Browsing by Subject "idiopathic short stature"

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    • Copy number variants in patients with short stature 
      Van Duyvenvoorde, Hermine A.; Lui, Julian C.; Kant, Sarina G.; Oostdijk, Wilma; Gijsbers, Antoinet C.J.; Hoffer, Mariëtte J.V.; Karperien, Marcel; Walenkamp, Marie J.E.; Noordam, Cees; Voorhoeve, Paul G.; Mericq, Verónica; Pereira, Alberto M.; Claahsen-Van De Grinten (Nature Publishing Group, 2014)
      Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about ...
    • Expression of SOCS1, SOCS2, and SOCS3 in growth hormone-stimulated skin fibroblasts from children with ... 
      Ocaranza, Paula; Morales, Fernanda; Román, Rossana; Iñíguez Vila, Germán; Cassorla Goluboff, Fernando (2012)
      Background/aim: Possible etiologies of idiopathic short stature (ISS) include a range of conditions, some of which may be caused by defects in the modulation of the growth hormone (GH)-signaling pathway. The Janus kinase/signal ...