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

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

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

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

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

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

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

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

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

Autor 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
Vydáno v Neuro Oncol (2016)

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

Autor 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
Vydáno v Clin Nucl Med (2013)

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

Autor 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
Vydáno 2013

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

Autor 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
Vydáno 2013

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

Autor 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
Vydáno 2014

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

Autor 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
Vydáno v Nat Cell Biol (2015)

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Autor 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.
Vydáno 2010

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

Autor 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
Vydáno v Mol Endocrinol (2010)

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

Autor 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
Vydáno v Acta Neuropathol (2018)

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

Autor 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
Vydáno v Acta Neuropathol (2018)

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

Autor 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
Vydáno 2009

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

Autor 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.
Vydáno v JAMA Oncol (2017)

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

Autor 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
Vydáno v JAMA Netw Open (2019)