Browsing Centre for Endocrinology by Subject "Genetics"
Now showing items 1-11 of 11
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Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism
(Wolters Kluwer, 2022-08-05) -
Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism
(Wolters Kluwer, 2023-08-04) -
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
(American Society for Clinical Investigation, 2024-03-22)Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. ... -
Genetic Aspects of Pituitary Adenomas
(2017-06) -
The Genetic Basis of Delayed Puberty.
(2018)The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone ... -
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 ... -
RF14 | PSAT120 X-Linked Central Precocious Puberty Associated with MECP2 Defects
(The Endocrine Society, 2022-11-01) -
THU079 Danio Rerio (Zebrafish): A New Model Of AIP Loss Of Function
(The Endocrine Society, 2023-10-05)