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Lista de obras de Andrew Tym Hattersley

'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing

artículo científico publicado en 2004

35th Annual Meeting of the European Association for the Study of Diabetes

artículo científico

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity

article

A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells

artículo científico publicado en 2006

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function

scientific article published on 08 January 2020

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

artículo científico publicado en 2015

A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

artículo científico publicado en 2015

A Type 1 Diabetes Genetic Risk Score Can Identify Patients With GAD65 Autoantibody-Positive Type 2 Diabetes Who Rapidly Progress to Insulin Therapy

scientific article published on 23 October 2018

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin

A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy

artículo científico publicado en 2009

A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses

artículo científico publicado en 2006

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

artículo científico publicado en 2007

A common variant of HMGA2 is associated with adult and childhood height in the general population

artículo científico publicado en 2007

A common variant of the p16(INK4a) genetic region is associated with physical function in older people

artículo científico publicado en 2007

A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine

artículo científico publicado en 2008

A diagnostic approach for defining idiopathic remitting diabetes: a retrospective cohort study

artículo científico publicado en 2014

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

artículo científico publicado en 2005

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

artículo científico publicado en 2006

A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes

artículo científico publicado en 2003

A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement

artículo científico publicado en 2011

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

artículo científico publicado en 2013

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

artículo científico publicado en 2008

A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report

artículo científico publicado en 2013

A powerful approach to sub-phenotype analysis in population-based genetic association studies

artículo científico publicado en 2010

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations

artículo científico publicado en 2002

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population

artículo científico publicado en 2006

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

artículo científico publicado en 2017

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

artículo científico publicado en 2018

AB131. Genotype, phenotype of transient neonatal diabetes mellitus.

artículo científico publicado en 2015

ACE Gene Polymorphism as a Prognostic Indicator in Patients With Type 2 Diabetes and Established Renal Disease ⬇️

artículo científico publicado el 1 de diciembre de 2001

Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study

scientific article published on 08 November 2019

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

artículo científico publicado en 2014

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

artículo científico publicado en 2005

Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes

artículo científico publicado en 2006

Adherence to Oral Glucose-Lowering Therapies and Associations With 1-Year HbA1c: A Retrospective Cohort Analysis in a Large Primary Care Database.

artículo científico publicado en 2015

Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data

artículo científico publicado en 2008

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

artículo científico publicado en 2009

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene

artículo científico

Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes

scholarly article by Clementine S Fraser et al published September 2012 in European Journal of Endocrinology

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

artículo científico publicado en 2017

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

artículo científico publicado en 2005

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

artículo científico publicado en 2013

Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes

artículo científico publicado en 2016

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

artículo científico publicado en 2014

Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment

artículo científico publicado en 2012

Apolipoprotein E genotype, islet amyloid deposition and severity of Type 2 diabetes

artículo científico publicado en 2003

Are we missing hypoglycaemia? Elderly patients with insulin-treated diabetes present to primary care frequently with non-specific symptoms associated with hypoglycaemia.

artículo científico publicado en 2017

Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size

artículo científico publicado en 2006

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

artículo científico publicado en 2019

Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk

artículo científico publicado en 2008

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

Assessment of endogenous insulin secretion in insulin treated diabetes predicts postprandial glucose and treatment response to prandial insulin

artículo científico publicado en 2012

Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.

artículo científico publicado en 2015

Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach

artículo científico publicado en 2006

Association Analysis of 6,736 U.K. Subjects Provides Replication and ConfirmsTCF7L2as a Type 2 Diabetes Susceptibility Gene With a Substantial Effect on Individual Risk

article

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

artículo científico publicado en 2010

Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion

artículo científico publicado en 2015

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility

artículo científico publicado en 2003

Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations

artículo científico publicado en 2007

Association of maternal circulating 25(OH)D and calcium with birth weight: A mendelian randomisation analysis.

