Gimenez-Roqueplo AP - Search Results

1

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

Lussey-Lepoutre C, Bellucci A, Morin A, Buffet A, Amar L, Janin M, Ottolenghi C, Zinzindohoué F, Autret G, Burnichon N, Robidel E, Banting B, Fontaine S, Cuenod CA, Benit P, Rustin P, Halimi P, Fournier L, Gimenez-Roqueplo AP, Favier J, Tavitian B. Lussey-Lepoutre C, et al. Clin Cancer Res. 2016 Mar 1;22(5):1120-9. doi: 10.1158/1078-0432.CCR-15-1576. Epub 2015 Oct 21. Clin Cancer Res. 2016. PMID: 26490314 Free article.

2

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 AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X. Gimenez-Roqueplo AP, et al. Am J Hum Genet. 2001 Dec;69(6):1186-97. doi: 10.1086/324413. Epub 2001 Oct 16. Am J Hum Genet. 2001. PMID: 11605159 Free PMC article.

3

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rötig A, Jeunemaitre X. Gimenez-Roqueplo AP, et al. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525. J Clin Endocrinol Metab. 2002. PMID: 12364472

4

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Gimenez-Roqueplo AP, et al. Cancer Res. 2003 Sep 1;63(17):5615-21. Cancer Res. 2003. PMID: 14500403

5

Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma.

Amar L, Servais A, Gimenez-Roqueplo AP, Zinzindohoue F, Chatellier G, Plouin PF. Amar L, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2110-6. doi: 10.1210/jc.2004-1398. Epub 2005 Jan 11. J Clin Endocrinol Metab. 2005. PMID: 15644401

6

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

Favier J, Brière JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP; PGL.NET Network. Favier J, et al. Horm Res. 2005;63(4):171-9. doi: 10.1159/000084685. Epub 2005 Mar 24. Horm Res. 2005. PMID: 15795514 Review.

7

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Brière JJ, Favier J, Bénit P, El Ghouzzi V, Lorenzato A, Rabier D, Di Renzo MF, Gimenez-Roqueplo AP, Rustin P. Brière JJ, et al. Hum Mol Genet. 2005 Nov 1;14(21):3263-9. doi: 10.1093/hmg/ddi359. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195397

8

Genetic testing in pheochromocytoma or functional paraganglioma.

Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641

9

Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.

Brière JJ, Favier J, Gimenez-Roqueplo AP, Rustin P. Brière JJ, et al. Am J Physiol Cell Physiol. 2006 Dec;291(6):C1114-20. doi: 10.1152/ajpcell.00216.2006. Epub 2006 Jun 7. Am J Physiol Cell Physiol. 2006. PMID: 16760265 Free article. Review.

10

New advances in the genetics of pheochromocytoma and paraganglioma syndromes.

Gimenez-Roqueplo AP. Gimenez-Roqueplo AP. Ann N Y Acad Sci. 2006 Aug;1073:112-21. doi: 10.1196/annals.1353.012. Ann N Y Acad Sci. 2006. PMID: 17102078

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