Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
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Structural Properties of Gene Promoters Highlight More than Two Phenotypes of DiabetesMaturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?New insights from monogenic diabetes for "common" type 2 diabetesUndiagnosed MODY: Time for ActionPrecision diabetes: learning from monogenic diabetes.Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.A diagnostic approach for defining idiopathic remitting diabetes: a retrospective cohort study.Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing.Genetic Counseling for Diabetes Mellitus.Reclassification of diabetes etiology in a family with multiple diabetes phenotypesActivating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.An integrated cell purification and genomics strategy reveals multiple regulators of pancreas development.Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutationsIdentification and Clinical Characterization of Adult Patients with Multigenerational Diabetes MellitusPersonalized medicine in diabetes mellitus: current opportunities and future prospectsExpanding the Clinical Spectrum Associated With GLIS3 Mutations.Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approachThe effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 DiabetesNext-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese PopulationIsolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Prospective functional classification of all possible missense variants in PPARG.Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.Monogenic diabetes: Implementation of translational genomic research towards precision medicine.Genetic Factors of Diabetes.Challenges for molecular diagnosis of familial early-onset diabetes in unexplored populations.GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.Cohort Profile: Scottish Diabetes Research Network Type 1 Bioresource Study (SDRNT1BIO).A single dose of dapagliflozin, an SGLT-2 inhibitor, induces higher glycosuria in GCK- and HNF1A-MODY than in type 2 diabetes mellitus.Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 15 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Improved genetic testing for m ...... ed next-generation sequencing.
@en
Improved genetic testing for m ...... ed next-generation sequencing.
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type
label
Improved genetic testing for m ...... ed next-generation sequencing.
@en
Improved genetic testing for m ...... ed next-generation sequencing.
@nl
prefLabel
Improved genetic testing for m ...... ed next-generation sequencing.
@en
Improved genetic testing for m ...... ed next-generation sequencing.
@nl
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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
@en
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E De Franco
J A L Houghton
K Colclough
M Shepherd
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P2888
P304
P356
10.1007/S00125-013-2962-5
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2013-06-15T00:00:00Z