artículo científico publicado en 2019

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

artículo científico publicado en 2007

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

artículo científico publicado en 2003

Bayesian refinement of association signals for 14 loci in 3 common diseases

artículo científico publicado en 2012

Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes

artículo científico publicado en 2016

Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers

artículo científico publicado en 2005

Beta-cell secretory defect caused by mutations in glucokinase gene

artículo científico publicado el 7 de noviembre de 1992

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

artículo científico publicado en 2015

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

artículo científico publicado en 2015

C-Peptide Decline in Type 1 Diabetes Has Two Phases: An Initial Exponential Fall and a Subsequent Stable Phase.

artículo científico publicado en 2018

C-reactive protein and its role in metabolic syndrome: mendelian randomisation study

artículo científico publicado en 2005

Can clinical features be used to differentiate type 1 from type 2 diabetes? A systematic review of the literature

artículo científico publicado en 2015

Chapter 1 Transcription factor genes in type 2 diabetes

article

Characteristics of maturity onset diabetes of the young in a large diabetes center

artículo científico publicado en 2015

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

artículo científico publicado en 2016

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations

artículo científico publicado en 2015

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

artículo científico publicado en 2008

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

artículo científico publicado en 2008

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

artículo científico publicado en 2013

Cognitive, Neurological, and Behavioral Features in Adults With Neonatal Diabetes

artículo científico publicado en 2018

Cohort profile for the MASTERMIND study: using the Clinical Practice Research Datalink (CPRD) to investigate stratification of response to treatment in patients with type 2 diabetes

artículo científico publicado en 2017

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes

artículo científico publicado en 2008

Combining information from common type 2 diabetes risk polymorphisms improves disease prediction

artículo científico publicado en 2006

Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436-1443.

artículo científico publicado en 2018

Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59.

artículo científico publicado en 2013

Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies

artículo científico publicado en 2020

Common variants at 12q15 and 12q24 are associated with infant head circumference

artículo científico publicado en 2012

Common variants in WFS1 confer risk of type 2 diabetes

artículo científico publicado en 2007

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

artículo científico publicado en 2010

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function

artículo científico publicado en 2007

Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients

artículo científico publicado en 2009

Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI

artículo científico publicado en 2008

Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects

artículo científico publicado en 2007

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

artículo científico publicado en 2008

Conditional expression of hepatocyte nuclear factor-1beta, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic beta-cells

artículo científico publicado en 2006

Continue with long term sulfonylureas in patients with mutations in the KCNJ11 gene when there is evidence of response even if insulin treatment is still required

artículo científico publicado en 2013

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations

artículo científico publicado en 2004

Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations

artículo científico publicado en 2006

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

artículo científico publicado en 2009

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

artículo científico publicado en 2019

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

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

scholarly article published in Nature Genetics

Costs and Treatment Pathways for Type 2 Diabetes in the UK: A Mastermind Cohort Study

artículo científico publicado en 2017

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia

artículo científico publicado en 2013

Crossover studies can help the individualisation of care in type 2 diabetes: the MASTERMIND approach

scholarly article published May 2016

Cystatin C is not a good candidate biomarker for HNF1A-MODY.

scientific article published on 19 February 2012

Defining drug response for stratified medicine

artículo científico publicado en 2016

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Definition, epidemiology and classification of diabetes in children and adolescents

artículo científico publicado en 2009

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk

artículo científico publicado en 2009

Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts

artículo científico publicado en 2008

Dietary energy density affects fat mass in early adolescence and is not modified by FTO variants

artículo científico publicado en 2009

Different genes, different diabetes: lessons from maturity-onset diabetes of the young

artículo científico publicado en 2002

Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors

artículo científico publicado en 2016

Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes

artículo científico publicado en 2013

Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium

Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: rationale and design of the epidemiological studies within the IMI DIRECT Consortium

artículo científico publicado en 2014

Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development

artículo científico publicado en 2003

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

artículo científico publicado en 2017

EDTA improves stability of whole blood C-peptide and insulin to over 24 hours at room temperature

artículo científico publicado en 2012

Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene

article

Effect of the Holiday Season in Patients With Diabetes: Glycemia and Lipids Increase Postholiday, but the Effect Is Small and Transient

scientific article published on 01 January 2014

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

artículo científico publicado en 2007

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

scholarly article by Pamela Bowman et al published August 2018 in The Lancet: Diabetes & Endocrinology

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.

artículo científico publicado en 2018

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

scholarly article published in Nature Genetics

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Ethnic subgroup differences in hypertension in Pakistan

artículo científico publicado en 2003

Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes

artículo científico publicado en 2003

Evaluating associations between the benefits and risks of drug therapy in type 2 diabetes: a joint modeling approach

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes

article

Evidence From a Large U.K. Family Collection That Genes Influencing Age of Onset of Type 2 Diabetes Map to Chromosome 12p and to the MODY3/NIDDM2 Locus on 12q24

article

Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations

artículo científico publicado en 2002

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

artículo científico publicado en 2001

Evidence of genetic regulation of fetal longitudinal growth

artículo científico publicado en 2005

Excess mortality and cardiovascular disease in young adults with type 1 diabetes in relation to age at onset: a nationwide, register-based cohort study

artículo científico publicado en 2018

Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic

artículo científico publicado en 2018

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

artículo científico publicado en 2012

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

artículo científico publicado en 2015

Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable

artículo científico publicado en 2008

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

article

FTO gene variation and measures of body mass in an African population

artículo científico publicado en 2009

Fetal Genotype and Maternal Glucose have Independent and Additive Effects on Birth Weight.

artículo científico publicado en 2018

Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes.

artículo científico publicado en 2014

Fetal thyroid hormone level at birth is associated with fetal growth

artículo científico publicado en 2011

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

artículo científico publicado en 2018

Five-year follow-up for women with subclinical hypothyroidism in pregnancy

artículo científico publicado en 2013

Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank

artículo científico publicado en 2017

Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1

scientific article published on 01 June 2002

Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity

scientific article published on 27 November 2018

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.

artículo científico publicado en 2014

GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation

article

GATA6 haploinsufficiency causes pancreatic agenesis in humans

artículo científico publicado en 2011

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

artículo científico publicado en 2012

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

artículo científico publicado en 2019

Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking

artículo científico publicado en 2013

Genetic Disorders of the Pancreatic Beta Cell and Diabetes (Permanent Neonatal Diabetes and Maturity-Onset Diabetes of the Young)

article

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

artículo científico publicado en 2016

Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease

artículo científico publicado en 2016

Genetic Testing in Diabetes Mellitus

Genetic Variation in the Small Heterodimer Partner Gene and Young-Onset Type 2 Diabetes, Obesity, and Birth Weight in U.K. Subjects

article

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

Genetic association analysis of LARS2 with type 2 diabetes

artículo científico publicado en 2010

Genetic cause of hyperglycaemia and response to treatment in diabetes

artículo científico publicado en 2003

Genetic evidence of assortative mating in humans

scholarly article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

artículo científico publicado en 2009

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

artículo científico publicado en 2015

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

artículo científico publicado en 2018

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene

artículo científico publicado en 2005

Genetic risk scores in adult-onset type 1 diabetes – Authors' reply

artículo científico publicado en 2018

Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children.

artículo científico publicado en 2018

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.

artículo científico publicado en 2005

Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy

artículo científico publicado en 2003

Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index

artículo científico publicado en 2011

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight

artículo científico publicado en 2012

Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus

artículo científico publicado en 2005

Genetics and type 2 diabetes in youth

artículo científico publicado en 2007

Genome-Wide and Abdominal MRI-Imaging Data Provides Evidence that a Genetically Determined Favourable Adiposity Phenotype is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease and Hypertension

scientific article published on 23 October 2018

Genome-wide association scan allowing for epistasis in type 2 diabetes

artículo científico publicado en 2010

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

artículo científico publicado en 2009

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

article

Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

artículo científico publicado en 2018

Genome-wide associations for birth weight and correlations with adult disease

artículo científico publicado en 2016

Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion

scientific article published on 18 July 2018

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

artículo científico publicado en 2014

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene

artículo científico publicado en 2008

HNF1B deletions in patients with young-onset diabetes but no known renal disease.

