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An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.
Gimenez-Roqueplo AP, Dahia PL, Robledo M. Gimenez-Roqueplo AP, et al. Among authors: dahia pl. Horm Metab Res. 2012 May;44(5):328-33. doi: 10.1055/s-0031-1301302. Epub 2012 Feb 10. Horm Metab Res. 2012. PMID: 22328163 Review.
Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas.
Aguiar RC, Cox G, Pomeroy SL, Dahia PL. Aguiar RC, et al. Among authors: dahia pl. J Clin Endocrinol Metab. 2001 Jun;86(6):2890-4. doi: 10.1210/jcem.86.6.7547. J Clin Endocrinol Metab. 2001. PMID: 11397905
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER. Astuti D, et al. Among authors: dahia pl. Am J Hum Genet. 2001 Jul;69(1):49-54. doi: 10.1086/321282. Epub 2001 Jun 12. Am J Hum Genet. 2001. PMID: 11404820 Free PMC article.
Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations.
Duerr EM, Gimm O, Neuberg DS, Kum JB, Clifford SC, Toledo SP, Maher ER, Dahia PL, Eng C. Duerr EM, et al. Among authors: dahia pl. J Clin Endocrinol Metab. 1999 Sep;84(9):3207-11. doi: 10.1210/jcem.84.9.5961. J Clin Endocrinol Metab. 1999. PMID: 10487688
Pheochromocytomas: from genetic diversity to new paradigms.
Qin Y, Buddavarapu K, Dahia PL. Qin Y, et al. Among authors: dahia pl. Horm Metab Res. 2009 Sep;41(9):664-71. doi: 10.1055/s-0029-1215590. Epub 2009 Apr 23. Horm Metab Res. 2009. PMID: 19391076 Review.
A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma.
Arum SM, Dahia PL, Schneider K, Braverman LE. Arum SM, et al. Among authors: dahia pl. Endocrine. 2005 Nov;28(2):193-8. doi: 10.1385/ENDO:28:2:193. Endocrine. 2005. PMID: 16388093
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
Toledo RA, Wagner SM, Coutinho FL, Lourenço DM Jr, Azevedo JA, Longuini VC, Reis MT, Siqueira SA, Lucon AM, Tavares MR, Fragoso MC, Pereira AA, Dahia PL, Mulligan LM, Toledo SP. Toledo RA, et al. Among authors: dahia pl. J Clin Endocrinol Metab. 2010 Mar;95(3):1318-27. doi: 10.1210/jc.2009-1355. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080836
A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.
Ong RKS, Flores SK, Reddick RL, Dahia PLM, Shawa H. Ong RKS, et al. J Clin Endocrinol Metab. 2018 Aug 1;103(8):2802-2806. doi: 10.1210/jc.2017-01302. J Clin Endocrinol Metab. 2018. PMID: 29878124 Free PMC article.
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.
NGS in PPGL (NGSnPPGL) Study Group, Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL. NGS in PPGL (NGSnPPGL) Study Group, et al. Among authors: dahia pl. Nat Rev Endocrinol. 2017 Apr;13(4):233-247. doi: 10.1038/nrendo.2016.185. Epub 2016 Nov 18. Nat Rev Endocrinol. 2017. PMID: 27857127 Review.
Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.
Toledo RA, Dahia PL. Toledo RA, et al. Among authors: dahia pl. Curr Opin Endocrinol Diabetes Obes. 2015 Jun;22(3):169-79. doi: 10.1097/MED.0000000000000150. Curr Opin Endocrinol Diabetes Obes. 2015. PMID: 25871962 Free PMC article. Review.
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