Mitochondrial Deficiencies in the Predisposition to Paraganglioma

por Lussey-Lepoutre, Charlotte, Buffet, Alexandre, Gimenez-Roqueplo, Anne-Paule, Favier, Judith
Publicado 2017

L’incidence des traumatismes de la main a-t-elle diminué pendant les confinements dans le contexte épidémique COVID-19? Etude cas-témoin dans un centre SOS main français

por Buffet, Alexandre, Bouteille, Camille, Fageot, Julien, Obert, Laurent, Loisel, François, Pluvy, Isabelle
Publicado 2021

Local recurrence of pheochromocytoma in multiple endocrine neoplasia type 2A: a diagnostic and therapeutic challenge

por Tramunt, Blandine, Buffet, Alexandre, Grunenwald, Solange, Vezzosi, Delphine, Bennet, Antoine, Huyghe, Eric, Zerdoud, Slimane, Caron, Philippe
Publicado 2016

RF33 | PSUN04 Luteinizing Hormone-Chorionic Gonadotrophin Receptor in Pheochromocytomas

por Lopez, Antoine-Guy, Duparc, Céline, Renouf, Sylvie, Machevin, Elise, Guillou, Vincent L, Sabourin, Jean-Christophe, Defortescu, Guillaume, Buffet, Alexandre, Gimenez-Roqueplo, Anne-Paule, Dubessy, Christophe, Lefebvre, Hervé, Louiset, Estelle
Publicado 2022

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

por 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
Publicado 2015

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

por Karaghiannis, Valéna, Maric, Darko, Garrec, Céline, Maaziz, Nada, Buffet, Alexandre, Schmitt, Loïc, Antunes, Vincent, Airaud, Fabrice, Aral, Bernard, Le Roy, Amandine, Corbineau, Sébastien, Mansour-Hendili, Lamisse, Lesieur, Valentine, Rimbert, Antoine, Laporte, Fabien, Delamare, Marine, Rab, Minke, Bézieau, Stéphane, Cassinat, Bruno, Galacteros, Frédéric, Gimenez-Roqueplo, Anne-Paule, Burnichon, Nelly, Cario, Holger, van Wijk, Richard, Bento, Celeste, Girodon, François, Hoogewijs, David, Gardie, Betty
Publicado 2023

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

por 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
Publicado 2020

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

por 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., Turnbull, Clare
Publicado 2022

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

por 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
Publicado 2021