artículo científico publicado en 2013

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

artículo científico

Haemochromatosis and type 2 diabetes

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease

artículo científico publicado en 2007

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

artículo científico publicado en 2017

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

artículo científico publicado en 2005

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

artículo científico publicado en 2011

Home Urine C-Peptide Creatinine Ratio Can Be Used to Monitor Islet Transplant Function: Figure 1

scientific article published on 12 March 2014

Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes.

artículo científico publicado en 2013

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

scientific article published on 03 October 2018

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

artículo científico publicado en 2010

How well do midwives estimate the date of delivery?

artículo científico publicado en 2003

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.

artículo científico publicado en 2017

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from

artículo científico publicado en 2010

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.

artículo científico publicado en 2012

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

artículo científico publicado en 2016

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

artículo científico publicado en 2008

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta

artículo científico publicado en 2009

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

scientific article published on 01 October 2018

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

artículo científico publicado en 2014

Identifying clinical criteria to predict Type 1 diabetes, as defined by absolute insulin deficiency: a systematic review protocol

artículo científico publicado en 2012

Identifying good responders to glucose lowering therapy in type 2 diabetes: implications for stratified medicine

artículo científico publicado en 2014

Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes

artículo científico publicado en 2003

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

artículo científico publicado en 2013

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

artículo científico publicado en 2009

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia

artículo científico publicado en 2011

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

artículo científico publicado en 2007

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

artículo científico publicado en 2003

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

artículo científico publicado en 2005

Insulin gene mutations as a cause of permanent neonatal diabetes

artículo científico publicado en 2007

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

article

Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus

artículo científico publicado en 2010

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms

artículo científico publicado en 2009

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach

artículo científico publicado en 2009

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

artículo científico publicado en 2016

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes

artículo científico publicado en 2006

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

artículo científico publicado en 2006

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

artículo científico publicado en 2005

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

artículo científico publicado en 2004

Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations

artículo científico publicado en 2004

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

artículo científico publicado en 2012

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

artículo científico publicado en 2003

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

artículo científico publicado en 2008

Lessons from the mixed-meal tolerance test: use of 90-minute and fasting C-peptide in pediatric diabetes

artículo científico publicado en 2012

Lifecourse: management of type 1 diabetes

artículo científico publicado en 2014

Linkage Analysis of Maturity-Onset Diabetes of the Young With Microsatellite Polymorphisms: No Linkage to ADA or GLUT2 Genes in Two Families ⬇️

artículo científico publicado el 1 de agosto de 1992

Linkage analysis of glucokinase gene with NIDDM in Caucasian pedigrees

artículo científico publicado el 1 de noviembre de 1992

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

artículo científico publicado en 2009

Linkage of type 2 diabetes to the glucokinase gene

artículo científico publicado el 30 de mayo de 1992

Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes

artículo científico publicado en 2012

Long-Term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes

artículo científico publicado en 2020

Loss of HNF1? function in human renal cell carcinoma: Frequent mutations in theVHL gene but not theHNF1? gene

article

Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2

artículo científico publicado en 2010

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes

artículo científico publicado en 2009

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

artículo científico publicado en 2015

Lower Circulating B12 Is Associated with Higher Obesity and Insulin Resistance during Pregnancy in a Non-Diabetic White British Population

artículo científico publicado en 2015

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

artículo científico publicado en 2007

Markers of β-Cell Failure Predict Poor Glycemic Response to GLP-1 Receptor Agonist Therapy in Type 2 Diabetes

artículo científico publicado en 2015

Maternal and fetal genetic contribution to gestational weight gain

article

Maternal and fetal genetic contribution to gestational weight gain.

artículo científico publicado en 2017

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

artículo científico publicado en 2019

Maternal hypothyroxinaemia in pregnancy is associated with obesity and adverse maternal metabolic parameters

artículo científico publicado en 2016

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

artículo científico publicado en 2002

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity ⬇️

artículo científico publicado el 1 de enero de 1998

Measurement of cord insulin and insulin-related peptides suggests that girls are more insulin resistant than boys at birth

artículo científico publicado en 2007

Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance

artículo científico publicado en 2011

Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome).

