Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
Toledo, Rodrigo A., Burnichon, Nelly, Cascon, Alberto, Benn, Diana E., Bayley, Jean-Pierre, Welander, Jenny, Tops, Carli M., Firth, Helen, Dwight, Trish, Ercolino, Tonino, Mannelli, Massimo, Opocher, Giuseppe, Clifton-Bligh, Roderick, Gimm, Oliver, Maher, Eamonn R., Robledo, Mercedes, Gimenez-Roqueplo, Anne-Paule, Dahia, Patricia L. M.
Published in Nature reviews. Endocrinology (01.04.2017)
Published in Nature reviews. Endocrinology (01.04.2017)
Get full text
Journal Article
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment
Zethoven, Magnus, Martelotto, Luciano, Pattison, Andrew, Bowen, Blake, Balachander, Shiva, Flynn, Aidan, Rossello, Fernando J., Hogg, Annette, Miller, Julie A., Frysak, Zdenek, Grimmond, Sean, Fishbein, Lauren, Tischler, Arthur S., Gill, Anthony J., Hicks, Rodney J., Dahia, Patricia L. M., Clifton-Bligh, Roderick, Pacak, Karel, Tothill, Richard W.
Published in Nature communications (21.10.2022)
Published in Nature communications (21.10.2022)
Get full text
Journal Article
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
King, Elizabeth E, Yao, Li, Lechleiter, James D, Aronin, Neil, Opocher, Giuseppe, Boaretto, Francesca, Chocron, E Sandra, Lenci, Romina E, Stiles, Charles, Buddavarapu, Kalyan, Toledo, Sergio P A, Dahia, Patricia L M, Schiavi, Francesca, Qin, Yuejuan, Sass, Meghan, Aguiar, Ricardo C T, Toledo, Rodrigo A
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
Get full text
Journal Article
Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
Yao, Li, Schiavi, Francesca, Cascon, Alberto, Qin, Yuejuan, Inglada-Pérez, Lucia, King, Elizabeth E, Toledo, Rodrigo A, Ercolino, Tonino, Rapizzi, Elena, Ricketts, Christopher J, Mori, Luigi, Giacchè, Mara, Mendola, Antonella, Taschin, Elisa, Boaretto, Francesca, Loli, Paola, Iacobone, Maurizio, Rossi, Gian-Paolo, Biondi, Bernadette, Lima-Junior, José Viana, Kater, Claudio E, Bex, Marie, Vikkula, Miikka, Grossman, Ashley B, Gruber, Stephen B, Barontini, Marta, Persu, Alexandre, Castellano, Maurizio, Toledo, Sergio P. A, Maher, Eamonn R, Mannelli, Massimo, Opocher, Giuseppe, Robledo, Mercedes, Dahia, Patricia L. M
Published in JAMA : the journal of the American Medical Association (15.12.2010)
Published in JAMA : the journal of the American Medical Association (15.12.2010)
Get full text
Journal Article
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas
Toledo, Rodrigo A, Qin, Yuejuan, Srikantan, Subramanya, Morales, Nicole Paes, Li, Qun, Deng, Yilun, Kim, Sang-Woo, Pereira, Maria Adelaide A, Toledo, Sergio P A, Su, Xiaoping, Aguiar, Ricardo C T, Dahia, Patricia L M
Published in Endocrine-related cancer (01.06.2013)
Published in Endocrine-related cancer (01.06.2013)
Get full text
Journal Article
Author Correction: Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment
Zethoven, Magnus, Martelotto, Luciano, Pattison, Andrew, Bowen, Blake, Balachander, Shiva, Flynn, Aidan, Rossello, Fernando J., Hogg, Annette, Miller, Julie A., Frysak, Zdenek, Grimmond, Sean, Fishbein, Lauren, Tischler, Arthur S., Gill, Anthony J., Hicks, Rodney J., Dahia, Patricia L. M., Clifton-Bligh, Roderick, Pacak, Karel, Tothill, Richard W.
