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829 results on '"Gimenez-Roqueplo, Anne-Paule"'

151. MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate

Author

Salle, Stefanie Parisien-La, primary, Dumas, Nadine, primary, Jolin, Judith, primary, Nolet, Serge, primary, Lacroix, André, primary, Lévesque, Isabelle, primary, Burnichon, Nelly, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Bourdeau, Isabelle, primary

Published
2020
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152. Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

Author

Buffet, Alexandre, primary, Calsina, Bruna, additional, Flores, Shahida, additional, Giraud, Sophie, additional, Lenglet, Marion, additional, Romanet, Pauline, additional, Deflorenne, Elisa, additional, Aller, Javier, additional, Bourdeau, Isabelle, additional, Bressac-de Paillerets, Brigitte, additional, Calatayud, María, additional, Dehais, Caroline, additional, De Mones Del Pujol, Erwan, additional, Elenkova, Atanaska, additional, Herman, Philippe, additional, Kamenický, Peter, additional, Lejeune, Sophie, additional, Sadoul, Jean Louis, additional, Barlier, Anne, additional, Richard, Stephane, additional, Favier, Judith, additional, Burnichon, Nelly, additional, Gardie, Betty, additional, Dahia, Patricia L, additional, Robledo, Mercedes, additional, and Gimenez-Roqueplo, Anne-Paule, additional

Published
2020
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153. Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

Author

Daly, Adrian F., Tichomirowa, Maria A., Petrossians, Patrick, Heliövaara, Elina, Jaffrain-Rea, Marie-Lise, Barlier, Anne, Naves, Luciana A., Ebeling, Tapani, Karhu, Auli, Raappana, Antti, Cazabat, Laure, De Menis, Ernesto, Fajardo Montañana, Carmen, Raverot, Gerald, Weil, Robert J., Sane, Timo, Maiter, Dominique, Neggers, Sebastian, Yaneva, Maria, Tabarin, Antoine, Verrua, Elisa, Eloranta, Eija, Murat, Arnaud, Vierimaa, Outi, Salmela, Pasi I., Emy, Philippe, Toledo, Rodrigo A., Sabaté, Maria Isabel, Villa, Chiara, Popelier, Marc, Salvatori, Roberto, Jennings, Juliet, Ferrandez Longás, Ángel, Labarta Aizpún, José Ignacio, Georgitsi, Marianthi, Paschke, Ralf, Ronchi, Cristina, Valimaki, Matti, Saloranta, Carola, De Herder, Wouter, Cozzi, Renato, Guitelman, Mirtha, Magri, Flavia, Lagonigro, Maria Stefania, Halaby, Georges, Corman, Vinciane, Hagelstein, Marie-Thérèse, Vanbellinghen, Jean-François, Barcelos Barra, Gustavo, Gimenez-Roqueplo, Anne-Paule, Cameron, Fergus J., Borson-Chazot, Françoise, Holdaway, Ian, Toledo, Sergio P. A., Stalla, Günter K., Spada, Anna, Zacharieva, Sabina, Bertherat, Jerome, Brue, Thierry, Bours, Vincent, Chanson, Philippe, Aaltonen, Lauri A., and Beckers, Albert

Published
2010

154. SDHA is a tumor suppressor gene causing paraganglioma

Author

Burnichon, Nelly, Brière, Jean-Jacques, Libé, Rossella, Vescovo, Laure, Rivière, Julie, Tissier, Frédérique, Jouanno, Elodie, Jeunemaitre, Xavier, Bénit, Paule, Tzagoloff, Alexander, Rustin, Pierre, Bertherat, Jérôme, Favier, Judith, and Gimenez-Roqueplo, Anne-Paule

Published
2010
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155. Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas

Author

Lussey-Lepoutre, Charlotte, primary, Bellucci, Alexandre, additional, Burnichon, Nelly, additional, Amar, Laurence, additional, Buffet, Alexandre, additional, Drossart, Tom, additional, Fontaine, Sébastien, additional, Clement, Olivier, additional, Benit, Paule, additional, Rustin, Pierre, additional, Groussin, Lionel, additional, Meatchi, Tchao, additional, Gimenez-Roqueplo, Anne-Paule, additional, Tavitian, Bertrand, additional, and Favier, Judith, additional

Published
2019
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156. Successful Targeting of an ATG7-RAF1 Gene Fusion in Anaplastic Pleomorphic Xanthoastrocytoma With Leptomeningeal Dissemination

Author

Touat, Mehdi, primary, Younan, Nadia, additional, Euskirchen, Philipp, additional, Fontanilles, Maxime, additional, Mokhtari, Karima, additional, Dehais, Caroline, additional, Tilleul, Patrick, additional, Rahimian-Aghda, Amithys, additional, Resnick, Adam, additional, Gimenez-Roqueplo, Anne-Paule, additional, Blons, Hélène, additional, Hoang-Xuan, Khê, additional, Delattre, Jean-Yves, additional, Idbaih, Ahmed, additional, Laurent-Puig, Pierre, additional, and Sanson, Marc, additional

Published
2019
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158. Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2

Author

Boedeker, Carsten C., Erlic, Zoran, Richard, Stéphane, Kontny, Udo, Gimenez-Roqueplo, Anne-Paule, Cascon, Alberto, Robledo, Mercedes, de Campos, José M., van Nederveen, Francien H., de Krijger, Ronald R., Burnichon, Nelly, Gaal, José, Walter, Martin A., Reschke, Kirsten, Wiech, Thorsten, Weber, Johannes, Rückauer, Klaus, Plouin, Pierre Francois, Darrouzet, Vincent, Giraud, Sophie, Eng, Charis, and Neumann, Hartmut P. H.

Published
2009

159. Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients

Author

Cascón, Alberto, Pita, Guillermo, Burnichon, Nelly, Landa, Iñigo, López-Jiménez, Elena, Montero-Conde, Cristina, Leskelä, Susanna, Leandro-García, Luis Javier, Letón, Rocío, Rodríguez-Antona, Cristina, Díaz, José Ángel, López-Vidriero, Emilio, González-Neira, Anna, Velasco, Ana, Matias-Guiu, Xavier, Gimenez-Roqueplo, Anne-Paule, and Robledo, Mercedes

Published
2009

164. Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families

Author

Daly, Adrian F., Vanbellinghen, Jean-François, Khoo, Sok Kean, Jaffrain-Rea, Marie-Lise, Naves, Luciana A., Guitelman, Mirtha A., Murat, Arnaud, Emy, Philippe, Gimenez-Roqueplo, Anne-Paule, Tamburrano, Guido, Raverot, Gérald, Barlier, Anne, De Herder, Wouter, Penfornis, Alfred, Ciccarelli, Enrica, Estour, Bruno, Lecomte, Pierre, Gatta, Blandine, Chabre, Olivier, Sabaté, María Isabel, Bertagna, Xavier, Basavilbaso, Natalia Garcia, Stalldecker, Graciela, Colao, Annamaria, Ferolla, Piero, Wémeau, Jean-Louis, Caron, Philippe, Sadoul, Jean-Louis, Oneto, Adriana, Archambeaud, Françoise, Calender, Alain, Sinilnikova, Olga, Montañana, Carmen Fajardo, Cavagnini, Francesco, Hana, Vaclav, Solano, Angela, Delettieres, Dreanina, Luccio-Camelo, Douglas C., Basso, Armando, Rohmer, Vincent, Brue, Thierry, Bours, Vincent, Teh, Bin Tean, and Beckers, Albert

Published
2007

171. Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes

Author

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, and Robinson, Bruce G.

Published
2006

173. Genetic Testing in Pheochromocytoma or Functional Paraganglioma

Author

Amar, Laurence, Bertherat, Jérôme, Baudin, Eric, Ajzenberg, Christiane, Bressac-de Paillerets, Brigitte, Chabre, Olivier, Chamontin, Bernard, Delemer, Brigitte, Giraud, Sophie, Murat, Arnaud, Niccoli-Sire, Patricia, Richard, Stéphane, Rohmer, Vincent, Sadoul, Jean-Louis, Strompf, Laurence, Schlumberger, Martin, Bertagna, Xavier, Plouin, Pierre-François, Jeunemaitre, Xavier, and Gimenez-Roqueplo, Anne-Paule

Published
2005
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180. Erratum: The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma (Cell Reports (2018) 23(1) (313–326.e5) (S2211124718304364) (10.1016/j.celrep.2018.03.075))

