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Lista de obras de Sian Ellard

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

article

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications

artículo científico publicado en 2008

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

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

artículo científico publicado en 2014

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 comparative study of the use of primary Chinese hamster liver cultures and genetically engineered immortal V79 Chinese hamster cell lines expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays.

artículo científico publicado en 1993

A comparison of methods for EGFR mutation testing in non-small cell lung cancer

artículo científico publicado en 2013

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.

artículo científico publicado en 2011

A family with a novel TSH receptor activating germline mutation (p.Ala485Val).

artículo científico publicado en 2008

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

artículo científico publicado en 2008

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

artículo científico publicado en 2009

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

artículo científico publicado en 2006

A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria

artículo científico publicado en 2000

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young

artículo científico publicado en 1997

A modified protocol for the cytochalasin B in vitro micronucleus assay using whole human blood or separated lymphocyte cultures

scientific article published on 01 July 1993

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

artículo científico publicado en 2013

A novel KCNJ11 mutation associated with transient neonatal diabetes

artículo científico publicado en 2017

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

artículo científico publicado en 2007

A pathway to insulin independence in newborns and infants with diabetes

artículo científico publicado en 2011

A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes

artículo científico publicado en 1997

A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1alpha mutation

scientific article published on 01 March 2000

A study of the aneugenic activity of trichlorfon detected by centromere-specific probes in human lymphoblastoid cell lines.

artículo científico publicado en 1996

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

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

AIP mutation in pituitary adenomas in the 18th century and today

artículo científico publicado en 2011

AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience

artículo científico publicado en 2016

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

artículo científico publicado en 2000

Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.

artículo científico publicado en 2002

Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.

artículo científico publicado en 2004

Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia

artículo científico publicado en 2013

Activating Mutations in the KCNJ11 Gene Encoding the ATP-Sensitive K+ Channel Subunit Kir6.2 Are Rare in Clinically Defined Type 1 Diabetes Diagnosed Before 2 Years

article

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

artículo científico publicado en 2014

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation

artículo científico publicado en 2008

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Alagille syndrome: pathogenesis, diagnosis and management

artículo científico publicado en 2012

Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young

artículo científico publicado en 1999

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

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

Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies

artículo científico publicado en 2000

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 exome sequencing strategy to diagnose lethal autosomal recessive disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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 investigation into the activation and deactivation of chlorinated hydrocarbons to genotoxins in metabolically competent human cells.

artículo científico publicado en 1996

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

artículo científico publicado en 2016

Analysis of gross deletions in theMEN1gene in patients with multiple endocrine neoplasia type 1

artículo científico publicado en 2007

Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction

artículo científico publicado en 2005

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

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

artículo científico publicado en 2012

Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes

artículo científico publicado en 2003

Asian MODY: are we missing an important diagnosis?

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations

artículo científico publicado en 2013

Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred

artículo científico publicado en 2006

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

article

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

artículo científico publicado en 2013

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

Biomonitoring study of a group of workers potentially exposed to traffic fumes

artículo científico publicado en 1997

C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes

artículo científico publicado en 1998

CNTNAP1: Extending the phenotype of congenital hypomyelinating neuropathy in 6 further patients

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

artículo científico publicado en 2017

Cellular and chromosomal hypersensitivity to DNA crosslinking agents and topoisomerase inhibitors in the radiosensitive Chinese hamster irs mutants: phenotypic similarities to ataxia telangiectasia and Fanconi's anaemia cells.

artículo científico publicado en 1993

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

artículo científico publicado en 2010

Childhood presentation of COL4A1 mutations

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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 Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India

artículo científico publicado en 2017

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 applications of next-generation sequencing: the 2013 human genome variation society scientific meeting

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 characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

article by Ronen Spiegel et al published 30 September 2011 in American Journal of Medical Genetics

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 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

Clinical utility gene card for: Maturity-onset diabetes of the young

artículo científico publicado en 2014

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

scientific article published on 14 May 2016

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 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

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

artículo científico publicado en 2002

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

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study

artículo científico publicado en 2008

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

artículo científico publicado en 2000

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 as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

scientific article published on 15 June 2018

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

artículo científico publicado en 2010

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

scientific article published on 01 February 2012

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Correction: Reinauer et al., The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146.