Published in Nature communications (09.01.2023)
Published in Nature communications (09.01.2023)
Get full text
Journal Article
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
Janeway, Katherine A, Kim, Su Young, Lodish, Maya, Nosé, Vânia, Rustin, Pierre, Gaal, José, Dahia, Patricia L.M, Liegl, Bernadette, Ball, Evan R, Raygada, Margarita, Lai, Angela H, Kelly, Lorna, Hornick, Jason L, O'Sullivan, Maureen, de Krijger, Ronald R, Dinjens, Winand N.M, Demetri, George D, Antonescu, Cristina R, Fletcher, Jonathan A, Helman, Lee, Stratakis, Constantine A
Published in Proceedings of the National Academy of Sciences - PNAS (04.01.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (04.01.2011)
Get full text
Journal Article
Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas
Toledo, Rodrigo A, Qin, Yuejuan, Cheng, Zi-Ming, Gao, Qing, Iwata, Shintaro, Silva, Gustavo M, Prasad, Manju L, Ocal, I Tolgay, Rao, Sarika, Aronin, Neil, Barontini, Marta, Bruder, Jan, Reddick, Robert L, Chen, Yidong, Aguiar, Ricardo C T, Dahia, Patricia L M
Published in Clinical cancer research (01.05.2016)
Published in Clinical cancer research (01.05.2016)
Get full text
Journal Article
Targeting of SMAD5 Links microRNA-155 to the TGF-β Pathway and Lymphomagenesis
Rai, Deepak, Kim, Sang-Woo, McKeller, Morgan R., Dahia, Patricia L. M., Aguiar, Ricardo C. T., Rajewsky, Klaus
Published in Proceedings of the National Academy of Sciences - PNAS (16.02.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (16.02.2010)
Get full text
Journal Article
Phase I/II Study of Imatinib Mesylate for Recurrent Malignant Gliomas: North American Brain Tumor Consortium Study 99-08
Wen, Patrick Y, Yung, W K Alfred, Lamborn, Kathleen R, Dahia, Patricia L, Wang, Yanfeng, Peng, Bin, Abrey, Lauren E, Raizer, Jeffrey, Cloughesy, Timothy F, Fink, Karen, Gilbert, Mark, Chang, Susan, Junck, Larry, Schiff, David, Lieberman, Frank, Fine, Howard A, Mehta, Minesh, Robins, H Ian, DeAngelis, Lisa M, Groves, Morris D, Puduvalli, Vinay K, Levin, Victor, Conrad, Charles, Maher, Elizabeth A, Aldape, Kenneth, Hayes, Michael, Letvak, Laurie, Egorin, Merrill J, Capdeville, Renaud, Kaplan, Richard, Murgo, Anthony J, Stiles, Charles, Prados, Michael D
Published in Clinical cancer research (15.08.2006)
Published in Clinical cancer research (15.08.2006)
Get full text
Journal Article
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation
Toledo, Sergio P. A, Lourenço, Delmar M, Sekiya, Tomoko, Lucon, Antonio M, Baena, Marcos E. S, Castro, Claudio C, Bortolotto, Luiz A, Zerbini, Maria C. N, Siqueira, Sheila A. C, Toledo, Rodrigo A, Dahia, Patricia L. M
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Get full text
Journal Article
Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation
Deng, Yilun, Flores, Shahida K, Cheng, ZiMing, Qin, Yuejuan, Schwartz, Robin C, Malchoff, Carl, Dahia, Patricia L M
Published in Endocrine-related cancer (01.09.2018)
Published in Endocrine-related cancer (01.09.2018)
Get full text
Journal Article
Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes
Benn, Diana E, Gimenez-Roqueplo, Anne-Paule, Reilly, Jennifer R, Bertherat, Jérôme, Burgess, John, Byth, Karen, Croxson, Michael, Dahia, Patricia L. M, Elston, Marianne, Gimm, Oliver, Henley, David, Herman, Philippe, Murday, Victoria, Niccoli-Sire, Patricia, Pasieka, Janice L, Rohmer, Vincent, Tucker, Kathy, Jeunemaitre, Xavier, Marsh, Deborah J, Plouin, Pierre-François, Robinson, Bruce G
Published in The journal of clinical endocrinology and metabolism (01.03.2006)
Published in The journal of clinical endocrinology and metabolism (01.03.2006)
Get full text
Journal Article
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2
Lin, An-Ping, Abbas, Saman, Kim, Sang-Woo, Ortega, Manoela, Bouamar, Hakim, Escobedo, Yissela, Varadarajan, Prakash, Qin, Yuejuan, Sudderth, Jessica, Schulz, Eduard, Deutsch, Alexander, Mohan, Sumitra, Ulz, Peter, Neumeister, Peter, Rakheja, Dinesh, Gao, Xiaoli, Hinck, Andrew, Weintraub, Susan T., DeBerardinis, Ralph J., Sill, Heinz, Dahia, Patricia L. M., Aguiar, Ricardo C. T.
Published in Nature communications (16.07.2015)
Published in Nature communications (16.07.2015)
Get full text
Journal Article
Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma
Toledo, Rodrigo A, Lourenço, Delmar M, Liberman, Bernardo, Cunha-Neto, Malebranche B. C, Cavalcanti, Maria G, Moyses, Cinthia B, Toledo, Sergio P. A, Dahia, Patricia L. M
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
Get full text
Journal Article
The tumor suppressor TMEM127 regulates insulin sensitivity in a tissue-specific manner
Srikantan, Subramanya, Deng, Yilun, Cheng, Zi-Ming, Luo, Anqi, Qin, Yuejuan, Gao, Qing, Sande-Docor, Glaiza-Mae, Tao, Sifan, Zhang, Xingyu, Harper, Nathan, Shannon, Chris E., Fourcaudot, Marcel, Li, Zhi, Kasinath, Balakuntalam S., Harrison, Stephen, Ahuja, Sunil, Reddick, Robert L., Dong, Lily Q., Abdul-Ghani, Muhammad, Norton, Luke, Aguiar, Ricardo C. T., Dahia, Patricia L. M.
Published in Nature communications (17.10.2019)
Published in Nature communications (17.10.2019)
Get full text
Journal Article