Author

Ricketts, Christopher J., De Cubas, Aguirre A., Fan, Huihui, Smith, Christof C., Lang, Martin, Reznik, Ed, Bowlby, Reanne, Gibb, Ewan A., Akbani, Rehan, Beroukhim, Rameen, Bottaro, Donald P., Choueiri, Toni K., Gibbs, Richard A., Godwin, Andrew K., Haake, Scott, Hakimi, A. Ari, Henske, Elizabeth P., Hsieh, James J., Thai H., Ho, Kanchi, Rupa S., Krishnan, Bhavani, Kwiatkowski, David J., Lui, Wembin, Merino, Maria J., Mills, Gordon B., Myers, Jerome, Nickerson, Michael L., Reuter, Victor E., Schmidt, Laura S., Shelley, Carl Simon, Shen, Hui, Shuch, Brian, Signoretti, Sabina, Srinivasan, Ramaprasad, Tamboli, Pheroze, Thomas, George, Vincent, Benjamin G., Vocke, Cathy D., Wheeler, David A., Yang, Liming, Kim, William Y., Robertson, A. Gordon, Caesar-Johnson, Samantha J., Demchok, John A., Felau, Ina, Kasapi, Melpomeni, Ferguson, Martin L., Hutter, Carolyn M., Sofia, Heidi J., Tarnuzzer, Roy, Wang, Zhining, Zenklusen, Jean C., Zhang, Jiashan (Julia), Chudamani, Sudha, Liu, Jia, Lolla, Laxmi, Naresh, Rashi, Pihl, Todd, Sun, Qiang, Wan, Yunhu, Ye, Wu, Cho, Juok, Defreitas, Timothy, Frazer, Scott, Gehlenborg, Nils, Getz, Gad, Heiman, David I., Kim, Jaegil, Lawrence, Michael S., Lin, Pei, Meier, Sam, Noble, Michael S., Saksena, Gordon, Voet, Doug, Zhang, Hongxin, Bernard, Brady, Chambwe, Nyasha, Dhankani, Varsha, Knijnenburg, Theo, Kramer, Roger, Leinonen, Kalle, Liu, Yuexin, Miller, Michael, Reynolds, Sheila, Shmulevich, Ilya, Thorsson, Vesteinn, Zhang, Wei, Broom, Bradley M., Hegde, Apurva M., Zhenlin, Ju, Korkut, Anil, Jun, Li, Liang, Han, Ling, Shiyun, Liu, Wenbin, Yiling, Lu, Kwok-Shing, Ng, Rao, Arvind, Ryan, Michael, Wang, Jioajiao, Weinstein, John N., Zhang, Jiexin, Abeshouse, Adam, Armenia, Joshua, Chakravarty, Debyani, Chatila, Walid K., de Bruijn, Ino, Gao, Jianjiong, Gross, Benjamin E., Heins, Zachary J., Kundra, Ritika, Konnor, La, Ladanyi, Marc, Luna, Augustin, Nissan, Moriah G., Ochoa, Angelica, Phillips, Sarah M., Sanchez-Vega, Francisco, Sander, Chris, Schultz, Nikolaus, Sheridan, Robert, Sumer, S. Onur, Sun, Yichao, Taylor, Barry S., Anur, Pavana, Peto, Myron, Spellman, Paul, Benz, Christopher, Stuart, Joshua M., Wong, Christopher K., Yau, Christina, Hayes, D. Neil, Parker, Joel S., Wilkerson, Matthew D., Ally, Adrian, Balasundaram, Miruna, Brooks, Denise, Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Holt, Robert, Jones, Steven J. M., Kasaian, Katayoon, Lee, Darlene, Yussanne, Ma, Marra, Marco A., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Mungall, Karen, Sadeghi, Sara, Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Thiessen, Nina, Tse, Kane, Wong, Tina, Berger, Ashton C., Cherniack, Andrew D., Cibulskis, Carrie, Gabriel, Stacey B., Gao, Galen F., Gavin, Ha, Meyerson, Matthew, Schumacher, Steven E., Shih, Juliann, Kucherlapati, Melanie H., Kucherlapati, Raju S., Baylin, Stephen, Cope, Leslie, Danilova, Ludmila, Bootwalla, Moiz S., Lai, Phillip H., Maglinte, Dennis T., Van Den Berg, David J., Weisenberger, Daniel J., Auman, J. Todd, Balu, Saianand, Bodenheimer, Tom, Fan, Cheng, Hoadley, Katherine A., Hoyle, Alan P., Jefferys, Stuart R., Jones, Corbin D., Meng, Shaowu, Mieczkowski, Piotr A., Mose, Lisle E., Perou, Amy H., Perou, Charles M., Roach, Jeffrey, Shi, Yan, Simons, Janae V., Skelly, Tara, Soloway, Matthew G., Tan, Donghui, Veluvolu, Umadevi, Hinoue, Toshinori, Laird, Peter W., Zhou, Wanding, Bellair, Michelle, Chang, Kyle, Covington, Kyle, Creighton, Chad J., Dinh, Huyen, Doddapaneni, Harshavardhan, Donehower, Lawrence A., Drummond, Jennifer, Glenn, Robert, Hale, Walker, Han, Yi, Jianhong, Hu, Korchina, Viktoriya, Lee, Sandra, Lewis, Lora, Wei, Li, Liu, Xiuping, Morgan, Margaret, Morton, Donna, Muzny, Donna, Santibanez, Jireh, Sheth, Margi, Shinbrot, Eve, Wang, Linghua, Wang, Min, Liu, Xi, Zhao, Fengmei, Hess, Julian, Appelbaum, Elizabeth L., Bailey, Matthew, Cordes, Matthew G., Ding, Li, Fronick, Catrina C., Fulton, Lucinda A., Fulton, Robert S., Kandoth, Cyriac, Mardis, Elaine R., Mclellan, Michael D., Miller, Christopher A., Schmidt, Heather K., Wilson, Richard K., Crain, Daniel, Curley, Erin, Gardner, Johanna, Lau, Kevin, Mallery, David, Morris, Scott, Paulauskis, Joseph, Penny, Robert, Shelton, Candace, Shelton, Troy, Sherman, Mark, Thompson, Eric, Yena, Peggy, Bowen, Jay, Gastier-Foster, Julie M., Gerken, Mark, Leraas, Kristen M., Lichtenberg, Tara M., Ramirez, Nilsa C., Wise, Lisa, Zmuda, Erik, Corcoran, Niall, Costello, Tony, Hovens, Christopher, Carvalho, Andre L., de Carvalho, Ana C., Fregnani, José H., Longatto-Filho, Adhemar, Reis, Rui M., Scapulatempo-Neto, Cristovam, Silveira, Henrique C. S., Vidal, Daniel O., Burnette, Andrew, Eschbacher, Jennifer, Hermes, Beth, Noss, Ardene, Singh, Rosy, Anderson, Matthew L., Castro, Patricia D., Ittmann, Michael, Huntsman, David, Kohl, Bernard, Xuan, Le, Thorp, Richard, Andry, Chris, Duffy, Elizabeth R., Lyadov, Vladimir, Paklina, Oxana, Setdikova, Galiya, Shabunin, Alexey, Tavobilov, Mikhail, Mcpherson, Christopher, Warnick, Ronald, Berkowitz, Ross, Cramer, Daniel, Feltmate, Colleen, Horowitz, Neil, Kibel, Adam, Muto, Michael, Raut, Chandrajit P., Malykh, Andrei, Barnholtz-Sloan, Jill S., Barrett, Wendi, Devine, Karen, Fulop, Jordonna, Ostrom, Quinn T., Shimmel, Kristen, Wolinsky, Yingli, Sloan, Andrew E., De Rose, Agostino, Giuliante, Felice, Goodman, Marc, Karlan, Beth Y., Hagedorn, Curt H., Eckman, John, Harr, Jodi, Tucker, Kelinda, Zach, Leigh Anne, Deyarmin, Brenda, Hai, Hu, Kvecher, Leonid, Larson, Caroline, Mural, Richard J., Somiari, Stella, Vicha, Ales, Zelinka, Tomas, Bennett, Joseph, Iacocca, Mary, Rabeno, Brenda, Swanson, Patricia, Latour, Mathieu, Lacombe, Louis, Têtu, Bernard, Bergeron, Alain, Mcgraw, Mary, Staugaitis, Susan M., Chabot, John, Hibshoosh, Hanina, Sepulveda, Antonia, Tao, Su, Wang, Timothy, Potapova, Olga, Voronina, Olga, Desjardins, Laurence, Mariani, Odette, Roman-Roman, Sergio, Sastre, Xavier, Stern, Marc-Henri, Cheng, Feixiong, Berchuck, Andrew, Bigner, Darell, Lipp, Eric, Marks, Jeffrey, Mccall, Shannon, Mclendon, Roger, Secord, Angeles, Sharp, Alexis, Behera, Madhusmita, Brat, Daniel J., Chen, Amy, Delman, Keith, Force, Seth, Khuri, Fadlo, Magliocca, Kelly, Maithel, Shishir, Olson, Jeffrey J., Owonikoko, Taofeek, Pickens, Alan, Ramalingam, Suresh, Shin, Dong M., Sica, Gabriel, Van Meir, Erwin G., Zhang, Hongzheng, Eijckenboom, Wil, Gillis, Ad, Korpershoek, Esther, Looijenga, Leendert, Oosterhuis, Wolter, Stoop, Hans, van