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Cushing Syndrome Secondary to a Thymic Carcinoid Tumor Due to Multiple Endocrine Neoplasia Type 1

artículo científico publicado en 2011

DWP6-4 Novel hepatocyte nuclear factor 4-alpha (HNF4A) promoter mutation in a New Zealand family

article

Defining the genetic aetiology of monogenic diabetes can improve treatment

artículo científico publicado en 2006

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing

artículo científico publicado en 2005

Detection of clonal T cell populations by high resolution PCR using fluorescently labelled nucleotides; evaluation using conventional LIS-SSCP.

artículo científico publicado en 2000

Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation

artículo científico publicado en 2007

Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options

scientific article published on 18 September 2013

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

artículo científico publicado en 2008

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

artículo científico publicado en 2017

Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center

artículo científico publicado en 2015

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-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

artículo científico publicado en 2010

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 a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans

artículo científico publicado en 2011

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

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

artículo científico publicado en 2011

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

article

Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride

artículo científico publicado en 2012

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

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

article

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

artículo científico publicado en 2018

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

artículo científico publicado en 2003

Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology

artículo científico publicado en 2009

Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2011

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

artículo científico publicado en 2017

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

artículo científico publicado en 2015

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

article

Fainting Fanconi syndrome clarified by proxy: a case report

artículo científico publicado en 2017

Familial focal congenital hyperinsulinism

artículo científico publicado en 2010

Fanconi-Bickel syndrome - mutation in SLC2A2 gene

artículo científico publicado en 2014

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

Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR products

artículo científico publicado en 2000

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

scientific article published on 01 June 2002

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes

artículo científico publicado en 2007

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

GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey

artículo científico publicado en 2016

Galactokinase deficiency in a patient with congenital hyperinsulinism

artículo científico publicado en 2011

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

artículo científico publicado en 2008

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms

artículo científico publicado en 2010

Genetic Testing in Diabetes Mellitus

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

Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma

artículo científico publicado en 2012

Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.

artículo científico publicado en 1998

Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes

artículo científico

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

artículo científico publicado en 2011

Genomic variant sharing: a position statement

artículo científico publicado en 2019

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia

artículo científico publicado en 2015

Germline mutations in theCDKN1Bgene encoding p27Kip1are a rare cause of multiple endocrine neoplasia type 1

artículo científico publicado en 2009

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

artículo científico publicado en 2016

Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes

artículo científico publicado en 2001

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

artículo científico publicado en 2011

Growth-hormone treatment and risk of diabetes

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2014

Haemochromatosis and type 2 diabetes

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay

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

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

artículo científico publicado en 2007

Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.

artículo científico publicado en 2002

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

artículo científico publicado en 2014

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

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

artículo científico publicado en 2011

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

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

artículo científico publicado en 2008

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations

artículo científico publicado en 2011

Hyperinsulinaemic hypoglycaemia.

scientific article published on 04 February 2009

Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings

artículo científico publicado en 2016

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

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

artículo científico publicado en 2008

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

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 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

artículo científico publicado en 2003

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

article published in 2011

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

artículo científico publicado en 2013

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans

artículo científico publicado en 2009

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.

artículo científico publicado en 2012

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

In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets

artículo científico publicado en 2010

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

artículo científico publicado en 2011

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

artículo científico publicado en 2017

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

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

article

Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Increased sterigmatocystin-induced mutation frequency in Saccharomyces cerevisiae expressing cytochrome P450 CYP2B1

artículo científico publicado en 1992

Induction of micronuclei in V79 Chinese hamster cells by hydroquinone and econazole nitrate

artículo científico publicado en 1993

Insights from Monogenic Diabetes

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

artículo científico publicado en 2003

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

scientific journal article

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

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

artículo científico publicado en 2009

Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

artículo científico publicado en 2011

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

scientific article published on 10 October 2011

KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes

artículo científico publicado en 2010

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 cause both transient and permanent neonatal diabetes mellitus in Cypriot patients

artículo científico publicado en 2011

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

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 prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease

artículo científico publicado en 2007

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

artículo científico publicado en 2018

MODY in Ukraine: genes, clinical phenotypes and treatment

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Many patients have an identifiable genetic cause of Hirschsprung's disease

artículo científico publicado en 2012

Maturity onset diabetes of the young: identification and diagnosis

artículo científico

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

article by B. M. Shields et al published 25 May 2010 in Diabetologia

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

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

Misannotation of multiple-nucleotide variants risks misdiagnosis

scientific article published on 01 October 2019

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes

artículo científico publicado en 1999

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

article

Molecular predictive factors in patients receiving trastuzumab-based chemotherapy for metastatic disease

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation

scientific article published on 04 November 2010

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

artículo científico publicado en 2007

Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation

artículo científico publicado en 2001

Mutated MESP2 causes spondylocostal dysostosis in humans

artículo científico publicado en 2004

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

artículo científico publicado en 2013

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

article

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

artículo científico publicado en 2007

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

artículo científico publicado en 2021

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype

artículo científico publicado en 2006

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.

artículo científico publicado en 1998

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

artículo científico publicado en 2005

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 ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

artículo científico publicado en 2007

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome

artículo científico publicado en 2008

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 genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

artículo científico publicado en 2006

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young

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

artículo científico publicado en 2013

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-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

artículo científico publicado en 2001

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 in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

artículo científico publicado en 2000

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: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

artículo científico publicado en 2017

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 an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring

artículo científico publicado en 2014

Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

artículo científico publicado en 2014

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

artículo científico publicado en 2012

No Evidence for Linkage at Candidate Type 2 Diabetes Susceptibility Loci on Chromosomes 12 and 20 in United Kingdom Caucasians

artículo científico publicado en 2000

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

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing

scientific article published on 01 September 1999

Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2)

scientific article published on 01 October 2003

Observations�Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus

artículo científico publicado en 2001

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

artículo científico publicado en 2007

P37 Phenotype in E410K beta-tubulin isotype 3 mutations: striking facial weakness and other extraocular manifestations in addition to CFEOM

article

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

artículo científico publicado en 2010

Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.

