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

Lipoprotein composition in HNF1A-MODY: Differentiating between HNF1A-MODY and Type 2 diabetes

(2012) Tim J. McDonald et al.   CLINICA CHIMICA ACTA

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

(2012) B. M. Shields et al.   DIABETOLOGIA

Inferring causality and functional significance of human coding DNA variants

(2012) S. R. Sunyaev   HUMAN MOLECULAR GENETICS

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: Phenotypic characteristics and therapeutic implications

(2011) M.P. Kyithar et al.   DIABETES & METABOLISM

Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1- /Hepatocyte Nuclear Factor 4-  Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes

(2011) R. E. J. Besser et al.   DIABETES CARE

Urine C-Peptide Creatinine Ratio Is a Noninvasive Alternative to the Mixed-Meal Tolerance Test in Children and Adults With Type 1 Diabetes

(2011) R. E. J. Besser et al.   DIABETES CARE

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes: Figure 1

(2011) Tim J. McDonald et al.   DIABETES CARE

MODY

(2011) Stefan S. Fajans et al.   DIABETES CARE

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

(2011) T. J. McDonald et al.   DIABETIC MEDICINE

Heterozygous ABCC8 mutations are a cause of MODY

(2011) P. Bowman et al.   DIABETOLOGIA

Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK

(2011) J. Kropff et al.   DIABETOLOGIA

Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of theHNF1AGene

(2011) Christine Bellanné-Chantelot et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

C-peptide in the classification of diabetes in children and adolescents

(2011) J Ludvigsson et al.   PEDIATRIC DIABETES

Hepatic Hepatocyte Nuclear Factor 4α Is Essential for Maintaining Triglyceride and Cholesterol Homeostasis

(2010) Liya Yin et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Spectrum of HNF1A Somatic Mutations in Hepatocellular Adenoma Differs From That in Patients With MODY3 and Suggests Genotoxic Damage

(2010) E. Jeannot et al.   DIABETES

Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations

(2010) K. R. Owen et al.   DIABETES CARE

Three novel mutations in MODY and its phenotype in three different Czech families

(2010) Z. Bazalová et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro

(2010) A. Wirsing et al.   DIABETIC MEDICINE

Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies

(2010) C. Carette et al.   DIABETIC MEDICINE

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

(2010) B. Jafar-Mohammadi et al.   DIABETOLOGIA

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

(2010) B. M. Shields et al.   DIABETOLOGIA

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

(2010) S E Flanagan et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

(2010) Benjamin F Voight et al.   NATURE GENETICS

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

HNF1α mutations are present in half of clinically defined MODY patients in South-Brazilian individuals

(2009) Jorge de Faria Maraschin et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Control of ACAT2 Liver Expression by HNF4α

(2009) C. Pramfalk et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of theHNF4Agene

(2009) Jennifer J. CONN et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes

(2009) H. Lango Allen et al.   DIABETES

The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes

(2009) Katharine R. Owen et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

A genetic diagnosis ofHNF1Adiabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients

(2009) M. Shepherd et al.   DIABETIC MEDICINE

Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene

(2009) A. M. Steele et al.   DIABETIC MEDICINE

Novel P2 promoter-derived HNF4α isoforms with different N-terminus generated by alternate exon insertion

(2009) Jianmin Huang et al.   EXPERIMENTAL CELL RESEARCH

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes

(2009) Janniche Torsvik et al.   HUMAN GENETICS

Influence of hepatocyte nuclear factor 4α (HNF4α) gene variants on the risk of type 2 diabetes: A meta-analysis in 49,577 individuals

(2009) Silvia Sookoian et al.   MOLECULAR GENETICS AND METABOLISM

Identification of an Endogenous Ligand Bound to a Native Orphan Nuclear Receptor

(2009) Xiaohui Yuan et al.   PLoS One

Species-Specific Differences in the Expression of the HNF1A, HNF1B and HNF4A Genes

(2009) Lorna W. Harries et al.   PLoS One

Mutations at the BLK locus linked to maturity onset diabetes of the young and  -cell dysfunction

(2009) M. Borowiec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1α are Associated with C-Reactive Protein

(2008) Alexander P. Reiner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population-Specific Risk of Type 2 Diabetes Conferred by HNF4A P2 Promoter Variants: A Lesson for Replication Studies

(2008) I. Barroso et al.   DIABETES

The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4A Isoforms From the P1 Promoter During Fetal Development

(2008) L. W. Harries et al.   DIABETES

Diabetes Susceptibility in the Canadian Oji-Cree Population Is Moderated by Abnormal mRNA Processing of HNF1A G319S Transcripts

(2008) L. W. Harries et al.   DIABETES

Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations

(2008) R. R. Kapoor et al.   DIABETES

Common Variants in Maturity-Onset Diabetes of the Young Genes and Future Risk of Type 2 Diabetes

(2008) J. Holmkvist et al.   DIABETES

Molecular background and clinical characteristics of HNF1A MODY in a Polish population

(2008) J. Skupien et al.   DIABETES & METABOLISM

Clinical Application of 1,5-Anhydroglucitol Measurements in Patients with Hepatocyte Nuclear Factor-1  Maturity-Onset Diabetes of the Young

(2008) J. Skupien et al.   DIABETES CARE

Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY1 (HNF4A-MODY) and MODY3 (HNF1A-MODY)?

(2008) E. Karlsson et al.   DIABETIC MEDICINE

Prevalence ofHNF1A(MODY3) mutations in a Norwegian population (the HUNT2 Study)

(2008) S. . Eide et al.   DIABETIC MEDICINE

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

(2008) S. Ellard et al.   DIABETOLOGIA

The A98V Single Nucleotide Polymorphism (SNP) in Hepatic Nuclear Factor 1 α (HNF-1α) is Associated with Insulin Sensitivity and β-Cell Function

(2008) A. Bergmann et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

(2008) Eleftheria Zeggini et al.   NATURE GENETICS

Triple diabetes: coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweight adolescent

(2008) Sasigarn A Bowden et al.   PEDIATRIC DIABETES