Kessel, Kim E., Zwarthoff, Ellen C., Calatozzolo, Chiara, Cuppini, Lucia, Cuzzubbo, Stefania, Dimeco, Francesco, Finocchiaro, Gaetano, Mattei, Luca, Perin, Alessandro, Pollo, Bianca, Chen, Chu, Houck, John, Lohavanichbutr, Pawadee, Hartmann, Arndt, Stoehr, Christine, Stoehr, Robert, Taubert, Helge, Wach, Sven, Wullich, Bernd, Kycler, Witold, Murawa, Dawid, Wiznerowicz, Maciej, Chung, Ki, Edenfield, W. Jeffrey, Martin, Julie, Baudin, Eric, Bubley, Glenn, Bueno, Raphael, De Rienzo, Assunta, Richards, William G., Kalkanis, Steven, Mikkelsen, Tom, Noushmehr, Houtan, Scarpace, Lisa, Girard, Nicolas, Aymerich, Marta, Campo, Elias, Giné, Eva, Guillermo, Armando López, Van Bang, Nguyen, Hanh, Phan Thi, Phu, Bui Duc, Tang, Yufang, Colman, Howard, Evason, Kimberley, Dottino, Peter R., Martignetti, John A., Gabra, Hani, Juhl, Hartmut, Akeredolu, Teniola, Stepa, Serghei, Hoon, Dave, Ahn, Keunsoo, Kang, Koo Jeong, Beuschlein, Felix, Breggia, Anne, Birrer, Michael, Bell, Debra, Borad, Mitesh, Bryce, Alan H., Castle, Erik, Chandan, Vishal, Cheville, John, Copland, John A., Farnell, Michael, Flotte, Thomas, Giama, Nasra, Thai, Ho, Kendrick, Michael, Kocher, Jean-Pierre, Kopp, Karla, Moser, Catherine, Nagorney, David, O'Brien, Daniel, O'Neill, Brian Patrick, Patel, Tushar, Petersen, Gloria, Que, Florencia, Rivera, Michael, Roberts, Lewis, Smallridge, Robert, Smyrk, Thomas, Stanton, Melissa, Thompson, R. Houston, Torbenson, Michael, Yang, Ju Dong, Zhang, Lizhi, Brimo, Fadi, Ajani, Jaffer A., Gonzalez, Ana Maria Angulo, Behrens, Carmen, Bondaruk, Jolanta, Broaddus, Russell, Czerniak, Bogdan, Esmaeli, Bita, Fujimoto, Junya, Gershenwald, Jeffrey, Guo, Charles, Lazar, Alexander J., Logothetis, Christopher, Meric-Bernstam, Funda, Moran, Cesar, Ramondetta, Lois, Rice, David, Sood, Anil, Thompson, Timothy, Troncoso, Patricia, Tsao, Anne, Wistuba, Ignacio, Carter, Candace, Haydu, Lauren, Hersey, Peter, Jakrot, Valerie, Kakavand, Hojabr, Kefford, Richard, Lee, Kenneth, Long, Georgina, Mann, Graham, Quinn, Michael, Saw, Robyn, Scolyer, Richard, Shannon, Kerwin, Spillane, Andrew, Stretch, Onathan, Synott, Maria, Thompson, John, Wilmott, James, Al-Ahmadie, Hikmat, Chan, Timothy A., Ghossein, Ronald, Gopalan, Anuradha, Levine, Douglas A., Reuter, Victor, Singer, Samuel, Singh, Bhuvanesh, Tien, Nguyen Viet, Broudy, Thomas, Mirsaidi, Cyrus, Nair, Praveen, Drwiega, Paul, Miller, Judy, Smith, Jennifer, Zaren, Howard, Park, Joong-Won, Hung, Nguyen Phi, Kebebew, Electron, Linehan, W. Marston, Metwalli, Adam R., Pacak, Karel, Pinto, Peter A., Schiffman, Mark, Wentzensen, Nicolas, Worrell, Robert, Yang, Hannah, Moncrieff, Marc, Goparaju, Chandra, Melamed, Jonathan, Pass, Harvey, Botnariuc, Natalia, Caraman, Irina, Cernat, Mircea, Chemencedji, Inga, Clipca, Adrian, Doruc, Serghei, Gorincioi, Ghenadie, Mura, Sergiu, Pirtac, Maria, Stancul, Irina, Tcaciuc, Diana, Albert, Monique, Alexopoulou, Iakovina, Arnaout, Angel, Bartlett, John, Engel, Jay, Gilbert, Sebastien, Parfitt, Jeremy, Sekhon, Harman, Rassl, Doris M., Rintoul, Robert C., Bifulco, Carlo, Tamakawa, Raina, Urba, Walter, Hayward, Nicholas, Timmers, Henri, Antenucci, Anna, Facciolo, Francesco, Grazi, Gianluca, Marino, Mirella, Merola, Roberta, de Krijger, Ronald, Gimenez-Roqueplo, Anne-Paule, Piché, Alain, Chevalier, Simone, Mckercher, Ginette, Birsoy, Kivanc, Barnett, Gene, Brewer, Cathy, Farver, Carol, Naska, Theresa, Pennell, Nathan A., Raymond, Daniel, Schilero, Cathy, Smolenski, Kathy, Williams, Felicia, Morrison, Carl, Borgia, Jeffrey A., Liptay, Michael J., Pool, Mark, Seder, Christopher W., Junker, Kerstin, Omberg, Larsson, Dinkin, Mikhail, Manikhas, George, Alvaro, Domenico, Bragazzi, Maria Consiglia, Cardinale, Vincenzo, Carpino, Guido, Gaudio, Eugenio, Chesla, David, Cottingham, Sandra, Dubina, Michael, Moiseenko, Fedor, Dhanasekaran, Renumathy, Becker, Karl-Friedrich, Janssen, Klaus-Peter, Slotta-Huspenina, Julia, Abdel-Rahman, Mohamed H., Aziz, Dina, Bell, Sue, Cebulla, Colleen M., Davis, Amy, Duell, Rebecca, Elder, J. Bradley, Hilty, Joe, Kumar, Bahavna, Lang, James, Lehman, Norman L., Mandt, Randy, Nguyen, Phuong, Pilarski, Robert, Rai, Karan, Schoenfield, Lynn, Senecal, Kelly, Wakely, Paul, Hansen, Paul, Lechan, Ronald, Powers, James, Tischler, Arthur, Grizzle, William E., Sexton, Katherine C., Kastl, Alison, Henderson, Joel, Porten, Sima, Waldmann, Jens, Fassnacht, Martin, Asa, Sylvia L., Schadendorf, Dirk, Couce, Marta, Graefen, Markus, Huland, Hartwig, Sauter, Guido, Schlomm, Thorsten, Simon, Ronald, Tennstedt, Pierre, Olabode, Oluwole, Nelson, Mark, Bathe, Oliver, Carroll, Peter R., Chan, June M., Disaia, Philip, Glenn, Pat, Kelley, Robin K., Landen, Charles N., Phillips, Joanna, Prados, Michael, Simko, Jeffry, Smith-McCune, Karen, Vandenberg, Scott, Roggin, Kevin, Fehrenbach, Ashley, Kendler, Ady, Sifri, Suzanne, Steele, Ruth, Jimeno, Antonio, Carey, Francis, Forgie, Ian, Mannelli, Massimo, Carney, Michael, Hernandez, Brenda, Campos, Benito, Herold-Mende, Christel, Jungk, Christin, Unterberg, Andreas, von Deimling, Andreas, Bossler, Aaron, Galbraith, Joseph, Jacobus, Laura, Knudson, Michael, Knutson, Tina, Deqin, Ma, Milhem, Mohammed, Sigmund, Rita, Madan, Rashna, Rosenthal, Howard G., Adebamowo, Clement, Adebamowo, Sally N., Boussioutas, Alex, Beer, David, Giordano, Thomas, Mes-Masson, Anne-Marie, Saad, Fred, Bocklage, Therese, Landrum, Lisa, Mannel, Robert, Moore, Kathleen, Moxley, Katherine, Postier, Russel, Walker, Joan, Zuna, Rosemary, Feldman, Michael, Valdivieso, Federico, Dhir, Rajiv, Luketich, James, Pinero, Edna M. Mora, Quintero-Aguilo, Mario, Carlotti, Carlos Gilberto, Dos Santos, Jose Sebastião, Kemp, Rafael, Sankarankuty, Ajith, Tirapelli, Daniela, Catto, James, Agnew, Kathy, Swisher, Elizabeth, Creaney, Jenette, Robinson, Bruce, Godwin, Eryn M., Kendall, Sara, Shipman, Cassaundra, Bradford, Carol, Carey, Thomas, Haddad, Andrea, Moyer, Jeffey, Peterson, Lisa, Prince, Mark, Rozek, Laura, Wolf, Gregory, Bowman, Rayleen, Fong, Kwun M., Yang, Ian, Korst, Robert, Rathmell, W. Kimryn, Fantacone-Campbell, J. Leigh, Hooke, Jeffrey A., Kovatich, Albert J., Shriver, Craig D., Dipersio, John, Drake, Bettina, Govindan, Ramaswamy, Heath, Sharon, Ley, Timothy, Van Tine, Brian, Westervelt, Peter, Rubin, Mark A., Lee, Jung Il, Aredes, Natália D., Mariamidze, Armaz, and Spellman, Paul T.

