Now showing items 1-3 of 3

  • Expanding the Clinical Spectrum Associated With GLIS3 Mutations 

    Dimitri, P; Habeb, AM; Garbuz, F; Millward, A; Wallis, S; Moussa, K; Akcay, T; Taha, D; Hogue, J; Slavotinek, A; Wales, JK; Shetty, A; Hawkes, D; Hattersley, AT; Ellard, S; De Franco, E (Endocrine Society, 2015-08-10)
    CONTEXT: GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a ...
  • Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. 

    Habeb, AM; Deeb, A; Johnson, M; Abdullah, M; Abdulrasoul, M; Al-Awneh, H; Al-Maghamsi, MS; Al-Murshedi, F; Al-Saif, R; Al-Sinani, S; Ramadan, D; Tfayli, H; Flanagan, SE; Ellard, S (Karger, 2015-04)
    BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients. AIMS: To ...
  • Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome 

    Habeb, AM; Flanagan, SE; Zulali, MA; Abdullah, MA; Pomahačová, R; Boyadzhiev, V; Colindres, LE; Godoy, GV; Vasanthi, T; Al Saif, R; Setoodeh, A; Haghighi, A; Haghighi, A; Shaalan, Y; International Neonatal Diabetes Consortium; Hattersley, AT; Ellard, S; De Franco, E (Springer Verlag, 2018-02-15)
    AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, ...