Browsing by Author "Colclough, K"

Now showing items 1-20 of 23

    Issue DateTitleAuthor(s)
    8 November 2019Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: Lessons from a 5-year pediatric Swedish national cohort study  Carlsson, A; Shepherd, M; Ellard, S; et al.
    7 October 2021Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study  Locke, JM; Dusatkova, P; Colclough, K; 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.
    2 August 2016The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes.  Laver, TW; Colclough, K; Shepherd, M; 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.
    8 May 2024Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis  Shields, B; Carlsson, A; Patel, K; et al.
    2 February 2022Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY  Laver, TW; Wakeling, MN; Knox, O; et al.
    12 October 2017Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance  Patel, KA; Kettunen, J; Laakso, M; 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.
    26 January 2021Loss of MANF causes childhood onset syndromic diabetes due to increased endoplasmic reticulum stress  Montaser, H; Patel, KA; Balboa, D; et al.
    9 January 2020Misannotation of multiple-nucleotide variants risks misdiagnosis  Wakeling, MN; Laver, TW; Colclough, K; et al.
    21 November 2023Penetrance and expressivity of mitochondrial variants in a large clinically unselected population  Cannon, SJ; Hall, T; Hawkes, G; et al.
    11 July 2014Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.  Raimondo, A; Chakera, AJ; Thomsen, SK; et al.
    17 July 2018PLIN1 haploinsufficiency is not associated with lipodystrophy  Laver, TW; Patel, KA; Colclough, K; et al.
    21 July 2017Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients  Shields, B; Shepherd, M; Hudson, M; et al.
    15 January 2014Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia  Steele, AM; Shields, BM; Wensley, KJ; et al.
    19 July 2016South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people  Misra, S; Shields, B; Colclough, K; et al.
    16 November 2021Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY  Colclough, K; Ellard, S; Hattersley, A; et al.
    23 October 2021Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics  Patel, KA; Ozbek, MN; Yildiz, M; et al.
    6 June 2016Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes.  Shepherd, M; Shields, B; Hammersley, S; et al.