Subjects
Genetics and Molecular Biology (all), Biochemistry, Genetics and Molecular Biology (all), Biochemistry
Published
2018

181. Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

Author

Bénit, Paule, primary, Kahn, Agathe, additional, Chretien, Dominique, additional, Bortoli, Sylvie, additional, Huc, Laurence, additional, Schiff, Manuel, additional, Gimenez-Roqueplo, Anne-Paule, additional, Favier, Judith, additional, Gressens, Pierre, additional, Rak, Malgorzata, additional, and Rustin, Pierre, additional

Published
2019
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182. Transcriptome Analysis of lncRNAs in Pheochromocytomas and Paragangliomas

Author

Job, Sylvie, primary, Georges, Adrien, additional, Burnichon, Nelly, additional, Buffet, Alexandre, additional, Amar, Laurence, additional, Bertherat, Jérôme, additional, Bouatia-Naji, Nabila, additional, de Reyniès, Aurélien, additional, Drui, Delphine, additional, Lussey-Lepoutre, Charlotte, additional, Favier, Judith, additional, Gimenez-Roqueplo, Anne-Paule, additional, and Castro-Vega, Luis Jaime, additional

Published
2019
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183. The Immune Landscape of Cancer

Author

Thorsson, Vésteinn, primary, Gibbs, David L., additional, Brown, Scott D., additional, Wolf, Denise, additional, Bortone, Dante S., additional, Ou Yang, Tai-Hsien, additional, Porta-Pardo, Eduard, additional, Gao, Galen F., additional, Plaisier, Christopher L., additional, Eddy, James A., additional, Ziv, Elad, additional, Culhane, Aedin C., additional, Paull, Evan O., additional, Sivakumar, I.K. Ashok, additional, Gentles, Andrew J., additional, Malhotra, Raunaq, additional, Farshidfar, Farshad, additional, Colaprico, Antonio, additional, Parker, Joel S., additional, Mose, Lisle E., additional, Vo, Nam Sy, additional, Liu, Jianfang, additional, Liu, Yuexin, additional, Rader, Janet, additional, Dhankani, Varsha, additional, Reynolds, Sheila M., additional, Bowlby, Reanne, additional, Califano, Andrea, additional, Cherniack, Andrew D., additional, Anastassiou, Dimitris, additional, Bedognetti, Davide, additional, Mokrab, Younes, additional, Newman, Aaron M., additional, Rao, Arvind, additional, Chen, Ken, additional, Krasnitz, Alexander, additional, Hu, Hai, additional, Malta, Tathiane M., additional, Noushmehr, Houtan, additional, Pedamallu, Chandra Sekhar, additional, Bullman, Susan, additional, Ojesina, Akinyemi I., additional, Lamb, Andrew, additional, Zhou, Wanding, additional, Shen, Hui, additional, Choueiri, Toni K., additional, Weinstein, John N., additional, Guinney, Justin, additional, Saltz, Joel, additional, Holt, Robert A., additional, Rabkin, Charles S., additional, Lazar, Alexander J., additional, Serody, Jonathan S., additional, Demicco, Elizabeth G., additional, Disis, Mary L., additional, Vincent, Benjamin G., additional, Shmulevich, Ilya, additional, Caesar-Johnson, Samantha J., additional, Demchok, John A., additional, Felau, Ina, additional, Kasapi, Melpomeni, additional, Ferguson, Martin L., additional, Hutter, Carolyn M., additional, Sofia, Heidi J., additional, Tarnuzzer, Roy, additional, Wang, Zhining, additional, Yang, Liming, additional, Zenklusen, Jean C., additional, Zhang, Jiashan (Julia), additional, Chudamani, Sudha, additional, Liu, Jia, additional, Lolla, Laxmi, additional, Naresh, Rashi, additional, Pihl, Todd, additional, Sun, Qiang, additional, Wan, Yunhu, additional, Wu, Ye, additional, Cho, Juok, additional, DeFreitas, Timothy, additional, Frazer, Scott, additional, Gehlenborg, Nils, additional, Getz, Gad, additional, Heiman, David I., additional, Kim, Jaegil, additional, Lawrence, Michael S., additional, Lin, Pei, additional, Meier, Sam, additional, Noble, Michael S., additional, Saksena, Gordon, additional, Voet, Doug, additional, Zhang, Hailei, additional, Bernard, Brady, additional, Chambwe, Nyasha, additional, Knijnenburg, Theo, additional, Kramer, Roger, additional, Leinonen, Kalle, additional, Miller, Michael, additional, Reynolds, Sheila, additional, Thorsson, Vesteinn, additional, Zhang, Wei, additional, Akbani, Rehan, additional, Broom, Bradley M., additional, Hegde, Apurva M., additional, Ju, Zhenlin, additional, Kanchi, Rupa S., additional, Korkut, Anil, additional, Li, Jun, additional, Liang, Han, additional, Ling, Shiyun, additional, Liu, Wenbin, additional, Lu, Yiling, additional, Mills, Gordon B., additional, Ng, Kwok-Shing, additional, Ryan, Michael, additional, Wang, Jing, additional, Zhang, Jiexin, additional, Abeshouse, Adam, additional, Armenia, Joshua, additional, Chakravarty, Debyani, additional, Chatila, Walid K., additional, de Bruijn, Ino, additional, Gao, Jianjiong, additional, Gross, Benjamin E., additional, Heins, Zachary J., additional, Kundra, Ritika, additional, La, Konnor, additional, Ladanyi, Marc, additional, Luna, Augustin, additional, Nissan, Moriah G., additional, Ochoa, Angelica, additional, Phillips, Sarah M., additional, Reznik, Ed, additional, Sanchez-Vega, Francisco, additional, Sander, Chris, additional, Schultz, Nikolaus, additional, Sheridan, Robert, additional, Sumer, S. Onur, additional, Sun, Yichao, additional, Taylor, Barry S., additional, Wang, Jioajiao, additional, Zhang, Hongxin, additional, Anur, Pavana, additional, Peto, Myron, additional, Spellman, Paul, additional, Benz, Christopher, additional, Stuart, Joshua M., additional, Wong, Christopher K., additional, Yau, Christina, additional, Hayes, D. Neil, additional, Wilkerson, Matthew D., additional, Ally, Adrian, additional, Balasundaram, Miruna, additional, Brooks, Denise, additional, Carlsen, Rebecca, additional, Chuah, Eric, additional, Dhalla, Noreen, additional, Holt, Robert, additional, Jones, Steven J.M., additional, Kasaian, Katayoon, additional, Lee, Darlene, additional, Ma, Yussanne, additional, Marra, Marco A., additional, Mayo, Michael, additional, Moore, Richard A., additional, Mungall, Andrew J., additional, Mungall, Karen, additional, Robertson, A. Gordon, additional, Sadeghi, Sara, additional, Schein, Jacqueline E., additional, Sipahimalani, Payal, additional, Tam, Angela, additional, Thiessen, Nina, additional, Tse, Kane, additional, Wong, Tina, additional, Berger, Ashton C., additional, Beroukhim, Rameen, additional, Cibulskis, Carrie, additional, Gabriel, Stacey B., additional, Ha, Gavin, additional, Meyerson, Matthew, additional, Schumacher, Steven E., additional, Shih, Juliann, additional, Kucherlapati, Melanie H., additional, Kucherlapati, Raju S., additional, Baylin, Stephen, additional, Cope, Leslie, additional, Danilova, Ludmila, additional, Bootwalla, Moiz S., additional, Lai, Phillip H., additional, Maglinte, Dennis T., additional, Van Den Berg, David J., additional, Weisenberger, Daniel J., additional, Auman, J. Todd, additional, Balu, Saianand, additional, Bodenheimer, Tom, additional, Fan, Cheng, additional, Hoadley, Katherine A., additional, Hoyle, Alan P., additional, Jefferys, Stuart R., additional, Jones, Corbin D., additional, Meng, Shaowu, additional, Mieczkowski, Piotr A., additional, Perou, Amy H., additional, Perou, Charles M., additional, Roach, Jeffrey, additional, Shi, Yan, additional, Simons, Janae V., additional, Skelly, Tara, additional, Soloway, Matthew G., additional, Tan, Donghui, additional, Veluvolu, Umadevi, additional, Fan, Huihui, additional, Hinoue, Toshinori, additional, Laird, Peter W., additional, Bellair, Michelle, additional, Chang, Kyle, additional, Covington, Kyle, additional, Creighton, Chad J., additional, Dinh, Huyen, additional, Doddapaneni, HarshaVardhan, additional, Donehower, Lawrence A., additional, Drummond, Jennifer, additional, Gibbs, Richard A., additional, Glenn, Robert, additional, Hale, Walker, additional, Han, Yi, additional, Hu, Jianhong, additional, Korchina, Viktoriya, additional, Lee, Sandra, additional, Lewis, Lora, additional, Li, Wei, additional, Liu, Xiuping, additional, Morgan, Margaret, additional, Morton, Donna, additional, Muzny, Donna, additional, Santibanez, Jireh, additional, Sheth, Margi, additional, Shinbrot, Eve, additional, Wang, Linghua, additional, Wang, Min, additional, Wheeler, David A., additional, Xi, Liu, additional, Zhao, Fengmei, additional, Hess, Julian, additional, Appelbaum, Elizabeth L., additional, Bailey, Matthew, additional, Cordes, Matthew G., additional, Ding, Li, additional, Fronick, Catrina C., additional, Fulton, Lucinda A., additional, Fulton, Robert S., additional, Kandoth, Cyriac, additional, Mardis, Elaine R., additional, McLellan, Michael D., additional, Miller, Christopher A., additional, Schmidt, Heather K., additional, Wilson, Richard K., additional, Crain, Daniel, additional, Curley, Erin, additional, Gardner, Johanna, additional, Lau, Kevin, additional, Mallery, David, additional, Morris, Scott, additional, Paulauskis, Joseph, additional, Penny, Robert, additional, Shelton, Candace, additional, Shelton, Troy, additional, Sherman, Mark, additional, Thompson, Eric, additional, Yena, Peggy, additional, Bowen, Jay, additional, Gastier-Foster, Julie M., additional, Gerken, Mark, additional, Leraas, Kristen M., additional, Lichtenberg, Tara M., additional, Ramirez, Nilsa C., additional, Wise, Lisa, additional, Zmuda, Erik, additional, Corcoran, Niall, additional, Costello, Tony, additional, Hovens, Christopher, additional, Carvalho, Andre L., additional, de Carvalho, Ana C., additional, Fregnani, José H., additional, Longatto-Filho, Adhemar, additional, Reis, Rui M., additional, Scapulatempo-Neto, Cristovam, additional, Silveira, Henrique C.S., additional, Vidal, Daniel O., additional, Burnette, Andrew, additional, Eschbacher, Jennifer, additional, Hermes, Beth, additional, Noss, Ardene, additional, Singh, Rosy, additional, Anderson, Matthew L., additional, Castro, Patricia D., additional, Ittmann, Michael, additional, Huntsman, David, additional, Kohl, Bernard, additional, Le, Xuan, additional, Thorp, Richard, additional, Andry, Chris, additional, Duffy, Elizabeth R., additional, Lyadov, Vladimir, additional, Paklina, Oxana, additional, Setdikova, Galiya, additional, Shabunin, Alexey, additional, Tavobilov, Mikhail, additional, McPherson, Christopher, additional, Warnick, Ronald, additional, Berkowitz, Ross, additional, Cramer, Daniel, additional, Feltmate, Colleen, additional, Horowitz, Neil, additional, Kibel, Adam, additional, Muto, Michael, additional, Raut, Chandrajit P., additional, Malykh, Andrei, additional, Barnholtz-Sloan, Jill S., additional, Barrett, Wendi, additional, Devine, Karen, additional, Fulop, Jordonna, additional, Ostrom, Quinn T., additional, Shimmel, Kristen, additional, Wolinsky, Yingli, additional, Sloan, Andrew E., additional, De Rose, Agostino, additional, Giuliante, Felice, additional, Goodman, Marc, additional, Karlan, Beth Y., additional, Hagedorn, Curt H., additional, Eckman, John, additional, Harr, Jodi, additional, Myers, Jerome, additional, Tucker, Kelinda, additional, Zach, Leigh Anne, additional, Deyarmin, Brenda, additional, Kvecher, Leonid, additional, Larson, Caroline, additional, Mural, Richard J., additional, Somiari, Stella, additional, Vicha, Ales, additional, Zelinka, Tomas, additional, Bennett, Joseph, additional, Iacocca, Mary, additional, Rabeno, Brenda, additional, Swanson, Patricia, additional, Latour, Mathieu, additional, Lacombe, Louis, additional, Têtu, Bernard, additional, Bergeron, Alain, additional, McGraw, Mary, additional, Staugaitis, Susan M., additional, Chabot, John, additional, Hibshoosh, Hanina, additional, Sepulveda, Antonia, additional, Su, Tao, additional, Wang, Timothy, additional, Potapova, Olga, additional, Voronina, Olga, additional, Desjardins, Laurence, additional, Mariani, Odette, additional, Roman-Roman, Sergio, additional, Sastre, Xavier, additional, Stern, Marc-Henri, additional, Cheng, Feixiong, additional, Signoretti, Sabina, additional, Berchuck, Andrew, additional, Bigner, Darell, additional, Lipp, Eric, additional, Marks, Jeffrey, additional, McCall, Shannon, additional, McLendon, Roger, additional, Secord, Angeles, additional, Sharp, Alexis, additional, Behera, Madhusmita, additional, Brat, Daniel J., additional, Chen, Amy, additional, Delman, Keith, additional, Force, Seth, additional, Khuri, Fadlo, additional, Magliocca, Kelly, additional, Maithel, Shishir, additional, Olson, Jeffrey J., additional, Owonikoko, Taofeek, additional, Pickens, Alan, additional, Ramalingam, Suresh, additional, Shin, Dong M., additional, Sica, Gabriel, additional, Van Meir, Erwin G., additional, Zhang, Hongzheng, additional, Eijckenboom, Wil, additional, Gillis, Ad, additional, Korpershoek, Esther, additional, Looijenga, Leendert, additional, Oosterhuis, Wolter, additional, Stoop, Hans, additional, van Kessel, Kim E., additional, Zwarthoff, Ellen C., additional, Calatozzolo, Chiara, additional, Cuppini, Lucia, additional, Cuzzubbo, Stefania, additional, DiMeco, Francesco, additional, Finocchiaro, Gaetano, additional, Mattei, Luca, additional, Perin, Alessandro, additional, Pollo, Bianca, additional, Chen, Chu, additional, Houck, John, additional, Lohavanichbutr, Pawadee, additional, Hartmann, Arndt, additional, Stoehr, Christine, additional, Stoehr, Robert, additional, Taubert, Helge, additional, Wach, Sven, additional, Wullich, Bernd, additional, Kycler, Witold, additional, Murawa, Dawid, additional, Wiznerowicz, Maciej, additional, Chung, Ki, additional, Edenfield, W. Jeffrey, additional, Martin, Julie, additional, Baudin, Eric, additional, Bubley, Glenn, additional, Bueno, Raphael, additional, De Rienzo, Assunta, additional, Richards, William G., additional, Kalkanis, Steven, additional, Mikkelsen, Tom, additional, Scarpace, Lisa, additional, Girard, Nicolas, additional, Aymerich, Marta, additional, Campo, Elias, additional, Giné, Eva, additional, Guillermo, Armando López, additional, Van Bang, Nguyen, additional, Hanh, Phan Thi, additional, Phu, Bui Duc, additional, Tang, Yufang, additional, Colman, Howard, additional, Evason, Kimberley, additional, Dottino, Peter R., additional, Martignetti, John A., additional, Gabra, Hani, additional, Juhl, Hartmut, additional, Akeredolu, Teniola, additional, Stepa, Serghei, additional, Hoon, Dave, additional, Ahn, Keunsoo, additional, Kang, Koo Jeong, additional, Beuschlein, Felix, additional, Breggia, Anne, additional, Birrer, Michael, additional, Bell, Debra, additional, Borad, Mitesh, additional, Bryce, Alan H., additional, Castle, Erik, additional, Chandan, Vishal, additional, Cheville, John, additional, Copland, John A., additional, Farnell, Michael, additional, Flotte, Thomas, additional, Giama, Nasra, additional, Ho, Thai, additional, Kendrick, Michael, additional, Kocher, Jean-Pierre, additional, Kopp, Karla, additional, Moser, Catherine, additional, Nagorney, David, additional, O’Brien, Daniel, additional, O’Neill, Brian Patrick, additional, Patel, Tushar, additional, Petersen, Gloria, additional, Que, Florencia, additional, Rivera, Michael, additional, Roberts, Lewis, additional, Smallridge, Robert, additional, Smyrk, Thomas, additional, Stanton, Melissa, additional, Thompson, R. Houston, additional, Torbenson, Michael, additional, Yang, Ju Dong, additional, Zhang, Lizhi, additional, Brimo, Fadi, additional, Ajani, Jaffer A., additional, Gonzalez, Ana Maria Angulo, additional, Behrens, Carmen, additional, Bondaruk, Jolanta, additional, Broaddus, Russell, additional, Czerniak, Bogdan, additional, Esmaeli, Bita, additional, Fujimoto, Junya, additional, Gershenwald, Jeffrey, additional, Guo, Charles, additional, Logothetis, Christopher, additional, Meric-Bernstam, Funda, additional, Moran, Cesar, additional, Ramondetta, Lois, additional, Rice, David, additional, Sood, Anil, additional, Tamboli, Pheroze, additional, Thompson, Timothy, additional, Troncoso, Patricia, additional, Tsao, Anne, additional, Wistuba, Ignacio, additional, Carter, Candace, additional, Haydu, Lauren, additional, Hersey, Peter, additional, Jakrot, Valerie, additional, Kakavand, Hojabr, additional, Kefford, Richard, additional, Lee, Kenneth, additional, Long, Georgina, additional, Mann, Graham, additional, Quinn, Michael, additional, Saw, Robyn, additional, Scolyer, Richard, additional, Shannon, Kerwin, additional, Spillane, Andrew, additional, Stretch, onathan, additional, Synott, Maria, additional, Thompson, John, additional, Wilmott, James, additional, Al-Ahmadie, Hikmat, additional, Chan, Timothy A., additional, Ghossein, Ronald, additional, Gopalan, Anuradha, additional, Levine, Douglas A., additional, Reuter, Victor, additional, Singer, Samuel, additional, Singh, Bhuvanesh, additional, Tien, Nguyen Viet, additional, Broudy, Thomas, additional, Mirsaidi, Cyrus, additional, Nair, Praveen, additional, Drwiega, Paul, additional, Miller, Judy, additional, Smith, Jennifer, additional, Zaren, Howard, additional, Park, Joong-Won, additional, Hung, Nguyen Phi, additional, Kebebew, Electron, additional, Linehan, W. Marston, additional, Metwalli, Adam R., additional, Pacak, Karel, additional, Pinto, Peter A., additional, Schiffman, Mark, additional, Schmidt, Laura S., additional, Vocke, Cathy D., additional, Wentzensen, Nicolas, additional, Worrell, Robert, additional, Yang, Hannah, additional, Moncrieff, Marc, additional, Goparaju, Chandra, additional, Melamed, Jonathan, additional, Pass, Harvey, additional, Botnariuc, Natalia, additional, Caraman, Irina, additional, Cernat, Mircea, additional, Chemencedji, Inga, additional, Clipca, Adrian, additional, Doruc, Serghei, additional, Gorincioi, Ghenadie, additional, Mura, Sergiu, additional, Pirtac, Maria, additional, Stancul, Irina, additional, Tcaciuc, Diana, additional, Albert, Monique, additional, Alexopoulou, Iakovina, additional, Arnaout, Angel, additional, Bartlett, John, additional, Engel, Jay, additional, Gilbert, Sebastien, additional, Parfitt, Jeremy, additional, Sekhon, Harman, additional, Thomas, George, additional, Rassl, Doris M., additional, Rintoul, Robert C., additional, Bifulco, Carlo, additional, Tamakawa, Raina, additional, Urba, Walter, additional, Hayward, Nicholas, additional, Timmers, Henri, additional, Antenucci, Anna, additional, Facciolo, Francesco, additional, Grazi, Gianluca, additional, Marino, Mirella, additional, Merola, Roberta, additional, de Krijger, Ronald, additional, Gimenez-Roqueplo, Anne-Paule, additional, Piché, Alain, additional, Chevalier, Simone, additional, McKercher, Ginette, additional, Birsoy, Kivanc, additional, Barnett, Gene, additional, Brewer, Cathy, additional, Farver, Carol, additional, Naska, Theresa, additional, Pennell, Nathan A., additional, Raymond, Daniel, additional, Schilero, Cathy, additional, Smolenski, Kathy, additional, Williams, Felicia, additional, Morrison, Carl, additional, Borgia, Jeffrey A., additional, Liptay, Michael J., additional, Pool, Mark, additional, Seder, Christopher W., additional, Junker, Kerstin, additional, Omberg, Larsson, additional, Dinkin, Mikhail, additional, Manikhas, George, additional, Alvaro, Domenico, additional, Bragazzi, Maria Consiglia, additional, Cardinale, Vincenzo, additional, Carpino, Guido, additional, Gaudio, Eugenio, additional, Chesla, David, additional, Cottingham, Sandra, additional, Dubina, Michael, additional, Moiseenko, Fedor, additional, Dhanasekaran, Renumathy, additional, Becker, Karl-Friedrich, additional, Janssen, Klaus-Peter, additional, Slotta-Huspenina, Julia, additional, Abdel-Rahman, Mohamed H., additional, Aziz, Dina, additional, Bell, Sue, additional, Cebulla, Colleen M., additional, Davis, Amy, additional, Duell, Rebecca, additional, Elder, J. Bradley, additional, Hilty, Joe, additional, Kumar, Bahavna, additional, Lang, James, additional, Lehman, Norman L., additional, Mandt, Randy, additional, Nguyen, Phuong, additional, Pilarski, Robert, additional, Rai, Karan, additional, Schoenfield, Lynn, additional, Senecal, Kelly, additional, Wakely, Paul, additional, Hansen, Paul, additional, Lechan, Ronald, additional, Powers, James, additional, Tischler, Arthur, additional, Grizzle, William E., additional, Sexton, Katherine C., additional, Kastl, Alison, additional, Henderson, Joel, additional, Porten, Sima, additional, Waldmann, Jens, additional, Fassnacht, Martin, additional, Asa, Sylvia L., additional, Schadendorf, Dirk, additional, Couce, Marta, additional, Graefen, Markus, additional, Huland, Hartwig, additional, Sauter, Guido, additional, Schlomm, Thorsten, additional, Simon, Ronald, additional, Tennstedt, Pierre, additional, Olabode, Oluwole, additional, Nelson, Mark, additional, Bathe, Oliver, additional, Carroll, Peter R., additional, Chan, June M., additional, Disaia, Philip, additional, Glenn, Pat, additional, Kelley, Robin K., additional, Landen, Charles N., additional, Phillips, Joanna, additional, Prados, Michael, additional, Simko, Jeffry, additional, Smith-McCune, Karen, additional, VandenBerg, Scott, additional, Roggin, Kevin, additional, Fehrenbach, Ashley, additional, Kendler, Ady, additional, Sifri, Suzanne, additional, Steele, Ruth, additional, Jimeno, Antonio, additional, Carey, Francis, additional, Forgie, Ian, additional, Mannelli, Massimo, additional, Carney, Michael, additional, Hernandez, Brenda, additional, Campos, Benito, additional, Herold-Mende, Christel, additional, Jungk, Christin, additional, Unterberg, Andreas, additional, von Deimling, Andreas, additional, Bossler, Aaron, additional, Galbraith, Joseph, additional, Jacobus, Laura, additional, Knudson, Michael, additional, Knutson, Tina, additional, Ma, Deqin, additional, Milhem, Mohammed, additional, Sigmund, Rita, additional, Godwin, Andrew K., additional, Madan, Rashna, additional, Rosenthal, Howard G., additional, Adebamowo, Clement, additional, Adebamowo, Sally N., additional, Boussioutas, Alex, additional, Beer, David, additional, Giordano, Thomas, additional, Mes-Masson, Anne-Marie, additional, Saad, Fred, additional, Bocklage, Therese, additional, Landrum, Lisa, additional, Mannel, Robert, additional, Moore, Kathleen, additional, Moxley, Katherine, additional, Postier, Russel, additional, Walker, Joan, additional, Zuna, Rosemary, additional, Feldman, Michael, additional, Valdivieso, Federico, additional, Dhir, Rajiv, additional, Luketich, James, additional, Pinero, Edna M. Mora, additional, Quintero-Aguilo, Mario, additional, Carlotti, Carlos Gilberto, additional, Dos Santos, Jose Sebastião, additional, Kemp, Rafael, additional, Sankarankuty, Ajith, additional, Tirapelli, Daniela, additional, Catto, James, additional, Agnew, Kathy, additional, Swisher, Elizabeth, additional, Creaney, Jenette, additional, Robinson, Bruce, additional, Shelley, Carl Simon, additional, Godwin, Eryn M., additional, Kendall, Sara, additional, Shipman, Cassaundra, additional, Bradford, Carol, additional, Carey, Thomas, additional, Haddad, Andrea, additional, Moyer, Jeffey, additional, Peterson, Lisa, additional, Prince, Mark, additional, Rozek, Laura, additional, Wolf, Gregory, additional, Bowman, Rayleen, additional, Fong, Kwun M., additional, Yang, Ian, additional, Korst, Robert, additional, Rathmell, W. Kimryn, additional, Fantacone-Campbell, J. Leigh, additional, Hooke, Jeffrey A., additional, Kovatich, Albert J., additional, Shriver, Craig D., additional, DiPersio, John, additional, Drake, Bettina, additional, Govindan, Ramaswamy, additional, Heath, Sharon, additional, Ley, Timothy, additional, Van Tine, Brian, additional, Westervelt, Peter, additional, Rubin, Mark A., additional, Lee, Jung Il, additional, Aredes, Natália D., additional, and Mariamidze, Armaz, additional

