Gimenez-Roqueplo AP - Search Results

1

SDHB mutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma.

Hadoux J, Favier J, Scoazec JY, Leboulleux S, Al Ghuzlan A, Caramella C, Déandreis D, Borget I, Loriot C, Chougnet C, Letouzé E, Young J, Amar L, Bertherat J, Libé R, Dumont F, Deschamps F, Schlumberger M, Gimenez-Roqueplo AP, Baudin E. Hadoux J, et al. Int J Cancer. 2014 Dec 1;135(11):2711-20. doi: 10.1002/ijc.28913. Epub 2014 May 5. Int J Cancer. 2014. PMID: 24752622

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

Effects of slow-release octreotide on urinary metanephrine excretion and plasma chromogranin A and catecholamine levels in patients with malignant or recurrent phaeochromocytoma.

Lamarre-Cliche M, Gimenez-Roqueplo AP, Billaud E, Baudin E, Luton JP, Plouin PF. Lamarre-Cliche M, et al. Clin Endocrinol (Oxf). 2002 Nov;57(5):629-34. doi: 10.1046/j.1365-2265.2002.01658.x. Clin Endocrinol (Oxf). 2002. PMID: 12390337

5

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

6

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

7

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 Free article. Review.

8

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

9

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

10

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Benn DE, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. doi: 10.1210/jc.2005-1862. Epub 2005 Nov 29. J Clin Endocrinol Metab. 2006. PMID: 16317055

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