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

por Sabbatino, Francesco, Liguori, Luigi, Malapelle, Umberto, Schiavi, Francesca, Tortora, Vincenzo, Conti, Valeria, Filippelli, Amelia, Tortora, Giampaolo, Ferrone, Cristina R., Pepe, Stefano
Publicado no Front Oncol (2020)

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

por Rossi, Elisabetta, Zin, Angelica, Facchinetti, Antonella, Poggiana, Cristina, Tombolan, Lucia, Affinita, Maria Carmen, Bonvini, Paolo, Santoro, Luisa, Schiavi, Francesca, Bisogno, Gianni, Zamarchi, Rita
Publicado no Diagnostics (Basel) (2020)

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

por Stigliano, Antonio, Lardo, Pina, Cerquetti, Lidia, Aschelter, Anna Maria, Matarazzo, Iolanda, Capriotti, Gabriela, Schiavi, Francesca, Marchetti, Paolo, Nardone, Maria Rosaria, Petrangeli, Elisa, Toscano, Vincenzo
Publicado no Medicine (Baltimore) (2018)

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

por Pozza, Carlotta, Sesti, Franz, Di Dato, Carla, Sbardella, Emilia, Pofi, Riccardo, Schiavi, Francesca, Bonifacio, Vincenzo, Isidori, Andrea M., Faggiano, Antongiulio, Lenzi, Andrea, Giannetta, Elisa
Publicado no Front Endocrinol (Lausanne) (2020)

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

por 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
Publicado no Neuro Oncol (2016)

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

por 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
Publicado no Clin Nucl Med (2013)

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

por 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
Publicado em 2013

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

por 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
Publicado em 2013

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

por 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
Publicado em 2014

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

por 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
Publicado no Nat Cell Biol (2015)

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

por 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.
Publicado em 2010

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

por 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
Publicado no Mol Endocrinol (2010)

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

por 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
Publicado no Acta Neuropathol (2018)

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

por 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
Publicado no Acta Neuropathol (2018)

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

por 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
Publicado em 2009

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

por 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.
Publicado no JAMA Oncol (2017)

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

por 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
Publicado no JAMA Netw Open (2019)