Published
2019
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184. Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma

Author

Buffet, Alexandre, primary, Aim, Laurene Ben, additional, Leboulleux, Sophie, additional, Drui, Delphine, additional, Vezzosi, Delphine, additional, Libe, Rossella, additional, Ajzenberg, Christiane, additional, Bernardeschi, Daniele, additional, Cariou, Bertrand, additional, Chabolle, Frederic, additional, Chabre, Olivier, additional, Darrouzet, Vincent, additional, Delemer, Brigitte, additional, Desailloud, Rachel, additional, Goichot, Bernard, additional, Esvant, Annabelle, additional, Offredo, Lucile, additional, Herman, Philippe, additional, Laboureau, Sandrine, additional, Lefebvre, Herve, additional, Pierre, Peggy, additional, Raingeard, Isabelle, additional, Reznik, Yves, additional, Sadoul, Jean-Louis, additional, Hadoux, Julien, additional, Tabarin, Antoine, additional, Tauveron, Igor, additional, Zenaty, Delphine, additional, Favier, Judith, additional, Bertherat, Jerome, additional, Baudin, Eric, additional, Amar, Laurence, additional, and Gimenez-Roqueplo, Anne-Paule, additional

Published
2019
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185. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

Author

Ben Aim, Laurène, primary, Pigny, Pascal, additional, Castro-Vega, Luis Jaime, additional, Buffet, Alexandre, additional, Amar, Laurence, additional, Bertherat, Jérôme, additional, Drui, Delphine, additional, Guilhem, Isabelle, additional, Baudin, Eric, additional, Lussey-Lepoutre, Charlotte, additional, Corsini, Carole, additional, Chabrier, Gérard, additional, Briet, Claire, additional, Faivre, Laurence, additional, Cardot-Bauters, Catherine, additional, Favier, Judith, additional, Gimenez-Roqueplo, Anne-Paule, additional, and Burnichon, Nelly, additional

Published
2019
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186. Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma

Author

Job, Sylvie, primary, Draskovic, Irena, additional, Burnichon, Nelly, additional, Buffet, Alexandre, additional, Cros, Jérôme, additional, Lépine, Charles, additional, Venisse, Annabelle, additional, Robidel, Estelle, additional, Verkarre, Virginie, additional, Meatchi, Tchao, additional, Sibony, Mathilde, additional, Amar, Laurence, additional, Bertherat, Jérôme, additional, de Reyniès, Aurélien, additional, Londoño-Vallejo, Arturo, additional, Favier, Judith, additional, Castro-Vega, Luis Jaime, additional, and Gimenez-Roqueplo, Anne-Paule, additional

Published
2019
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187. Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

Author

Calsina, Bruna, primary, Castro-Vega, Luis Jaime, additional, Torres-Pérez, Rafael, additional, Inglada-Pérez, Lucía, additional, Currás-Freixes, Maria, additional, Roldán-Romero, Juan María, additional, Mancikova, Veronika, additional, Letón, Rocío, additional, Remacha, Laura, additional, Santos, María, additional, Burnichon, Nelly, additional, Lussey-Lepoutre, Charlotte, additional, Rapizzi, Elena, additional, Graña, Osvaldo, additional, Álvarez-Escolá, Cristina, additional, de Cubas, Aguirre A, additional, Lanillos, Javier, additional, Cordero-Barreal, Alfonso, additional, Martínez-Montes, Ángel M, additional, Bellucci, Alexandre, additional, Amar, Laurence, additional, Fernandes-Rosa, Fabio Luiz, additional, Calatayud, María, additional, Aller, Javier, additional, Lamas, Cristina, additional, Sastre-Marcos, Júlia, additional, Canu, Letizia, additional, Korpershoek, Esther, additional, Timmers, Henri J, additional, Lenders, Jacques WM, additional, Beuschlein, Felix, additional, Fassnacht-Capeller, Martin, additional, Eisenhofer, Graeme, additional, Mannelli, Massimo, additional, Al-Shahrour, Fátima, additional, Favier, Judith, additional, Rodríguez-Antona, Cristina, additional, Cascón, Alberto, additional, Montero-Conde, Cristina, additional, Gimenez-Roqueplo, Anne-Paule, additional, and Robledo, Mercedes, additional

Published
2019
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189. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHBand SDHD

Author

Garrett, Alice, Loveday, Chey, King, Laura, Butler, Samantha, Robinson, Rachel, Horton, Carrie, Yussuf, Amal, Choi, Subin, Torr, Beth, Durkie, Miranda, Burghel, George J., Drummond, James, Berry, Ian, Wallace, Andrew, Callaway, Alison, Eccles, Diana, Tischkowitz, Marc, Tatton-Brown, Katrina, Snape, Katie, McVeigh, Terri, Izatt, Louise, Woodward, Emma R., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Mazzarotto, Francesco, Whiffin, Nicola, Ware, James, Hanson, Helen, Pesaran, Tina, LaDuca, Holly, Buffet, Alexandre, Maher, Eamonn R., and Turnbull, Clare

Abstract

The weight of the evidence to attach to observation of a novel rare missense variant in SDHBor SDHDin individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain.

Published
2022
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190. International initiative for a curated SDHBvariant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

Author

Ben Aim, Laurene, Maher, Eamonn R, Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J, Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A, Dahia, Patricia L, Robledo, Mercedes, Bayley, Jean Pierre, and Burnichon, Nelly

Abstract

BackgroundSDHBis one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHBvariants in patients with PPGL is essential to the management of patients and relatives due to the increased risk of recurrences, metastases and the emergence of non-PPGL tumours. In this context, the ‘NGS and PPGL (NGSnPPGL) Study Group’ initiated an international effort to collect, annotate and classify SDHBvariants and to provide an accurate, expert-curated and freely available SDHBvariant database.MethodsA total of 223 distinct SDHBvariants from 737 patients were collected worldwide. Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and NGSnPPGL standardised recommendations and was then manually reviewed by a panel of experts in the field.ResultsThis multistep process resulted in 23 benign/likely benign, 149 pathogenic/likely pathogenic variants and 51 variants of unknown significance (VUS). Expert curation reduced by half the number of variants initially classified as VUS. Variant classifications are publicly accessible via the Leiden Open Variation Database system (https://databases.lovd.nl/shared/genes/SDHB).ConclusionThis international initiative by a panel of experts allowed us to establish a consensus classification for 223 SDHBvariants that should be used as a routine tool by geneticists in charge of PPGL laboratory diagnosis. This accurate classification of SDHBgenetic variants will help to clarify the diagnosis of hereditary PPGL and to improve the clinical care of patients and relatives with PPGL.

Published
2022
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191. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Author

Calsina, Bruna, primary, Currás-Freixes, Maria, additional, Buffet, Alexandre, additional, Pons, Tirso, additional, Contreras, Laura, additional, Letón, Rocío, additional, Comino-Méndez, Iñaki, additional, Remacha, Laura, additional, Calatayud, María, additional, Obispo, Berta, additional, Martin, Antoine, additional, Cohen, Regis, additional, Richter, Susan, additional, Balmaña, Judith, additional, Korpershoek, Esther, additional, Rapizzi, Elena, additional, Deutschbein, Timo, additional, Vroonen, Laurent, additional, Favier, Judith, additional, de Krijger, Ronald R., additional, Fassnacht, Martin, additional, Beuschlein, Felix, additional, Timmers, Henri J., additional, Eisenhofer, Graeme, additional, Mannelli, Massimo, additional, Pacak, Karel, additional, Satrústegui, Jorgina, additional, Rodríguez-Antona, Cristina, additional, Amar, Laurence, additional, Cascón, Alberto, additional, Dölker, Nicole, additional, Gimenez-Roqueplo, Anne-Paule, additional, and Robledo, Mercedes, additional

Published
2018
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193. Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.

Author

Saie, Clotilde, Buffet, Alexandre, Abeillon, Juliette, Drui, Delphine, Leboulleux, Sophie, Bertherat, Jérôme, Zenaty, Delphine, Storey, Caroline, Borson-Chazot, Françoise, Burnichon, Nelly, Vincent, Marie, Favier, Judith, Baudin, Eric, Giraud, Sophie, Gimenez-Roqueplo, Anne-Paule, Amar, Laurence, and Lussey-Lepoutre, Charlotte

Subjects
MAGNETIC resonance imaging, MAGNETIC resonance angiography, POSITRON emission tomography, COMPUTED tomography, RADIONUCLIDE imaging, PROTEINS, RESEARCH, GENETIC mutation, RESEARCH methodology, RETROSPECTIVE studies, EARLY detection of cancer, MEDICAL screening, MEDICAL cooperation, EVALUATION research, GENETIC carriers, COMPARATIVE studies, PHEOCHROMOCYTOMA, SYMPTOMS, PARAGANGLIOMA, OXIDOREDUCTASES, ADRENAL tumors, GENETIC techniques, ROUTINE diagnostic tests, LONGITUDINAL method
Abstract

Context: When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening protocols.Objective: To define the tumor detection rate in a large cohort of asymptomatic SDHX mutation carriers.Design and Setting: Retrospective multicentric study in 6 referral centers.Patients: Between 2005 and 2019, 249 asymptomatic SDHx (171 SDHB, 31 SDHC, 47 SDHD) mutation carriers, with at least 1 imaging work-up were enrolled.Results: Initial work-up, including anatomical (98% of subjects [97-100% according to center]) and/or functional imaging (67% [14-90%]) detected 48 tumors in 40 patients. After a negative initial work-up, 124 patients benefited from 1 to 9 subsequent follow-up assessments (mean: 1.9 per patient), with a median follow-up time of 5 (1-13) years. Anatomical (86% [49-100 %]) and/or functional imaging (36% [7-60 %]) identified 10 new tumors (mean size: 16 mm [4-50]) in 10 patients. Altogether, 58 tumors (55 paraganglioma [PGL], including 45 head and neck PGL, 2 pheochromocytoma [PCC], 1 gastrointestinal stromal tumor [GIST]), were detected in 50 patients (22 [13%] SDHB, 1 [3.2%] SDHC, and 27 [57%] SDHD), with a median age of 41 years old [11-86], 76% without catecholamine secretion and 80% during initial imaging work-up.Conclusions: Imaging screening enabled detection of tumors in 20% of asymptomatic SDHx mutation carriers, with a higher detection rate in SDHD (57%) than in SDHB (13%) and SDHC (3%) mutation carriers, arguing for a gene-by-gene approach. Prospective studies using well-defined protocols are needed to obtain strong and useful data. [ABSTRACT FROM AUTHOR]

Published
2021
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194. Fibromuscular dysplasia

Author

Jeunemaitre Xavier, Gimenez-Roqueplo Anne-Paule, Boutouyrie Pierre, Perdu Jérôme, La Batide-Alanore Agnès, and Plouin Pierre-François

Subjects
Medicine
Abstract

Abstract Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include atherosclerotic stenoses and stenoses associated with vascular Ehlers-Danlos and Williams' syndromes, and type 1 neurofibromatosis. Management of cases with renovascular hypertension includes antihypertensive therapy, percutaneous angioplasty of severe stenoses, and reconstructive surgery in cases with complex FMD that extends to segmental arteries. The therapeutic options for securing ruptured intracerebral aneurysms are microvascular neurosurgical clipping and endovascular coiling. Stenosis progression in renal artery FMD is slow and rarely leads to ischemic renal failure.

