Walter, Martin A., Peczkowska, Mariola, Prejbisz, Aleksander, Jarzab, Barbara, Hasse-Lazar, Kornelia, Petersenn, Stephan, Moeller, Lars C., Meyer, Almuth, Reisch, Nicole, Trupka, Arnold, Brase, Christoph, Galiano, Matthias, Preuss, Simon F., Kwok, Pingling, Lendvai, Nikoletta, Berisha, Gani, Makay, Özer, Boedeker, Carsten C., Weryha, Georges, Racz, Karoly, Januszewicz, Andrzej, Walz, Martin K., Gimm, Oliver, Opocher, Giuseppe, Eng, Charis, Neumann, Hartmut P. H.
Published in JAMA Oncol (2017)

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy

by Neumann, Hartmut P. H., Tsoy, Uliana, Bancos, Irina, Amodru, Vincent, Walz, Martin K., Tirosh, Amit, Kaur, Ravinder Jeet, McKenzie, Travis, Qi, Xiaoping, Bandgar, Tushar, Petrov, Roman, Yukina, Marina Y., Roslyakova, Anna, van der Horst-Schrivers, Anouk N. A., Berends, Annika M. A., Hoff, Ana O., Castroneves, Luciana Audi, Ferrara, Alfonso Massimiliano, Rizzati, Silvia, Mian, Caterina, Dvorakova, Sarka, Hasse-Lazar, Kornelia, Kvachenyuk, Andrey, Peczkowska, Mariola, Loli, Paola, Erenler, Feyza, Krauss, Tobias, Almeida, Madson Q., Liu, Longfei, Zhu, Feizhou, Recasens, Mònica, Wohllk, Nelson, Corssmit, Eleonora P. M., Shafigullina, Zulfiya, Calissendorff, Jan, Grozinsky-Glasberg, Simona, Kunavisarut, Tada, Schalin-Jäntti, Camilla, Castinetti, Frederic, Vlček, Petr, Beltsevich, Dmitry, Egorov, Viacheslav I., Schiavi, Francesca, Links, Thera P., Lechan, Ronald M., Bausch, Birke, Young, William F., Eng, Charis
Published in JAMA Netw Open (2019)