Now showing items 1-2 of 2

    • 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, L. C.; Kapur, S.; Caimari, F.; Evanson, J.; Ferraù, F.; Dang, M. N.; Gabrovska, P.; Larkin, S. J.; Ansorge, O.; Rodd, C.; Vance, M. L.; Ramírez-Renteria, C.; Mercado, M.; Goldstone, A. P.; Buchfelder, M.; Burren, C. P.; Gurlek, A.; Dutta, P.; Choong, C. S.; Cheetham, T.; Trivellin, G.; Stratakis, C. A.; Lopes, M-B; Grossman, A. B.; Trouillas, J.; Lupski, J. R.; Ellard, Sian; Sampson, J. R.; Roncaroli, F.; Korbonits, M. (BioMed Central, 2016-06-01)
      Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the ...
    • Risk category system to identify pituitary adenoma patients with AIP mutations. 

      Caimari, F.; Hernández-Ramírez, L. C.; Dang, M. N.; Gabrovska, P.; Iacovazzo, D.; Stals, Karen; Ellard, Sian; Korbonits, M. (BMJ, 2018-02-10)
      Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl ...