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Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.
(Bioscientifica, 2019-02-01)
While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or ...
The current landscape of European registries for rare endocrine conditions
(BioScientifica, 2019-01)
Objective
To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres ...
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
(2019-03)
BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data ...
Assessment of Cardiavascular Changes following Trans-sphenoidal Surgery in Acromegalic Patients.
(Medknow Publications, 2019-09-10)
Cardiovascular disease represents the most prevalent comorbidity in acromegaly, accounting for up to 80% of complications and it has been reported to importantly contribute to death.[1] In this issue of Neurology India, ...
Genetics of Pituitary Tumours.
(Springer Nature Switzerland AG, 2019-10-07)
Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours ...
Circulating aryl hydrocarbon receptor-interacting protein (AIP) is independent of GH secretion.
(2019-04)
Background: Aryl hydrocarbon receptor-interacting protein (AIP) is evolutionarily conserved and expressed widely throughout the organism. Loss-of-function AIP mutations predispose to young-onset pituitary adenomas. AIP ...
Phosphodiesterases and cAMP pathway in pituitary diseases
(Frontiers Media SA, 2019-03-19)
© 2019 Bizzi, Bolger, Korbonits and Ribeiro-Oliveira. Human phosphodiesterases (PDEs) comprise a complex superfamily of enzymes derived from 24 genes separated into 11 PDE gene families (PDEs 1-11), expressed in different ...