artículo científico publicado en 2004

Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay

artículo científico

Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility

artículo científico publicado en 2003

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

article by Sara Pulit et al published 1 January 2019 in Human Molecular Genetics

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

artículo científico publicado en 2019

Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes

artículo científico publicado en 2006

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

artículo científico publicado en 2004

Molecular genetics goes to the diabetes clinic.

artículo científico publicado en 2005

Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes

article

Monogenic Causes of Diabetes

Monogenic autoimmune diseases of the endocrine system

artículo científico publicado en 2016

Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors

artículo científico publicado en 2014

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects

artículo científico publicado en 2006

Mutations in PTF1A cause pancreatic and cerebellar agenesis

artículo científico publicado en 2004

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype

artículo científico publicado en 2008

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Mutations in the glucokinase gene of the fetus result in reduced birth weight ⬇️

artículo científico publicado el 1 de julio de 1998

Mutations in the glucokinase gene of the fetus result in reduced placental weight

artículo científico publicado en 2008

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations

artículo científico publicado en 2010

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes

artículo científico publicado en 2011

Necrobiosis lipodica is a clinical feature of maturity-onset diabetes of the young

scientific article published on 01 July 2002

Neonatal diabetes as an isolated manifestation of ipex: an expanding spectrum of disease phenotype with FOXP3 mutation

artículo científico publicado en 2015

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk

artículo científico publicado en 2016

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

artículo científico publicado en 2015

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

artículo científico publicado en 2021

Neurogenin 3 is important but not essential for pancreatic islet development in humans

artículo científico publicado en 2014

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

New genetic loci link adipose and insulin biology to body fat distribution

artículo científico publicado en 2015

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

artículo científico publicado en 2012

No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas

artículo científico publicado en 2003

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

artículo científico publicado en 2020

Optimisation of an Advanced Oxidation Protein Products Assay: Its Application to Studies of Oxidative Stress in Diabetes Mellitus

artículo científico publicado en 2015

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

artículo científico publicado en 2007

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

artículo científico publicado en 2017

Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant

artículo científico publicado en 2012

Parental diabetes and birthweight in 236 030 individuals in the UK biobank study

artículo científico publicado en 2013

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. ⬇️

artículo científico publicado en 2011

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

artículo científico publicado en 2007

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

artículo científico publicado en 2004

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

artículo científico publicado en 2004

Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism

artículo científico publicado en 2013

Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study

artículo científico publicado en 2012

Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis

artículo científico publicado en 2014

Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment

scientific article published on 13 June 2018

Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.

artículo científico publicado en 2012

Persistent C-peptide is associated with reduced hypoglycaemia but not HbA1c in adults with longstanding Type 1 diabetes: evidence for lack of intensive treatment in UK clinical practice?

artículo científico publicado en 2019

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations

artículo científico publicado en 2008

Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children

artículo científico publicado en 2010

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

artículo científico publicado en 2018

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

artículo científico publicado en 2014

Phosphodiesterase 8B Gene Polymorphism Is Associated with Subclinical Hypothyroidism in Pregnancy

article

Physiology Helps GWAS Take a Step Closer to Mechanism

artículo científico publicado en 2014

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation11The authors have no proprietary interest in the development or marketing of any device or medica

article

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes

artículo científico publicado en 2009

Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients

artículo científico publicado en 2017

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies

artículo científico publicado en 2008

Practical Classification Guidelines for Diabetes in patients treated with insulin: a cross-sectional study of the accuracy of diabetes diagnosis

artículo científico publicado en 2016

Practical implications of choice of test in National Institute for Health and Clinical Excellence (NICE) guidance for the prevention of Type 2 diabetes

artículo científico publicado en 2013

Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

scientific article published on 01 July 2020

Precision Medicine in Type 2 Diabetes: Clinical Markers of Insulin Resistance Are Associated With Altered Short- and Long-Term Glycemic Response to DPP-4 Inhibitor Therapy.

