Now showing items 1-20 of 49

    Issue DateTitleAuthor(s)
    1 August 2014Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.  Flanagan, SE; Haapaniemi, E; Russell, Mark A.; et al.
    7 January 2014Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man  Flanagan, SE; De Franco, E; Lango Allen, H; et al.
    17 August 2006Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size  Shields, BM; Knight, BA; Powell, RJ; et al.
    22 May 2015Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing  Clissold, RL; Shields, B; Ellard, Sian; et al.
    1 June 2015Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion.  Yaghootkar, H; Stancáková, A; Freathy, RM; et al.
    12 August 2015Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus  Sansbury, Francis H.; Kirel, Birgul; Caswell, Richard; et al.
    2 November 2015Can clinical features be used to differentiate type 1 from type 2 diabetes? A systematic review of the literature.  Shields, BM; Peters, JL; Cooper, Chris; et al.
    8 June 2015Characteristics of maturity onset diabetes of the young in a large diabetes center  Chambers, Christina; Fouts, A; Dong, F; et al.
    1 January 2014Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia  Stride, A; Shields, B; Gill-Carey, O; et al.
    1 November 2013Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes  Shankar, RK; Ellard, Sian; Standiford, D; et al.
    28 July 2015The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study  De Franco, E; Flanagan, SE; Houghton, JA; et al.
    1 February 2002Evidence for linkage of stature to chromosome 3p26 in a large U.K. family data set ascertained for type 2 diabetes.  Wiltshire, Steven; Frayling, Timothy M.; Hattersley, Andrew T.; et al.
    5 June 2006The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.  Freathy, RM; Weedon, Michael N.; Melzer, D; et al.
    12 February 2015Genetic studies of body mass index yield new insights for obesity biology  Locke, Adam E.; Kahali, Bratati; Berndt, Sonja I.; et al.
    15 December 2012Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight  Tyrrell, Jessica S.; Huikari, V; Christie, JT; et al.
    1 September 2001A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Locus on Chromosome 1q  Wiltshire, Steven; Hattersley, Andrew T.; Hitman, Graham A.; et al.
    1 February 2015HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.  Clissold, RL; Hamilton, Alexander; Hattersley, Andrew T.; et al.
    27 November 2013The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype  Hamilton, Alexander; Bingham, Coralie; McDonald, TJ; et al.
    1 February 2014Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease  Medici, M; Porcu, E; Pistis, G; et al.
    1 September 2013Improved genetic testing for monogenic diabetes using targeted next-generation sequencing  Ellard, Sian; Lango Allen, H; De Franco, E; et al.