A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL

di Bourdeau, Isabelle, Grunenwald, Solange, Burnichon, Nelly, Khalifa, Emmanuel, Dumas, Nadine, Binet, Marie-Claire, Nolet, Serge, Gimenez-Roqueplo, Anne-Paule
Pubblicato in J Clin Endocrinol Metab (2016)

Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

di Letouzé, Eric, Sow, Aliou, Petel, Fabien, Rosati, Roberto, Figueiredo, Bonald C., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Lalli, Enzo, de Reyniès, Aurélien
Pubblicazione 2012

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...

di Salle, Stefanie Parisien-La, Dumas, Nadine, Jolin, Judith, Nolet, Serge, Lacroix, André, Lévesque, Isabelle, Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Bourdeau, Isabelle
Pubblicato in J Endocr Soc (2020)

Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking

di Flores, Shahida K, Deng, Yilun, Cheng, Ziming, Zhang, Xingyu, Tao, Sifan, Saliba, Afaf, Chu, Irene, Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Wang, Exing, Aguiar, Ricardo C T, Dahia, Patricia L M
Pubblicato in J Clin Endocrinol Metab (2020)

SDHA is a tumor suppressor gene causing paraganglioma

di 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, Gimenez-Roqueplo, Anne-Paule
Pubblicazione 2010

Overexpression of miR‐483‐5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma

di Castro‐Vega, Luis Jaime, Calsina, Bruna, Burnichon, Nelly, Drossart, Tom, Martínez‐Montes, Ángel M, Verkarre, Virginie, Amar, Laurence, Bertherat, Jérôme, Rodríguez‐Antona, Cristina, Favier, Judith, Robledo, Mercedes, Gimenez‐Roqueplo, Anne‐Paule
Pubblicato in Clin Transl Med (2020)

The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas

di Favier, Judith, Brière, Jean-Jacques, Burnichon, Nelly, Rivière, Julie, Vescovo, Laure, Benit, Paule, Giscos-Douriez, Isabelle, De Reyniès, Aurélien, Bertherat, Jérôme, Badoual, Cécile, Tissier, Frédérique, Amar, Laurence, Libé, Rosella, Plouin, Pierre-François, Jeunemaitre, Xavier, Rustin, Pierre, Gimenez-Roqueplo, Anne-Paule
Pubblicazione 2009

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

di Castro-Vega, Luis Jaime, Letouzé, Eric, Burnichon, Nelly, Buffet, Alexandre, Disderot, Pierre-Hélie, Khalifa, Emmanuel, Loriot, Céline, Elarouci, Nabila, Morin, Aurélie, Menara, Mélanie, Lepoutre-Lussey, Charlotte, Badoual, Cécile, Sibony, Mathilde, Dousset, Bertrand, Libé, Rossella, Zinzindohoue, Franck, Plouin, Pierre François, Bertherat, Jérôme, Amar, Laurence, de Reyniès, Aurélien, Favier, Judith, Gimenez-Roqueplo, Anne-Paule
Pubblicato in Nat Commun (2015)

Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2

di 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, Neumann, Hartmut P. H.
Pubblicazione 2009

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

di Buffet, Alexandre, Calsina, Bruna, Flores, Shahida, Giraud, Sophie, Lenglet, Marion, Romanet, Pauline, Deflorenne, Elisa, Aller, Javier, Bourdeau, Isabelle, Bressac-de Paillerets, Brigitte, Calatayud, María, Dehais, Caroline, De Mones Del Pujol, Erwan, Elenkova, Atanaska, Herman, Philippe, Kamenický, Peter, Lejeune, Sophie, Sadoul, Jean Louis, Barlier, Anne, Richard, Stephane, Favier, Judith, Burnichon, Nelly, Gardie, Betty, Dahia, Patricia L, Robledo, Mercedes, Gimenez-Roqueplo, Anne-Paule
Pubblicato in J Med Genet (2020)