artículo científico publicado en 2018

Precision diabetes: learning from monogenic diabetes

artículo científico publicado en 2017

Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts

scientific article published on 19 June 2020

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

artículo científico publicado en 2020

Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation

artículo científico publicado en 2004

Prematurity and Genetic Testing for Neonatal Diabetes.

artículo científico publicado en 2016

Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II

article

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

artículo científico publicado en 2007

Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia

artículo científico publicado en 2014

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

artículo científico publicado en 2013

Prime suspect: the TCF7L2 gene and type 2 diabetes risk

artículo científico publicado en 2007

Processes Underlying Glycemic Deterioration in Type 2 Diabetes: An IMI DIRECT Study

scientific article published on 15 December 2020

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG?CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1?) gene which causes maturity-onset diabetes of the young (MODY)

article

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Psychiatric morbidity in children with KCNJ11 neonatal diabetes.

artículo científico publicado en 2016

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Random non-fasting C-peptide: bringing robust assessment of endogenous insulin secretion to the clinic.

artículo científico publicado en 2016

Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation

artículo científico publicado en 2006

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

artículo científico

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

artículo científico publicado en 2013

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

artículo científico publicado en 2010

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

artículo científico publicado en 2017

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

artículo científico

Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study

artículo científico publicado en 2009

Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.

artículo científico publicado en 2010

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

artículo científico publicado en 2018

Regulation of Fto/Ftm gene expression in mice and humans

artículo científico publicado en 2008

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels

artículo científico publicado en 2003

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

artículo científico publicado en 2004

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

artículo científico publicado en 2007

Reported parental age of death in type 2 diabetic patients with and without established diabetic nephropathy

Response to Comment on: Chakera et al. Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care 2012;35:1832-1834

artículo científico publicado en 2013

Response to comment on: Besser et al. Lessons from the mixed-meal tolerance test: use of 90-minute and fasting C-peptide in pediatric diabetes. Diabetes Care 2013;36:195-201.

artículo científico publicado en 2013

Response to oral gliclazide in a pre-pubertal child with hepatic nuclear factor-1 alpha maturity onset diabetes of the young ⬇️

artículo científico publicado el 1 de marzo de 2011

Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene

artículo científico publicado en 2003

Rfx6 directs islet formation and insulin production in mice and humans

artículo científico publicado en 2010

Risk of Anemia With Metformin Use in Type 2 Diabetes: A MASTERMIND Study

scientific article published on 14 August 2020

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion

artículo científico publicado en 2012

Screening for malnutrition in patients with gastro-entero-pancreatic neuroendocrine tumours: a cross-sectional study

artículo científico publicado en 2016

Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement

artículo científico publicado en 2017

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Sex and BMI Alter the Benefits and Risks of Sulfonylureas and Thiazolidinediones in Type 2 Diabetes: A Framework for Evaluating Stratification Using Routine Clinical and Individual Trial Data

Should Studies of Diabetes Treatment Stratification Correct for Baseline HbA1c?

artículo científico publicado en 2016

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

artículo científico publicado en 2002

South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people

artículo científico publicado en 2016

Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide

artículo científico publicado en 2009

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

artículo científico publicado en 2012

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

artículo científico publicado en 2016

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations

artículo científico publicado en 2006

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

artículo científico publicado en 2016

Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care

article

The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort

artículo científico publicado en 2014

The Common Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

artículo científico publicado en 2018

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

artículo científico publicado en 2016

The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology

artículo científico publicado en 2006

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

artículo científico publicado en 2013

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The accuracy of birth weight

artículo científico publicado en 2004

The association between postprandial urinary C-peptide creatinine ratio and the treatment response to liraglutide: a multi-centre observational study.

artículo científico publicado en 2013

The clinical utility of C‐peptide measurement in the care of patients with diabetes ⬇️

artículo científico publicado el 1 de julio de 2013

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

artículo científico publicado en 2008

The diagnosis and management of monogenic diabetes in children and adolescents

artículo científico publicado en 2009

The diagnosis and management of monogenic diabetes in children and adolescents

article by Oscar Rubio-Cabezas et al published September 2014 in Pediatric Diabetes

