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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
(Wolters Kluwer, 2018-04)To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). -
Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.
(Springer, 2016-03-10)Genome-wide association (GWA) studies have identified hundreds of common genetic variants associated with obesity and type 2 diabetes. These studies have usually focused on additive association tests. Identifying deviations ... -
Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health.
(Oxford Journals, 2016-02)How does a genetic variant in the FSHB promoter, known to alter FSH levels, impact female reproductive health? -
Reactivity to low-flow as a potential determinant for brachial artery flow-mediated vasodilatation.
(American Physiological Society, 2016-06)Previous studies have reported a vasoconstrictor response in the radial artery during a cuff-induced low-flow condition, but a similar low-flow condition in the brachial artery results in nonuniform reactivity. This variable ... -
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
(Springer, 2016-03-31)The finding that patients with diabetes due to potassium channel mutations can transfer from insulin to sulfonylureas has revolutionised the management of patients with permanent neonatal diabetes. The extent to which the ... -
Practical Classification Guidelines for Diabetes in patients treated with insulin: a cross-sectional study of the accuracy of diabetes diagnosis.
(Royal College of General Practitioners, 2016-04-14)Differentiating between type 1 and type 2 diabetes is fundamental to ensuring appropriate management of patients, but can be challenging, especially when treating with insulin. The 2010 UK Practical Classification Guidelines ... -
Events in Early Life are Associated with Female Reproductive Ageing: A UK Biobank Study.
(Nature, 2016-04-20)The available oocyte pool is determined before birth, with the majority of oocytes lost before puberty. We hypothesised that events occurring before birth, in childhood or in adolescence ('early-life risk factors') could ... -
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
(Elsevier, 2016-05-24)Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 ... -
Improving communication between staff and disabled children in hospital wards: testing the feasibility of a training intervention developed through intervention mapping
(BMJ, 2017-09-11)Objective To develop and test the feasibility of a novel parent-inspired training intervention for hospital ward staff to improve communication with disabled children when inpatients. Design Training content and delivery ...