Rethinking pheochromocytomas and paragangliomas from a genomic perspective von Castro-Vega, L J, Lepoutre-Lussey, C, Gimenez-Roqueplo, A-P, Favier, J

Volltext

European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma von Plouin, P F, Amar, L, Dekkers, O M, Fassnacht, M, Gimenez-Roqueplo, A P, Lenders, J W M, Lussey-Lepoutre, C, Steichen, O

Volltext

Malignant head/neck paragangliomas. Comparative Study von Mediouni, A, Ammari, S, Wassef, M, Gimenez-Roqueplo, A.-P, Laredo, J.-D, Duet, M, Tran Ba Huy, P, Oker, N

Volltext

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers von Muller, M., Ferlicot, S., Guillaud‐Bataille, M., Le Teuff, G., Genestie, C., Deveaux, S., Slama, A., Poulalhon, N., Escudier, B., Albiges, L., Soufir, N., Avril, M.‐F., Gardie, B., Saldana, C., Allory, Y., Gimenez‐Roqueplo, A.‐P., Bressac‐de Paillerets, B., Richard, S., Benusiglio, P.R.

Volltext

The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathw... von Gimenez-Roqueplo, Anne-Paule, Favier, Judith, Rustin, Pierre, Mourad, Jean-Jacques, Plouin, Pierre-François, Corvol, Pierre, Rötig, Agnès, Jeunemaitre, Xavier

Volltext

The genetics of paragangliomas von Burnichon, N, Abermil, N, Buffet, A, Favier, J, Gimenez-Roqueplo, A.-P

Volltext

Inheritance of arterial lesions in renal fibromuscular dysplasia von Perdu, J, Boutouyrie, P, Bourgain, C, Stern, N, Laloux, B, Bozec, E, Azizi, M, Bonaiti-Pellié, C, Plouin, P-F, Laurent, S, Gimenez-Roqueplo, A-P, Jeunemaitre, X

Volltext

Penetrance and clinical consequences of a gross SDHB deletion in a large family von Solis, DC, Burnichon, N, Timmers, HJLM, Raygada, MJ, Kozupa, A, Merino, MJ, Makey, D, Adams, KT, Venisse, A, Gimenez-Roqueplo, A-P, Pacak, K

Volltext

Phaeochromocytoma and paraganglioma von Cornu, E, Belmihoub, I, Burnichon, N, Grataloup, C, Zinzindohoué, F, Baron, S, Billaud, E, Azizi, M, Gimenez-Roqueplo, A-P, Amar, L

Volltext

New Insights in the Genetics of Adrenocortical Tumors, Pheochromocytomas and Paragangliomas von Bertherat, J., Gimenez-Roqueplo, A.-P.

Volltext

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas von GIMENEZ-ROQUEPLO, Anne-Paule, FAVIER, Judith, RUSTIN, Pierre, RIEUBLAND, Claudine, CRESPIN, Malvina, NAU, Valérie, VAN KIEN, Philippe Khau, CORVOL, Pierre, PLOUIN, Pierre-Francois, JEUNEMAITRE, Xavier

Volltext

Seven Lessons From Two Candidate Genes in Human Essential Hypertension: Angiotensinogen and Epithelial Sodium Channel von Corvol, Pierre, Persu, Alexandre, Gimenez-Roqueplo, Anne-Paule, Jeunemaitre, Xavier

Volltext

A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION von Elenkova, A, Robeva, R, Gimenez-Roqueplo, A P, Zacharieva, S

Volltext

Immunohistochemical expression of stem cell markers in pheochromocytomas/paragangliomas is associated with SDHx mutations von Oudijk, L, Neuhofer, C M, Lichtenauer, U D, Papathomas, T G, Korpershoek, E, Stoop, H, Oosterhuis, J W, Smid, M, Restuccia, D F, Robledo, M, de Cubas, A A, Mannelli, M, Gimenez-Roqueplo, A P, Dinjens, W N M, Beuschlein, F, de Krijger, R R

Volltext

Screening in asymptomatic SDHx mutation carriers: added value of 18F-FDG PET/CT at initial diagnosis and 1-year follow-up von Lepoutre-Lussey, C., Caramella, C., Bidault, F., Déandreis, D., Berdelou, A., Al Ghuzlan, A., Hartl, D., Borget, I., Gimenez-Roqueplo, A.-P., Dumont, F., Deschamps, F., Nascimento, C., Lumbroso, J., Guillaud Bataille, M., Schlumberger, M., Baudin, E., Leboulleux, S.

Volltext

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

Volltext

La génétique des paragangliomes von Burnichon, N., Abermil, N., Buffet, A., Favier, J., Gimenez-Roqueplo, A.-P.

Volltext

Year of Diagnosis, Features at Presentation, and Risk of Recurrence in Patients with Pheochromocytoma or Secreting Paraganglioma von Amar, Laurence, Servais, Aude, Gimenez-Roqueplo, Anne-Paule, Zinzindohoue, Franck, Chatellier, Gilles, Plouin, Pierre-François

Volltext

Haplotypes of Angiotensinogen in Essential Hypertension von Jeunemaitre, Xavier, Inoue, Ituro, Williams, Christopher, Charru, Anne, Tichet, Jean, Powers, Mike, Sharma, Arya Mitra, Gimenez-Roqueplo, Anne-Paule, Hata, Akira, Corvol, Pierre, Lalouel, Jean-Marc

Volltext

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia von Ladroue, Charline, Hoogewijs, David, Gad, Sophie, Carcenac, Romain, Storti, Federica, Barrois, Michel, Gimenez-Roqueplo, Anne-Paule, Leporrier, Michel, Casadevall, Nicole, Hermine, Olivier, Kiladjian, Jean-Jacques, Baruchel, André, Fakhoury, Fadi, Bressac-de Paillerets, Brigitte, Feunteun, Jean, Mazure, Nathalie, Pouysségur, Jacques, Wenger, Roland H, Richard, Stéphane, Gardie, Betty

Volltext