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Page 1
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernández-Ramírez LC, Holland A, Samuels J, Aflorei ED, Barry S, Dénes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterländer M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M. Radian S, et al. Among authors: aflorei ed. Hum Mutat. 2017 Jan;38(1):78-85. doi: 10.1002/humu.23121. Epub 2016 Oct 4. Hum Mutat. 2017. PMID: 27650164 Free PMC article.
In vivo bioassay to test the pathogenicity of missense human AIP variants.
Aflorei ED, Klapholz B, Chen C, Radian S, Dragu AN, Moderau N, Prodromou C, Ribeiro PS, Stanewsky R, Korbonits M. Aflorei ED, et al. J Med Genet. 2018 Aug;55(8):522-529. doi: 10.1136/jmedgenet-2017-105191. Epub 2018 Apr 9. J Med Genet. 2018. PMID: 29632148 Free PMC article.
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. J Clin Endocrinol Metab. 2015. PMID: 26186299 Free PMC article.
Characterization of SNARE proteins in human pituitary adenomas: targeted secretion inhibitors as a new strategy for the treatment of acromegaly?
Garcia EA, Trivellin G, Aflorei ED, Powell M, Grieve J, Alusi G, Pobereskin L, Shariati B, Cudlip S, Roncaroli F, Mendoza N, Grossman AB, Harper EA, Korbonits M. Garcia EA, et al. Among authors: aflorei ed. J Clin Endocrinol Metab. 2013 Dec;98(12):E1918-26. doi: 10.1210/jc.2013-2602. Epub 2013 Oct 23. J Clin Endocrinol Metab. 2013. PMID: 24152687