Published in Best Pract Res Clin Endocrinol Metab on September 01, 2001
TCF7L2: the biggest story in diabetes genetics since HLA? Diabetologia (2007) 2.22
First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child (2004) 1.70
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes (2009) 1.25
Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes. Diabetes Care (2009) 1.18
Type 2 diabetes and obesity: genomics and the clinic. Hum Genet (2011) 1.04
Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population. BMC Med Genet (2008) 1.02
Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PLoS One (2009) 1.02
Animal models of GWAS-identified type 2 diabetes genes. J Diabetes Res (2013) 1.01
Insights into the genetic basis of type 2 diabetes. J Diabetes Investig (2013) 0.90
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts. Diabetes (2008) 0.87
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure. J Med Genet (2005) 0.81
HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol (2015) 0.79
Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. Pediatr Diabetes (2009) 0.79
MED25 is a mediator component of HNF4α-driven transcription leading to insulin secretion in pancreatic beta-cells. PLoS One (2012) 0.79
Role of HNF-1alpha in regulating the expression of genes involved in cellular growth and proliferation in pancreatic beta-cells. Diabetes Res Clin Pract (2009) 0.76
Expression profile of HMBOX1, a novel transcription factor, in human cancers using highly specific monoclonal antibodies. Exp Ther Med (2011) 0.76
The genetics and pathophysiology of diabetes mellitus type II. J Inherit Metab Dis (2004) 0.76
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). Clin Pediatr Endocrinol (2010) 0.75
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. Clin Endocrinol (Oxf) (2016) 0.75
Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3). J Clin Res Pediatr Endocrinol (2012) 0.75
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature (1996) 5.32
Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia (2010) 4.13
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet (2001) 3.26
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia (2008) 2.44
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet (2000) 2.28
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet (2005) 2.24
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia (2006) 2.24
Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study. Clin Pharmacol Ther (2010) 2.22
Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia (2006) 2.14
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia (2013) 2.13
The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia (2002) 1.99
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet (2001) 1.98
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes (1999) 1.97
The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia (2012) 1.89
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology (2007) 1.89
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int (2000) 1.87
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med (2008) 1.82
First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child (2004) 1.70
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia (2009) 1.70
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med (2011) 1.68
FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians. Diabetologia (2008) 1.65
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet (2000) 1.64
Hypoglycaemic counter-regulation at normal blood glucose concentrations in patients with well controlled type-2 diabetes. Lancet (2000) 1.61
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest (1999) 1.60
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia (2005) 1.60
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes (1996) 1.60
Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia (2000) 1.57
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia (2012) 1.55
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med (2009) 1.54
Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes. Diabetologia (2004) 1.54
SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia (2012) 1.54
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia (2007) 1.52
The clinical utility of C-peptide measurement in the care of patients with diabetes. Diabet Med (2013) 1.50
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia (2013) 1.48
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes (2001) 1.47
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol (2001) 1.36
Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med (2000) 1.34
Urine C-peptide creatinine ratio is an alternative to stimulated serum C-peptide measurement in late-onset, insulin-treated diabetes. Diabet Med (2011) 1.33
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia (2000) 1.31
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes (1997) 1.29
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med (2008) 1.29
Association of low birth weight with beta cell function in the adult first degree relatives of non-insulin dependent diabetic subjects. BMJ (1993) 1.27
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet (2001) 1.26
The effect of obesity on glycaemic response to metformin or sulphonylureas in Type 2 diabetes. Diabet Med (2006) 1.26
beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes (2001) 1.25
Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet (2005) 1.24
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Diabetologia (2008) 1.23
Incorrect and incomplete coding and classification of diabetes: a systematic review. Diabet Med (2010) 1.22
TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels. Diabetologia (2007) 1.21
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV). Diabet Med (2010) 1.20
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabet Med (2009) 1.20
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med (2006) 1.18
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci U S A (2000) 1.16
Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med (2001) 1.13
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet (2005) 1.13
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. Diabet Med (2009) 1.12
Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia (2005) 1.11
Clinical characteristics of subjects with a missense mutation in glucokinase. Diabet Med (1995) 1.09
Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia (2011) 1.09
A simple pragmatic system for detecting new cases of type 2 diabetes and impaired fasting glycaemia in primary care. Fam Pract (2004) 1.08
Novel GLIS3 mutations demonstrate an extended multisystem phenotype. Eur J Endocrinol (2010) 1.08
The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Diabetologia (2008) 1.08
Clinical improvement in cystic fibrosis with early insulin treatment. Arch Dis Child (2002) 1.07
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet (1992) 1.06
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. Ophthalmology (1999) 1.05
Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol (2001) 1.04
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia (2012) 1.04
C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet (1998) 1.03
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls. J Med Genet (2007) 1.03
Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a Go-DARTS study. Clin Pharmacol Ther (2009) 1.02
HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med (2013) 1.02
Searching for type 2 diabetes genes in the post-genome era. Trends Endocrinol Metab (2000) 1.02
Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med (2005) 1.01
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes (2001) 1.01
Conventional measures underestimate glycaemia in cystic fibrosis patients. Diabet Med (2004) 1.01
Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res (2000) 0.99
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metab (2007) 0.98
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes (1998) 0.98
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet (1999) 0.98
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics. Diabet Med (2002) 0.96
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Diabetologia (2004) 0.96
Molecular diagnostics in monogenic and multifactorial forms of type 2 diabetes. Expert Rev Mol Diagn (2001) 0.95
Prevalence of diabetes mellitus and impaired glucose tolerance in parents of women with gestational diabetes. Diabetologia (1995) 0.95
Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet (2006) 0.95
An association analysis of the HLA gene region in latent autoimmune diabetes in adults. Diabetologia (2006) 0.95
Pancreatic pathology in non-insulin dependent diabetes (NIDDM). Diabetes Res Clin Pract (1995) 0.95
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med (2010) 0.95
Validation of a single-sample urinary C-peptide creatinine ratio as a reproducible alternative to serum C-peptide in patients with Type 2 diabetes. Diabet Med (2012) 0.93
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. Diabetologia (2010) 0.93
Permanent neonatal diabetes in an Asian infant. J Pediatr (2005) 0.93
The role of genetic susceptibility in the association of low birth weight with type 2 diabetes. Br Med Bull (2001) 0.92
Development of a bloodspot assay for insulin. Clin Chim Acta (2001) 0.92
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat (2003) 0.92
Asian MODY: are we missing an important diagnosis? Diabet Med (2006) 0.91
The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies. Diabet Med (2007) 0.91
High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population. Diabetologia (1996) 0.91
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. J Clin Endocrinol Metab (2000) 0.90