Browsing 2016 RD&E publications by Subject "Infant"

Now showing items 1-2 of 2

    • GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. 

      Haliloglu, B.; Hysenaj, G.; Atay, Z.; Guran, T.; Abalı, S.; Turan, S.; Bereket, A.; Ellard, Sian (Wiley, 2016-09)
      Inactivating heterozygous mutations in the GCK gene are a common cause of MODY and result in mild fasting hyperglycaemia, which does not require treatment. We aimed to identify the frequency, clinical and molecular features ...

    • Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. 

      Iacovazzo, D.; Caswell, R.; Bunce, B.; Jose, S.; Yuan, B.; Hernández-Ramírez, L. C.; Kapur, S.; Caimari, F.; Evanson, J.; Ferraù, F.; Dang, M. N.; Gabrovska, P.; Larkin, S. J.; Ansorge, O.; Rodd, C.; Vance, M. L.; Ramírez-Renteria, C.; Mercado, M.; Goldstone, A. P.; Buchfelder, M.; Burren, C. P.; Gurlek, A.; Dutta, P.; Choong, C. S.; Cheetham, T.; Trivellin, G.; Stratakis, C. A.; Lopes, M-B; Grossman, A. B.; Trouillas, J.; Lupski, J. R.; Ellard, Sian; Sampson, J. R.; Roncaroli, F.; Korbonits, M. (BioMed Central, 2016-06-01)
      Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the ...