Browsing Clinical Genetics (Peninsula Genetics) by Issue Date
Now showing items 1-20 of 146
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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, ... -
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 ... -
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers.
(Highwire, 2002-12)In animals, experimentally induced maternal hyperglycemia during pregnancy results in hyperglycemic offspring. Similarly, Pima Indian offspring with mothers who are diabetic at the time of pregnancy have increased risk of ... -
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers.
(Highwire, 2005-07)Patients with diabetes due to hepatocyte nuclear factor (HNF)-1alpha mutations have beta-cell deficiency, insulin sensitivity, altered proinsulin levels, and a low renal threshold for glucose. It is uncertain how many of ... -
Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia.
(Elsevier, 2006-10)Policy makers have suggested that information about genetic risk factors, which are associated with low risk and for which preventive strategies exist, should not be considered "exceptional" and should not warrant special ... -
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia.
(BioMed Central, 2007)UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common illnesses. There are no studies on patients' experience and ... -
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.
(Wiley, 2009-01)To assess determinants of fetal growth in the offspring of pregnant women with hyperglycaemia due to a heterozygous glucokinase (GCK) gene mutation. -
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.
(Wiley, 2009-04)Hepatocyte nuclear factor-1 alpha (HNF1A) gene mutations are the commonest cause of monogenic diabetes, but patients are often misdiagnosed as having Type 1 diabetes and started on insulin treatment. Patients with HNF1A ... -
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene.
(Wiley, 2010-02)To investigate all-cause and cardiovascular mortality in subjects with diabetes caused by a mutation in the hepatocyte nuclear factor 1alpha gene (HNF1A). -
Stopping insulin injections following genetic testing in diabetes: impact on identity.
(Wiley, 2010-07)Identification of genes causing monogenic diabetes has led to treatment change, from insulin to sulphonylureas for many previously considered insulin dependent. Changing treatment has led to improved glycaemic control and ... -
Exfoliated colonocyte DNA levels and clinical features in the diagnosis of colorectal cancer: a cohort study in patients referred for investigation.
(Wiley, 2012-03)Selection of patients for investigation of suspected colorectal cancer is difficult. One possible improvement may be to measure DNA isolated from exfoliated cells collected from the rectum. -
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
(Highwire, 2013-03)We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring ... -
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
(Wiley, 2013-05)Maturity-onset diabetes of the young (MODY) is a monogenic disorder characterized by autosomal dominant inheritance of young-onset (typically <25 years), noninsulin-dependent diabetes due to defective insulin secretion. ... -
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
(Wiley, 2013-08)Medulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility ... -
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
(Springer, 2013-09)Current genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple ...