A.P. Gimenez-Roqueplo
Département de Génétique Moléculaire
Hôpital Européen Georges Pompidou
Assistance Publique/Hôpitaux de Paris
Paris
France
[email]@hop.egp.ap-hop-paris.fr
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- New advances in the genetics of pheochromocytoma and paraganglioma syndromes. Gimenez-Roqueplo, A.P. Ann. N. Y. Acad. Sci. (2006)
- Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Gimenez-Roqueplo, A.P., Favier, J., Rustin, P., Rieubland, C., Crespin, M., Nau, V., Khau Van Kien, P., Corvol, P., Plouin, P.F., Jeunemaitre, X. Cancer Res. (2003)
- Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. Gimenez-Roqueplo, A.P., Favier, J., Rustin, P., Rieubland, C., Kerlan, V., Plouin, P.F., Rötig, A., Jeunemaitre, X. J. Clin. Endocrinol. Metab. (2002)
- 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 pathway. Gimenez-Roqueplo, A.P., Favier, J., Rustin, P., Mourad, J.J., Plouin, P.F., Corvol, P., Rötig, A., Jeunemaitre, X. Am. J. Hum. Genet. (2001)