6 June 2016 | Systematic 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. |
1 September 2016 | Prematurity should not prevent genetic testing for neonatal diabetes | Besser, RE; Flanagan, SE; Mackay, DG; et al. |
24 May 2016 | Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. | Clissold, RL; Shaw-Smith, C; Turnpenny, P; et al. |
8 April 2016 | Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. | Fendler, W; Madzio, J; Kozinski, K; et al. |
2 August 2016 | The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes. | Laver, TW; Colclough, K; Shepherd, M; et al. |
21 July 2017 | Population-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. |
1 August 2013 | An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy | Weedon, MN; Ellard, S; Prindle, MJ; et al. |
11 July 2014 | Phenotypic 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. |
1 June 2015 | Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. | Demirbilek, H; Arya, VB; Ozbek, MN; et al. |
14 August 2014 | Neurogenin 3 is important but not essential for pancreatic islet development in humans. | Rubio-Cabezas, O; Codner, E; Flanagan, SE; et al. |