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American Journal of Human Genetics|October 18, 2022
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohortsUyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, et al.European Journal of Endocrinology|February 15, 2011
A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacementPeter N Taylor, Vijay Panicker, Adrian Sayers, et al.Medrxiv : the Preprint Server for Health Sciences|May 3, 2023
A Systematic Review of the use of Precision Diagnostics in Monogenic DiabetesRinki Murphy, Kevin Colclough, Toni I Pollin, et al.Communications Medicine|October 4, 2023
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinionRinki Murphy, Kevin Colclough, Toni I Pollin, et al.Diabetes|May 5, 2009
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humansDaniela Gasperíková, Nicolas D Tribble, Juraj Staník, et al.Nature Communications|October 14, 2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceKashyap A Patel, Jarno Kettunen, Markku Laakso, et al.American Journal of Human Genetics|September 10, 2020
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical InterpretationSara Althari, Laeya A Najmi, Amanda J Bennett, et al.Diabetes|December 29, 2007
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthoodEmma L Edghill, Sarah E Flanagan, Ann-Marie Patch, et al.The Journal of Clinical Endocrinology and Metabolism|August 1, 2025
Children with diabetes and at least one non-autoimmune feature should be considered for monogenic diabetes testingRebecca Myers, Melek Yildiz, Mehmet Nuri Ozbek, et al.Diabetes|January 29, 2005
Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase geneMichael N Weedon, Timothy M Frayling, Beverley Shields, et al.Pageof 11