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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Iacovazzo D, et al. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1. Acta Neuropathol Commun. 2016. PMID: 27245663 Free PMC article.
Risk category system to identify pituitary adenoma patients with AIP mutations.
Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium. Caimari F, et al. J Med Genet. 2018 Apr;55(4):254-260. doi: 10.1136/jmedgenet-2017-104957. Epub 2018 Feb 10. J Med Genet. 2018. PMID: 29440248 Free PMC article.
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.
Ramírez-Rentería C, Hernández-Ramírez LC, Portocarrero-Ortiz L, Vargas G, Melgar V, Espinosa E, Espinosa-de-Los-Monteros AL, Sosa E, González B, Zúñiga S, Unterländer M, Burger J, Stals K, Bussell AM, Ellard S, Dang M, Iacovazzo D, Kapur S, Gabrovska P, Radian S, Roncaroli F, Korbonits M, Mercado M. Ramírez-Rentería C, et al. Endocrine. 2016 Aug;53(2):402-11. doi: 10.1007/s12020-016-0930-9. Epub 2016 Mar 31. Endocrine. 2016. PMID: 27033541
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.
Hernández-Ramírez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, Iacovazzo D, D'Acquisto F, Prodromou C, Korbonits M. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab. 2016 Aug;101(8):3144-54. doi: 10.1210/jc.2016-1307. Epub 2016 Jun 2. J Clin Endocrinol Metab. 2016. PMID: 27253664 Free PMC article.
38 results