Published
2007
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195. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Author

Calsina, Bruna, Curras-Freixes, M., Buffet, A., Pons, Tirso, Contreras, Laura, Leton, Rocio, Timmers, H.J., Gimenez-Roqueplo, Anne-Paule, Robledo, M., Calsina, Bruna, Curras-Freixes, M., Buffet, A., Pons, Tirso, Contreras, Laura, Leton, Rocio, Timmers, H.J., Gimenez-Roqueplo, Anne-Paule, and Robledo, M.

Abstract

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Published
2018

196. Identification of a new exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Author

UCL - (SLuc) Centre de génétique médicale UCL, Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J L, Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R, Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C, Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty, UCL - (SLuc) Centre de génétique médicale UCL, Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J L, Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R, Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C, Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, and Gardie, Betty

Abstract

Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau () gene. Since this discovery, additional mutations have been identified in patients with congenital erythrocytosis, in a homozygous or compound-heterozygous state. is a major tumor suppressor gene, mutations in which were first described in patients presenting with VHL disease, which is characterized by the development of highly vascularized tumors. Here, we identify a new cryptic exon (termed E1') deep in intron 1 that is naturally expressed in many tissues. More importantly, we identify mutations in E1' in 7 families with erythrocytosis (1 homozygous case and 6 compound-heterozygous cases with a mutation in E1' in addition to a mutation in coding sequences) and in 1 large family with typical VHL disease but without any alteration in the other exons. In this study, we show that the mutations induced a dysregulation of splicing with excessive retention of E1' and were associated with a downregulation of VHL protein expression. In addition, we demonstrate a pathogenic role for synonymous mutations in exon 2 that altered splicing through E2-skipping in 5 families with erythrocytosis or VHL disease. In all the studied cases, the mutations differentially affected splicing, correlating with phenotype severity. This study demonstrates that cryptic exon retention and exon skipping are new alterations and reveals a novel complex splicing regulation of the gene. These findings open new avenues for diagnosis and research regarding the VHL-related hypoxia-signaling pathway.

Published
2018

197. Pheochromocytomas and secreting paragangliomas

Author

Gimenez-Roqueplo Anne-Paule and Plouin Pierre-François

Subjects
Medicine
Abstract

Abstract Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension and 4% in patients with a fortuitously discovered adrenal mass. An increase in the production of catecholamines causes symptoms (mainly headaches, palpitations and excess sweating) and signs (mainly hypertension, weight loss and diabetes) reflecting the effects of epinephrine and norepinephrine on α- and β-adrenergic receptors. Catecholamine-producing tumors mimic paroxysmal conditions with hypertension and/or cardiac rhythm disorders, including panic attacks, in which sympathetic activation linked to anxiety reproduces the same signs and symptoms. These tumors may be sporadic or part of any of several genetic diseases: familial pheochromocytoma-paraganglioma syndromes, multiple endocrine neoplasia type 2, neurofibromatosis 1 and von Hippel-Lindau disease. Familial cases are diagnosed earlier and are more frequently bilateral and recurring than sporadic cases. The most specific and sensitive diagnostic test for the tumor is the determination of plasma or urinary metanephrines. The tumor can be located by computed tomography, magnetic resonance imaging and metaiodobenzylguanidine scintigraphy. Treatment requires resection of the tumor, generally by laparoscopic surgery. About 10% of tumors are malignant either at first operation or during follow-up, malignancy being diagnosed by the presence of lymph node, visceral or bone metastases. Recurrences and malignancy are more frequent in cases with large or extraadrenal tumors. Patients, especially those with familial or extraadrenal tumors, should be followed-up indefinitely.

Published
2006
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198. Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.

Author

Buffet, Alexandre, Juan Zhang, Rebel, Heggert, Corssmit, Eleonora P. M., Jansen, Jeroen C., Hensen, Erik F., Bovée, Judith V. M. G., Morini, Aurélien, Gimenez-Roqueplo, Anne-Paule, Hes, Frederik J., Devilee, Peter, Favier, Judith, and Bayley, Jean-Pierre

Subjects
GERM cells, EPIGENETICS, SERTOLI cells, MEDICAL genetics, MULTIENZYME complexes, HETEROZYGOSITY
Published
2021
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199. The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas

Author

Oudijk, Lindsey, Papathomas, Thomas, de Krijger, Ronald, Korpershoek, Esther, Gimenez-Roqueplo, Anne Paule, Favier, Judith, Canu, Letizia, Mannelli, Massimo, Rapa, Ida, Currás-Freixes, Maria, Robledo, Mercedes, Smid, Marcel, Papotti, Mauro, Volante, Marco, Pathology, and Medical Oncology

Subjects
Paraganglioma, Cellular and Molecular Neuroscience, Endocrinology, Endocrine and Autonomic Systems, Endocrinology, Diabetes and Metabolism, mTOR, Journal Article, Pheochromocytoma, Succinate Dehydrogenase complex
Abstract

AIM: We aimed at exploring the activation pattern of the mTOR pathway in sporadic and hereditary pheochromocytomas (PCCs) and paragangliomas (PGLs). METHODS: A total of 178 PCCs and 44 PGLs, already characterized for the presence of germline mutations in VHL, RET, NF1, MAX, SDHA, SDHB, SDHC, and SDHD as well as somatic mutations in VHL, RET, H-RAS, and MAX, were included in 5 tissue microarrays and tested using immunohistochemistry for mTOR and Rictor as well as the phosphorylated forms of mTOR, p70S6K, AMPK, AKT, 4EBP1, S6, and Raptor. RESULTS: The positive correlation among most of the molecules investigated proved the functional activation of the mTOR pathway in PCCs/PGLs. Total mTOR, p-S6K and p-S6, and mTORC1-associated molecules p-Raptor and p-AMPK were all significantly overexpressed in PGLs rather than in PCCs, and in the head and neck rather than in abdominal locations. None of the markers, except for the low expression of p-mTOR, was associated with malignancy. Cluster 1 PCCs/PGLs had higher total mTOR, p-Raptor, and p-S6 expression than cluster 2 PCCs/PGLs. In contrast, p-mTOR and mTORC2-associated molecule Rictor were significantly overexpressed in cluster 2 tumors. Within cluster 1, molecules active in the mTORC1 complex were significantly overexpressed in SDHX- as compared to VHL-mutated tumors. CONCLUSION: In summary, the mTOR pathway is activated in a high proportion of PCCs/PGLs, with a preferential overactivation of the mTORC1 complex in PGLs of the head and neck and/or harboring SDHX mutations.

Published
2017

200. International consensus on initial screening and follow-up of asymptomatic SDHxmutation carriers

Author

Amar, Laurence, Pacak, Karel, Steichen, Olivier, Akker, Scott A., Aylwin, Simon J. B., Baudin, Eric, Buffet, Alexandre, Burnichon, Nelly, Clifton-Bligh, Roderick J., Dahia, Patricia L. M., Fassnacht, Martin, Grossman, Ashley B., Herman, Philippe, Hicks, Rodney J., Januszewicz, Andrzej, Jimenez, Camilo, Kunst, Henricus P. M., Lewis, Dylan, Mannelli, Massimo, Naruse, Mitsuhide, Robledo, Mercedes, Taïeb, David, Taylor, David R., Timmers, Henri J. L. M., Treglia, Giorgio, Tufton, Nicola, Young, William F., Lenders, Jacques W. M., Gimenez-Roqueplo, Anne-Paule, and Lussey-Lepoutre, Charlotte

Abstract

Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHCand SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHxmutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHxmutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging screening at diagnosis and during surveillance for both adults and children. An international panel of 29 experts from 12 countries was assembled, and the Delphi method was used to reach a consensus on 41 statements. This Consensus Statement covers a range of topics, including age of first genetic testing, appropriate biochemical and imaging tests for initial tumour screening and follow-up, screening for rare SDHx-related tumours and management of elderly people who have an SDHxmutation. This Consensus Statement focuses on the management of asymptomatic SDHxmutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.

Published
2021
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