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Lista de obras de Sarah E Flanagan

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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 ⬇️

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

An ingestible bacterial-electronic system to monitor gastrointestinal health

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2018

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

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2016

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

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

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).

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

artículo científico publicado en 2013

Familial focal congenital hyperinsulinism

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

Galactokinase deficiency in a patient with congenital hyperinsulinism

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

artículo científico publicado en 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 ⬇️

artículo científico publicado en 2011

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Heterozygous ABCC8 mutations are a cause of MODY

artículo científico publicado en 2011

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

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.

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

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

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

artículo científico publicado en 2009

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Monogenic autoimmune diseases of the endocrine system

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Mutation surveyor: software for DNA sequence analysis

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

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

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 in Wolcott–Rallison syndrome: a case report

artículo científico publicado en 2013

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

Neuropsychological impairments in children with KCNJ11 neonatal diabetes.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Nifedipine in Congenital Hyperinsulinism - A Case Report

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

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Permanent neonatal diabetes caused by a novel mutation.

artículo científico publicado en 2012

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 activating mutations in ABCC8 and KCNJ11.

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Permanent neonatal diabetes mellitus in Jordan.

artículo científico publicado en 2014

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: different aetiology in Arabs compared to Europeans.

artículo científico publicado en 2012

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

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Prematurity and Genetic Testing for Neonatal Diabetes.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 2015

Psychiatric morbidity in children with KCNJ11 neonatal diabetes.

artículo científico publicado en 2016

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

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

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia

artículo científico publicado en 2014

Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

The association of cardiac ventricular hypertrophy with congenital hyperinsulinism

artículo científico

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.

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

The heterogeneity of focal forms of congenital hyperinsulinism

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Three cases of Wolfram syndrome with different clinical aspects.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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