Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes
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Infantile onset diabetes mellitus in developing countries - IndiaFOXP3: genetic and epigenetic implications for autoimmunityNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentGenetics and pathophysiology of neonatal diabetes mellitus.Protocol of the adaptive study of IL-2 dose frequency on regulatory T cells in type 1 diabetes (DILfrequency): a mechanistic, non-randomised, repeat dose, open-label, response-adaptive studyAutoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis.Prediction and pathogenesis in type 1 diabetes.Neonatal diabetes mellitus: a model for personalized medicineFunctional analysis of Rfx6 and mutant variants associated with neonatal diabetes.Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.Challenges in diagnosing type 1 diabetes in different populations.Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunityDiabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.The dual role of the X-linked FoxP3 gene in human cancersCurrent understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.Management of diabetes mellitus in infants.The role of the immune system in idiopathic nephrotic syndrome: a review of clinical and experimental studies.Transcriptional control of mammalian pancreas organogenesis.Searching for the Achilles Heel of FOXP3Experiments by nature: lessons on type 1 diabetes.Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy.Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Congenital forms of diabetes: the beta-cell and beyond.A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.Alternative Splicing of FOXP3-Virtue and Vice.The diagnosis and management of monogenic diabetes in children and adolescentsClinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
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P2860
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes
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 17 October 2008
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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
Clinical heterogeneity in pati ...... th permanent neonatal diabetes
@en
Clinical heterogeneity in pati ...... h permanent neonatal diabetes.
@nl
type
label
Clinical heterogeneity in pati ...... th permanent neonatal diabetes
@en
Clinical heterogeneity in pati ...... h permanent neonatal diabetes.
@nl
prefLabel
Clinical heterogeneity in pati ...... th permanent neonatal diabetes
@en
Clinical heterogeneity in pati ...... h permanent neonatal diabetes.
@nl
P2093
P2860
P50
P356
P1433
P1476
Clinical heterogeneity in pati ...... th permanent neonatal diabetes
@en
P2093
Amely Cayssials
Dorothee Deiss
Jayne A L Minton
Julian P Shield
Mathias Herr
Oscar Rubio-Cabezas
Vaughan Lewis
P2860
P304
P356
10.2337/DC08-1188
P407
P577
2008-10-17T00:00:00Z