Browsing Centre for Clinical Pharmacology by Subject "mutation"

Now showing items 1-3 of 3

    • EAP1 regulation of GnRH promoter activity is important for human pubertal timing. 

      Mancini, A; Howard, SR; Cabrera, CP; Barnes, MR; David, A; Wehkalampi, K; Heger, S; Lomniczi, A; Guasti, L; Ojeda, SR (Oxford University Press, 2019-01-04)
      The initiation of puberty is orchestrated by an augmentation of gonadotropin-releasing hormone (GnRH) secretion from a few thousand hypothalamic neurons. Recent findings have indicated that the neuroendocrine control of ...

    • Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 

      Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; Manole, A; Hamed, SA; Haridy, NA (2016-07)
      The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ...

    • Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths. 

      Munroe, PB; Addison, S; Abrams, DJ; Sebire, NJ; Cartwright, J; Donaldson, I; Cohen, MM; Mein, C; Tinker, A; Harmer, SC (2018-01)
      BACKGROUND: Although stillbirth is a significant health problem worldwide, the definitive cause of death remains elusive in many cases, despite detailed autopsy. In this study of partly explained and unexplained stillbirths, ...