Mitochondrial Deficiencies in the Predisposition to Paraganglioma

অনুযায়ী Lussey-Lepoutre, Charlotte, Buffet, Alexandre, Gimenez-Roqueplo, Anne-Paule, Favier, Judith
প্রকাশিত Metabolites (2017)

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

অনুযায়ী Tramunt, Blandine, Buffet, Alexandre, Grunenwald, Solange, Vezzosi, Delphine, Bennet, Antoine, Huyghe, Eric, Zerdoud, Slimane, Caron, Philippe
প্রকাশিত Clin Case Rep (2016)

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

অনুযায়ী Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé
প্রকাশিত Eur J Hum Genet (2015)

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

অনুযায়ী 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
প্রকাশিত Nat Commun (2015)

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

অনুযায়ী 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
প্রকাশিত J Med Genet (2020)

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

অনুযায়ী Calsina, Bruna, Currás-Freixes, Maria, Buffet, Alexandre, Pons, Tirso, Contreras, Laura, Letón, Rocío, Méndez, Iñaki Comino, Remacha, Laura, Calatayud, María, Obispo, Berta, Martin, Antoine, Cohen, Regis, Richter, Susan, Balmaña, Judith, Korpershoek, Esther, Rapizzi, Elena, Deutschbein, Timo, Vroonen, Laurent, Favier, Judith, de Krijger, Ronald R., Fassnacht, Martin, Beuschlein, Felix, Timmers, Henri J., Eisenhofer, Graeme, Mannelli, Massimo, Pacak, Karel, Satrústegui, Jorgina, Rodríguez-Antona, Cristina, Amar, Laurence, Cascón, Alberto, Dölker, Nicole, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes
প্রকাশিত Genet Med (2018)

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

অনুযায়ী 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
প্রকাশিত Nat Rev Endocrinol (2021)