about
Rfx6 directs islet formation and insulin production in mice and humansComparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effectsConfirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based studyA novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association studyA genome-wide association study identifies novel risk loci for type 2 diabetesNeonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndromeGenome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populationsA genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated lociAssessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetesFollow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.New applications of microarray data analysis: integrating genetics with 'Omics'. Organized by the Cambridge Healthtech Institute, 15-17 August 2007, Washington DC, USA.The TCF7L2 locus and type 1 diabetesFrom disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.The type I diabetes association of the IL2RA locus.Remapping the type I diabetes association of the CTLA4 locusUnexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomasSomatic point mutations occurring early in development: a monozygotic twin study.No association of type 1 diabetes with a functional polymorphism of the LRAP gene.A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.Yeast one-hybrid screen of a thymus epithelial library identifies ZBTB7A as a regulator of thymic insulin expressionDRB1*0401-restricted human T cell clone specific for the major proinsulin73-90 epitope expresses a down-regulatory T helper 2 phenotype.Impact of the human genome project on pediatric endocrinology.New insights into the genetics of neonatal diabetes.Mechanisms of genetic susceptibility to type I diabetes: beyond HLA.The effect of the MHC locus on autoantibodies in type 1 diabetesAssociation of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies.Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.Immunogenetics of type 1 diabetes.Association analysis of type 2 diabetes Loci in type 1 diabetes.Genome-wide search for exonic variants affecting translational efficiencyAdvances in type I diabetes associated tolerance mechanisms.The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.Common and rare alleles as causes of complex phenotypes.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Expression profile of a clonal insulin-expressing epithelial cell in the thymus.Exome sequencing: dual role as a discovery and diagnostic tool.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Functional evaluation of the role of C-type lectin domain family 16A at the chromosome 16p13 locus.
P50
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P50
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Constantin Polychronakos
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Constantin Polychronakos
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Constantin Polychronakos
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Constantin Polychronakos
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Constantin Polychronakos
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Constantin Polychronakos
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Constantin Polychronakos
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P106
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0000-0002-7624-6635