Browsing Centre for Endocrinology by Subject "Genetic Predisposition to Disease"

Now showing items 1-4 of 4

    • The Genetic Basis of Delayed Puberty. 

      Howard, SR; Dunkel, L (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 ...

    • Genetic regulation in pubertal delay. 

      Howard, SR (2019-10)
      Delayed puberty represents the clinical presentation of a final common pathway for many different pathological mechanisms. In the majority of patients presenting with significantly delayed puberty, there is a clear family ...

    • Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life. 

      Bettini, LR; Graziola, F; Fazio, G; Grazioli, P; Scagliotti, V; Pasquini, M; Cazzaniga, G; Biondi, A; Larizza, L; Selicorni, A (2018-02-01)
      Cohesin complex components exert fundamental roles in animal cells, both canonical in cell cycle and non-canonical in gene expression regulation. Germline mutations in genes coding for cohesins result in developmental ...

    • Succinate Dehydrogenase B (SDHB)-Associated Bladder Paragangliomas. 

      Srirangalingam, U; Banerjee, A; Patki, P; Peters, J; George, E; Chew, SL; Kumar, VKA; Korbonits, M; Waterhouse, M; Druce, MR (2017-02)