Browsing by Author "e33fe96c-4bb6-4398-91ef-b6fede1e6ab7"

Now showing items 1-2 of 2

    • Discordance in the dependence on Kisspeptin signaling in mini puberty vs adolescent puberty: human genetic evidence 
      Shahab, Muhammad; Lippincott, Margaret; Chan, Yee-Ming; Davies, Addie; Merino Osorio, Paulina; Plummer, Lacey; Mericq, Verónica; Seminara, Stephanie (Oxford University Press, 2018)
      Context: Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients ...
    • Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency 
      Balasubramanian, Ravikumar; Choi, Jin Ho; Francescatto, Ludmila; Willer, Jason; Horton, Edward R.; Asimacopoulos, Eleni P.; Stankovic, Konstantina M.; Plummer, Lacey; Buck, Cassandra L.; Quinton, Richard; Nebesio, Todd D.; Mericq, Verónica; Merino, Paulina M.; Meyer, (National Academy of Sciences, 2014)
      © 2014, National Academy of Sciences. All rights reserved. Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated ...