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List of works by Sarah Flanagan

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

scientific article published on 5 May 2009

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

scientific article published on 20 March 2017

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

scientific article

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

scientific article published on 16 May 2016

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant

scientific article published on January 2014

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

scientific article

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

scientific article

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

scientific article

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

scientific article published on 7 February 2018

AB128. Neonatal diabetes mellitus: genotype, phenotype and outcome.

scientific article

AB132. Neonatal diabetes in Wolcott-Rallison syndrome: a case report.

scientific article published in September 2015

Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.

scientific article

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

scientific article

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

scientific article

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

scientific article

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 ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression ⬇️

scientific article published on 30 June 2017

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism

scientific article published on 17 October 2007

An In-Frame Deletion in Kir6.2 (KCNJ11) Causing Neonatal Diabetes Reveals a Site of Interaction between Kir6.2 and SUR1.

scientific article

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

scientific article

An ingestible bacterial-electronic system to monitor gastrointestinal health

scientific article published on 01 May 2018

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

scientific article

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

scientific article published on January 2014

Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!

scientific article published on July 2014

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells

scientific article published on 9 June 2017

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

scientific article published on 12 August 2015

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

scientific article published on December 2015

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.

scientific article published in January 2011

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

scientific article published on 3 January 2017

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

scientific article

Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea

scientific article published on 01 October 2013

Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia

scientific article published on 01 November 2014

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism

scientific article published on 18 December 2015

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea

scientific article published on 26 April 2016

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations

scientific article published on 08 September 2014

Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children

scientific article published on 30 June 2012

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

scientific article published on 15 March 2013

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age

scientific article published on 29 January 2013

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

scientific article published on 9 March 2015

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations

scientific article published on 31 March 2014

Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell

scientific article published on 01 January 2011

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation

scientific article published on 22 March 2017

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

scientific article published on 6 February 2013

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy

scientific article published on 14 May 2016

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

scientific article published on 30 October 2018

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

scientific article published on 12 June 2008

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

scientific article published on February 2013

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia

scientific article published on 20 September 2018

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F Mutation

scientific article published on 29 March 2018

Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene

scientific article published on 01 September 2011

Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks

scientific article published on 9 March 2010

Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene

scientific article published on November 2014

Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra

scientific article published in November 2013

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

scientific article published on 01 February 2012

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

scientific article published on December 2016

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

scientific article published on 01 March 2019

Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis

scientific article published on 01 August 2018

Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation

scientific article published on 28 April 2015

Differentiation measures for conservation genetics

scientific article published on 29 January 2018

Does integrated care reduce hospital activity for patients with chronic diseases? An umbrella review of systematic reviews

scientific article

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

scientific article

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

scientific article published on 19 November 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

Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia

scientific article published on 01 November 2015

Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).

scientific article

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

scientific article published on 5 January 2018

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

scientific article

Familial focal congenital hyperinsulinism

scientific article published on 13 October 2010

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment

scientific article published on 13 January 2017

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death

scientific article published on 20 March 2018

Focal congenital hyperinsulinism in a patient with septo-optic dysplasia

scientific article published on 14 September 2010

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

scientific article published on 2 April 2014

GATA6 haploinsufficiency causes pancreatic agenesis in humans

scientific article

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

scientific article published on 6 December 2012

Galactokinase deficiency in a patient with congenital hyperinsulinism

scientific article

Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.

scientific article

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

scientific article published on 12 January 2018

Genetics of congenital hyperinsulinemic hypoglycemia

scientific article published on February 2011

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees ⬇️

scientific article

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia

scientific article

Guidelines for planning genomic assessment and monitoring of locally adaptive variation to inform species conservation

scientific article published on 02 December 2017

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months

scientific article published on 01 June 2006

HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response

scientific article published in March 2014

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

scientific article published on 20 December 2012

Heterozygous ABCC8 mutations are a cause of MODY

scientific article published on 12 October 2011

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

scientific article published on 12 October 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

scientific article published in March 2005

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

scientific article published on 03 October 2018

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

scientific article published on 7 February 2017

Hyperinsulinaemic hypoglycaemia.

scientific article published on 04 February 2009

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

scientific article published on 07 March 2019

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

scientific article published on 17 March 2020

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

scientific article published on 18 August 2009

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

scientific article published on 31 October 2012

Identification of mutations in the Kir6.2 subunit of the K(ATP) channel

scientific article

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

scientific article published on 15 June 2013

Improving safety in care homes: protocol for evaluation of the Walsall and Wolverhampton care home improvement programme

scientific article

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

scientific article

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

scientific article published on 3 June 2009

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

scholarly article

Increased Plasma Incretin Concentrations Identifies a Subset of Patients with Persistent Congenital Hyperinsulinism without KATP Channel Gene Defects

article

Insulin gene mutations as a cause of permanent neonatal diabetes

scholarly article

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

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

scientific article published on 18 December 2009

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

scientific article published on 09 June 2016

KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life

scientific article published on 10 October 2011

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

scientific article

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort

scientific article published on 5 February 2015

Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy

scientific article published on 17 June 2014

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations

scientific article published on 08 September 2016

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

scientific article published on 16 January 2018

Molecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism.