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

artículo científico publicado en 2015

The fat mass- and obesity-associated locus and dietary intake in children

artículo científico publicado en 2008

The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians

artículo científico publicado en 2006

The genetic abnormality in the beta cell determines the response to an oral glucose load

artículo científico publicado en 2002

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The impact of insulin administration during the mixed meal tolerance test

artículo científico publicado en 2012

The impact of maternal glycemia and obesity on early postnatal growth in a nondiabetic Caucasian population

artículo científico publicado en 2007

The impact of the angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in Type 2 diabetes

artículo científico publicado en 2006

The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells

artículo científico publicado en 2014

The power of genetic diversity in genome-wide association studies of lipids

The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II.

artículo científico publicado en 2017

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

artículo científico publicado en 2011

The role of genetic susceptibility in diabetic nephropathy: evidence from family studies

artículo científico publicado en 2002

The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy

artículo científico publicado en 2012

The role of the HNF4α enhancer in type 2 diabetes

artículo científico publicado en 2002

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

artículo científico publicado en 2015

Time trends and geographical variation in prescribing of drugs for diabetes in England from 1998 to 2017

article

Time trends in prescribing of type 2 diabetes drugs, glycaemic response and risk factors: A retrospective analysis of primary care data, 2010-2017

scientific article published on 04 April 2019

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect

artículo científico publicado en 2009

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans

artículo científico publicado en 2006

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

artículo científico publicado en 2016

Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020

artículo científico publicado en 2020

Type 2 Diabetes, SGLT2 Inhibitors, and Glucose Secretion

article by Andrew Tym Hattersley & Bernard Thorens published 3 September 2015 in The New England Journal of Medicine

Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals

artículo científico publicado en 2007

Type 2 diabetes risk alleles are associated with reduced size at birth

artículo científico publicado en 2009

Type II diabetes: search for primary defects

artículo científico publicado el 1 de diciembre de 1992

Underlying genetic models of inheritance in established type 2 diabetes associations

artículo científico publicado en 2009

Understanding cystic-fibrosis-related diabetes: best thought of as insulin deficiency?

artículo científico publicado en 2004

Understanding the manifestation of diabetes in sub Saharan Africa to inform therapeutic approaches and preventive strategies: a narrative review

article

Unlocking the secrets of the pancreatic beta cell: man and mouse provide the key.

artículo científico publicado en 2004

Urinary C-peptide creatinine ratio detects absolute insulin deficiency in Type 2 diabetes.

artículo científico publicado en 2013

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes

artículo científico publicado en 2011

Urine C-peptide creatinine ratio can be used to assess insulin resistance and insulin production in people without diabetes: an observational study

artículo científico publicado en 2013

Urine C-peptide creatinine ratio is a noninvasive alternative to the mixed-meal tolerance test in children and adults with type 1 diabetes ⬇️

artículo científico publicado en 2011

Urine C-peptide creatinine ratio is an alternative to stimulated serum C-peptide measurement in late-onset, insulin-treated diabetes.

artículo científico publicado en 2011

Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies

artículo científico publicado en 2013

Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes

artículo científico publicado en 2012

Validation of interstitial fluid continuous glucose monitoring in cystic fibrosis

artículo científico publicado en 2003

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

artículo científico publicado en 2010

Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population

artículo científico publicado en 2003

Variation Within the Gene Encoding the Upstream Stimulatory Factor 1 Does Not Influence Susceptibility to Type 2 Diabetes in Samples From Populations With Replicated Evidence of Linkage to Chromosome 1q

article

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Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome

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What to do with diabetes therapies when HbA1c lowering is inadequate: add, switch, or continue? A MASTERMIND study

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

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Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11.

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Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score Can Exclude Individuals With Type 1 Diabetes From Inappropriate Genetic Testing for Monogenic Diabetes

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tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

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