International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers

di 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, Lussey-Lepoutre, Charlotte
Pubblicato in Nat Rev Endocrinol (2021)

Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update

di Armaiz-Pena, Gustavo, Flores, Shahida K, Cheng, Zi-Ming, Zhang, Xhingyu, Esquivel, Emmanuel, Poullard, Natalie, Vaidyanathan, Anusha, Liu, Qianqian, Michalek, Joel, Santillan-Gomez, Alfredo A, Liss, Michael, Ahmadi, Sara, Katselnik, Daniel, Maldonado, Enrique, Salgado, Sarimar Agosto, Jimenez, Camilo, Fishbein, Lauren, Hamidi, Oksana, Else, Tobias, Lechan, Ron, Tischler, Art S, Benn, Diana E, Dwight, Trisha, Clifton-Bligh, Rory, Sanso, Gabriela, Barontini, Marta, Vincent, Deepa, Aronin, Neil, Biondi, Bernadette, Koops, Maureen, Bowhay-Carnes, Elizabeth, Gimenez-Roqueplo, Anne-Paule, Alvarez-Eslava, Andrea, Bruder, Jan M, Kitano, Mio, Burnichon, Nelly, Ding, Yanli, Dahia, Patricia L M
Pubblicato in J Clin Endocrinol Metab (2020)

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

di Pujol, Pascal, Vande Perre, Pierre, Faivre, Laurence, Sanlaville, Damien, Corsini, Carole, Baertschi, Bernard, Anahory, Michèle, Vaur, Dominique, Olschwang, Sylviane, Soufir, Nadem, Bastide, Noëlle, Amar, Sarah, Vintraud, Michèle, Ingster, Olivier, Richard, Stéphane, Le Coz, Pierre, Spano, Jean-Philippe, Caron, Olivier, Hammel, Pascal, Luporsi, Elisabeth, Toledano, Alain, Rebillard, Xavier, Cambon-Thomsen, Anne, Putois, Olivier, Rey, Jean-Marc, Hervé, Christian, Zorn, Caroline, Baudry, Karen, Galibert, Virginie, Gligorov, Joseph, Azria, David, Bressac-de Paillerets, Brigitte, Burnichon, Nelly, Spielmann, Marc, Zarca, Daniel, Coupier, Isabelle, Cussenot, Olivier, Gimenez-Roqueplo, Anne-Paule, Giraud, Sophie, Lapointe, Anne-Sophie, Niccoli, Patricia, Raingeard, Isabelle, Le Bidan, Muriel, Frebourg, Thierry, Rafii, Arash, Geneviève, David
Pubblicato in Eur J Hum Genet (2018)

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

di Calsina, Bruna, Castro-Vega, Luis Jaime, Torres-Pérez, Rafael, Inglada-Pérez, Lucía, Currás-Freixes, Maria, Roldán-Romero, Juan María, Mancikova, Veronika, Letón, Rocío, Remacha, Laura, Santos, María, Burnichon, Nelly, Lussey-Lepoutre, Charlotte, Rapizzi, Elena, Graña, Osvaldo, Álvarez-Escolá, Cristina, de Cubas, Aguirre A, Lanillos, Javier, Cordero-Barreal, Alfonso, Martínez-Montes, Ángel M, Bellucci, Alexandre, Amar, Laurence, Fernandes-Rosa, Fabio Luiz, Calatayud, María, Aller, Javier, Lamas, Cristina, Sastre-Marcos, Júlia, Canu, Letizia, Korpershoek, Esther, Timmers, Henri J, Lenders, Jacques WM, Beuschlein, Felix, Fassnacht-Capeller, Martin, Eisenhofer, Graeme, Mannelli, Massimo, Al-Shahrour, Fátima, Favier, Judith, Rodríguez-Antona, Cristina, Cascón, Alberto, Montero-Conde, Cristina, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes
Pubblicato in Theranostics (2019)