artículo científico publicado en 1999

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia

scientific article published on 07 October 2011

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

article

Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia

artículo científico publicado en 2011

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

artículo científico publicado en 2013

Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Permanent neonatal diabetes caused by a novel mutation

artículo científico publicado en 2012

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

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 a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene

article

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

artículo científico publicado en 2010

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 an Asian infant.

artículo científico publicado en 2005

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 and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

artículo científico publicado en 2018

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy

artículo científico publicado en 2008

Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.

artículo científico publicado en 2012

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report

artículo científico publicado en 2014

Permanent neonatal diabetes mellitus in Jordan

artículo científico publicado en 2014

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: different aetiology in Arabs compared to Europeans

artículo científico publicado en 2012

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

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

artículo científico publicado en 2018

Phenotypic Multiple Endocrine Neoplasia Type 2B, Without Endocrinopathy or RET Gene Mutation: Implications for Management

artículo científico publicado en 2006

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

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

Predictive genetic testing in maturity-onset diabetes of the young (MODY).

artículo científico publicado en 2001

Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation

artículo científico publicado en 2009

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

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

artículo científico publicado en 2013

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

artículo científico publicado en 2008

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

artículo científico publicado en 2008

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

Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome

artículo científico publicado en 2013

Prospective functional classification of all possible missense variants in PPARG.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

artículo científico publicado en 2004

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

artículo científico publicado en 2011

Quantitation of cyclin D1 over-expression using competitive fluorescent reverse transcription polymerase chain reaction: a tool for the differential diagnosis of mantle cell lymphoma

artículo científico publicado en 2003

R127W in HNF4? is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family

artículo científico publicado en 2000

RET gene mutations are not a common cause of congenital solitary functioning kidney in adults

artículo científico publicado en 2009

Randomized trial of two intravenous schedules of the topoisomerase I inhibitor liposomal lurtotecan in women with relapsed epithelial ovarian cancer: a trial of the national cancer institute of Canada clinical trials group.

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

Reclassification of diabetes etiology in a family with multiple diabetes phenotypes

artículo científico publicado en 2014

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

artículo científico

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome

artículo científico publicado en 2008

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

artículo científico publicado en 2009

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

scientific article published on 08 October 2019

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

artículo científico publicado en 2005

Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer"

artículo científico publicado en 2018

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

artículo científico publicado en 2003

Risk category system to identify pituitary adenoma patients with AIP mutations

artículo científico publicado en 2018

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

artículo científico publicado en 2012

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

artículo científico publicado en 2016

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

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

artículo científico publicado en 2009

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

artículo científico publicado en 2011

Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene

artículo científico publicado en 2002

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism

artículo científico publicado en 2009

Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene

artículo científico publicado en 2008

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

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

Skeletal phenotype in mandibulo-acral dysplasia associated with ZMPSTE24 mutations and the effects of bisphosphonate treatment

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

artículo científico publicado en 2002

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management

artículo científico publicado en 2016

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

Spondylocostal dysostosis associated with methylmalonic aciduria

artículo científico publicado en 2009

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom

artículo científico publicado en 2001

Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort

artículo científico publicado en 2015

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

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

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

artículo científico publicado en 2007

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

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young

artículo científico publicado en 2012

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

artículo científico publicado en 2018

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 Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

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

artículo científico publicado en 2014

The expression of cytochrome P450IIB1 in Saccharomyces cerevisiae results in an increased mutation frequency when exposed to cyclophosphamide.

artículo científico publicado en 1989

The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.

artículo científico publicado en 2001

The heterogeneity of focal forms of congenital hyperinsulinism

artículo científico publicado en 2011

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

artículo científico publicado en 2005

The laminopathies: a clinical review

artículo científico publicado en 2006

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

artículo científico publicado en 2005

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 renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene

artículo científico publicado en 2010

The use of genetically engineered V79 Chinese hamster cultures expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays.

artículo científico publicado en 1991

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

artículo científico publicado en 2015

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

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

artículo científico publicado en 2007

Transcription factor HNF1beta and novel partners affect nephrogenesis

artículo científico publicado en 2008

Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

artículo científico publicado en 2009

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

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

artículo científico publicado en 2010

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation

scientific article published on 14 July 2015

Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation

artículo científico publicado en 2013

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

artículo científico publicado en 2015

Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD)

artículo científico publicado en 2009

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

artículo científico publicado en 2017

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome

artículo científico publicado en 2008

Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene

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

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

scientific article published on 01 November 2018

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

artículo científico publicado en 2013

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy

artículo científico publicado en 2015

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