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Now showing items 1-20 of 2409
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The relationship between cleavage, DNA replication, and gene expression in the mouse 2-cell embryo.
(Development, 1984-02)The 2-cell stage of mouse embryogenesis is characterized by two phases of alpha-amanitin-sensitive polypeptide synthetic activity, which appear to mark the first major expression of the embryonic genome, as assessed by ... -
Prediction of hypoxaemia at high altitude in children with cystic fibrosis.
(BMJ, 1994-01-01)To assess the usefulness of a hypoxic challenge in a laboratory at sea level in predicting acute desaturation at altitude in children with lung disease. -
High-strength pancreatic enzyme supplements and large-bowel stricture in cystic fibrosis.
(ScienceDirect, 1994-01-08) -
Colonic stricture in a boy with cystic fibrosis.
(BMJ, 1995-05)Many problems may arise within the gastrointestinal tract of patients with cystic fibrosis. We report a new cause of subacute intestinal obstruction due to a fibrotic stricture of the ascending colon in a child with cystic ... -
Subclinical colonic thickening.
(Sage, 1996) -
Sudden death associated with group A streptococcal infection in an 8-year-old girl with undiagnosed hypertrophic cardiomyopathy.
(BMJ, 1998-11)An 8-year-old girl died suddenly without prior symptoms. Post-mortem examination identified both systemic group A streptococcal infection and hypertrophic cardiomyopathy. She had no history of cardiac symptoms and was not ... -
Health-related quality-of-life measures for children.
(Wiley, 1999)Our purpose is to report the development and psychometric properties of a generic computer-delivered measure of health-related quality of life (HRQL) suitable for children aged 6 to 11 years, the Exeter HRQL scale (EHRQL). ... -
Behavioural changes in the rat following infection with varicella-zoster virus
(Microbiology Society, 1999-09-01)Following the establishment of a chronic varicella-zoster virus infection in the rat, behavioural allodynia and hyperalgesia were observed in the injected, but not the contralateral hind limb up to 33 days post-infection. ... -
Living with chronic illness: a transitional model of coping
(MAG Online Library, 2000-01) -
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
(Springer, 2000-02)Patients with glucokinase mutations are characterised by mild, persistent fasting hyperglycaemia, a small increment in glucose in response to an oral load and a dominant family history. These patients frequently present ... -
Predictive genetic testing in diabetes: a case study of multiple perspectives.
(Sage, 2000-03)Genetic testing is now possible in maturity onset diabetes of the young (MODY), an unusual genetic subtype of diabetes. To date, there has been no research into the implications of genetic testing for MODY families. The ... -
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
(Highwire, 2001-02)beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, ... -
Treatment demands and differential treatment of patients with cystic fibrosis and their siblings: patient, parent and sibling accounts.
(Wiley, 2001-07)Cystic fibrosis (CF) is a progressive disease with no known cure. Advances in diagnosis and treatment have resulted in patients living longer and thus families live with the illness for longer. Treatments are becoming ... -
Managing Spasticity in People With Multiple Sclerosis: A Goal-Oriented Approach to Intrathecal Baclofen Therapy
(Consortium of Multiple Sclerosis Centers, 2001-12) -
The role of the nurse in the management of spasticity: care pathway
(Multiple Sclerosis Trust, 2002) -
Assessing communication skills of GP registrars: a comparison of patient and GP examiner ratings.
(Wiley, 2002-04)General practice. -
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
(Highwire, 2002-07)Monogenic human disorders have been used as paradigms for complex genetic disease and as tools for establishing important insights into mechanisms of gene regulation and transcriptional control. Maturity-onset diabetes of ... -
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.
(Wiley, 2002-09)To describe the characteristics of hepatocyte nuclear factor (HNF) 1 alpha mutation carriers diagnosed with diabetes after 25 years and compare them with young-onset Type 2 diabetic patients (YT2D) diagnosed at the same age. -
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
(Springer, 2002-10)Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent ... -
The differential blood pressure sign in general practice: prevalence and prognostic value.
(Oxford Journals, 2002-10)Patients sometimes have differences of > or =20/10 mmHg in their blood pressure depending on which arm is measured. The prevalence and prognostic value of this finding in general practice are unknown. If these differences ...