Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.
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Mitochondrial diabetes in children: seek and you will find itPathogenesis of the metabolic syndrome: insights from monogenic disordersMonogenic diabetes and pregnancySelective actions of mitochondrial fission/fusion genes on metabolism-secretion coupling in insulin-releasing cellsMitochondrial metabolism and diabetesRapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic PatientsPearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroupsA novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafnessGenomic imprinting in diabetes.A family with diabetes and heart failure.Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.Mitochondrial dysfunction in patients with primary congenital insulin resistance.Genetics of type 2 diabetes-pitfalls and possibilities.Vacant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy and diabetes mellitus.Searching for "monogenic diabetes" in dogs using a candidate gene approachPhenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approachWhen to consider a diagnosis of MODY at the presentation of diabetes: aetiology matters for correct management.The clinical utility of C-peptide measurement in the care of patients with diabetesSudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsEndocrine disorders in mitochondrial disease.Monogenic diabetes: a diagnostic algorithm for cliniciansMELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.Mitochondrial disease and endocrine dysfunction.Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.Diabetes and nephrotic syndrome: Answers.Truth is a daughter of time: a case of MELAS diagnosed 25 years after initial manifestation.Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report.Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceLearning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes.RD Lawrence lecture 2012: assessing aetiology in diabetes: how C-peptide, CRP and fucosylation came to the party!Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.Reply to: mitochondrial diabetes in Germany and Austria.Ptosis as an associated finding in maternally inherited diabetes and deafness.Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism.Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake.Mitochondrial disease: an uncommon but important cause of diabetes mellitusMonogenic Causes of Diabetes
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Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 18 February 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Clinical features, diagnosis a ...... mitochondrial point mutation.
@en
Clinical features, diagnosis a ...... mitochondrial point mutation.
@nl
type
label
Clinical features, diagnosis a ...... mitochondrial point mutation.
@en
Clinical features, diagnosis a ...... mitochondrial point mutation.
@nl
prefLabel
Clinical features, diagnosis a ...... mitochondrial point mutation.
@en
Clinical features, diagnosis a ...... mitochondrial point mutation.
@nl
P2093
P2860
P1433
P1476
Clinical features, diagnosis a ...... mitochondrial point mutation.
@en
P2093
A T Hattersley
D M Turnbull
P2860
P304
P356
10.1111/J.1464-5491.2008.02359.X
P577
2008-02-18T00:00:00Z