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Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.
Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K. Taïeb D, et al. Among authors: maher er. Nat Rev Endocrinol. 2024 Mar;20(3):168-184. doi: 10.1038/s41574-023-00926-0. Epub 2023 Dec 14. Nat Rev Endocrinol. 2024. PMID: 38097671 Review.
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: maher er. 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 Free article. Review.
Pheochromocytoma.
Eisenhofer G, Pacak K, Maher ER, Young WF, de Krijger RR. Eisenhofer G, et al. Among authors: maher er. Clin Chem. 2013 Mar;59(3):466-72. doi: 10.1373/clinchem.2012.182246. Epub 2012 Dec 3. Clin Chem. 2013. PMID: 23209036 Free PMC article. No abstract available.
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N. Ben Aim L, et al. Among authors: maher er. J Med Genet. 2022 Aug;59(8):785-792. doi: 10.1136/jmedgenet-2020-107652. Epub 2021 Aug 27. J Med Genet. 2022. PMID: 34452955 Free PMC article.
Phaeochromocytoma, new genes and screening strategies.
Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER, Plouin PF; European Network for the Study of Adrenal Tumours (ENS@T) Pheochromocytoma Working Group. Gimenez-Roqueplo AP, et al. Among authors: maher er. Clin Endocrinol (Oxf). 2006 Dec;65(6):699-705. doi: 10.1111/j.1365-2265.2006.02714.x. Clin Endocrinol (Oxf). 2006. PMID: 17121518
562 results