scientific article published on 3 October 2013

Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism

scientific article published on 28 April 2015

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

scientific article published on 28 November 2017

Monogenic autoimmune diseases of the endocrine system

scientific article

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy

scientific article published on 17 October 2007

Mutation surveyor: software for DNA sequence analysis

scientific article published in January 2011

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations

scientific article

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

article

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

scientific article

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

scientific article published on 2 April 2013

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

scientific article published on 15 July 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

scientific article

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

scientific article

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

scientific article published on 24 July 2015

Neonatal diabetes in Wolcott–Rallison syndrome: a case report

scientific article published on 3 October 2013

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

scientific article published on 01 April 2021

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

scientific article published on 14 August 2014

Neuropsychological impairments in children with KCNJ11 neonatal diabetes.

scientific article

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

scientific article

Nifedipine in Congenital Hyperinsulinism - A Case Report

scientific article

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

scientific article published on 27 February 2007

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism

scientific article (publication date: 2014)

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia

scientific article published on 07 October 2011

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

scientific article published on 8 November 2013

Permanent neonatal diabetes caused by a novel mutation

scientific article published in June 2012

Permanent neonatal diabetes caused by a novel mutation in the INS gene

scientific article published on 27 October 2012

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

scientific article

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

scientific article published on September 2010

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

scientific article published on 9 March 2018

Permanent neonatal diabetes mellitus in Jordan.

scientific article published in September 2014

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

scientific article published on 22 September 2014

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

scientific article

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

scientific article published on 15 February 2018

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

scientific article

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

scientific article published on 3 April 2017

Population genomics reveals multiple drivers of population differentiation in a sex-role-reversed pipefish

scientific article published on 3 August 2016

Prematurity and Genetic Testing for Neonatal Diabetes.

scientific article published on 18 August 2016

Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation

scientific article published on 5 April 2013

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

scientific article published on 9 January 2007

Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family

scientific article

Psychiatric morbidity in children with KCNJ11 neonatal diabetes.

scientific article published on 18 April 2016

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

scientific article published on 27 February 2012

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

scientific article

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

scientific article

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

scientific article published on 4 May 2017

Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome

scientific article published on 08 October 2019

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

scientific article published on 02 June 2012

SavvyCNV: Genome-wide CNV calling from off-target reads

scientific article published on 16 March 2022

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

scientific article

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology

scientific article published on 08 January 2010

Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males

scientific article published on 01 October 2021

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report

scientific article

Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.

scientific article

Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia

scientific article published in March 2014

Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia

scientific article published on 8 December 2017

Substantial differences in bias between single-digest and double-digest RAD-seq libraries: A case study

scientific article

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

scientific article published on 31 March 2016

Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days

scientific article published on 02 March 2007

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

scientific article

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

scientific article published in August 2006

The association of cardiac ventricular hypertrophy with congenital hyperinsulinism

scientific article published on 15 August 2012

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism

article

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

scientific article published on 28 July 2015

The effectiveness of integrated care interventions in improving patient quality of life (QoL) for patients with chronic conditions. An overview of the systematic review evidence.

scientific article published on 29 September 2017

The effectiveness of interventions to achieve co-ordinated multidisciplinary care and reduce hospital use for people with chronic diseases: study protocol for a systematic review of reviews.

scientific article published on 8 May 2015

The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.

scientific article published in January 2014

The heterogeneity of focal forms of congenital hyperinsulinism

scientific article published on 26 October 2011

Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest

scientific article published on 19 March 2013

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings

scientific article published on 4 January 2013

Three cases of Wolfram syndrome with different clinical aspects.

scientific article published in March 2015

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

scientific article published on 12 May 2009

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.

scientific article published on January 2013

Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy

scientific article published on 12 June 2008

Trends in Methyl tert-Butyl Ether Concentrations in Private Wells in Southeast New Hampshire: 2005 to 2015.

scientific article published on 11 January 2017

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

scientific article published on 05 April 2016

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

scientific article published on 08 October 2020

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

scientific article published on 29 October 2019

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

scientific article published on February 2009

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

scientific article published on 06 February 2020

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

scientific article published on August 2010

Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation

scientific article published on 01 January 2012

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

scientific article published on 16 October 2009

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