Browsing Centre for Endocrinology by Title
Now showing items 537-556 of 560
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An unexpected cause of hypoglycaemia post-bariatric surgery
(2018-04-09) -
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
(2017-06)There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene. Therefore, a systematic assessment of the ... -
Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.
(2018)Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual ... -
An update on the genetic drivers of corticotroph tumorigenesis
(2024-01-01)The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in USP8 account for the most common genetic defect in corticotrophinomas, especially in ... -
Update on the Genetics of Pituitary Tumors
(2020-09) -
Ward monitoring 4.0: real-time metabolic insights from continuous glucose monitoring into perioperative organ dysfunction.
(2024-03-05)The now-routine clinical deployment of continuous glucose monitoring has demonstrated benefit in real-world settings. We make the case that continuous glucose monitoring can help re-examine, at scale, the role that (stress) ... -
Wounding induces dedifferentiation of epidermal Gata6+ cells and acquisition of stem cell properties
(Springer Nature, 2017-06)