Associated Papers
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN et al.
Journal of Clinical Immunology, 2023
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Wyatt RC et al.
Journal of Clinical Immunology, 2023
36600150 (PubMed )
Supplement: 10875_2022_1428_MOESM1_ESM.docx
A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathy.
Tan L et al.
Molecular Genetics & Genomic Medicine, 2022
Atypical Presentations of IPEX: Expect the Unexpected.
Consonni F et al.
Frontiers in Pediatrics, 2021
IPEX as a Consequence of Alternatively Spliced FOXP3.
Mailer RK
Frontiers in Pediatrics, 2020
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E et al.
Frontiers in Immunology, 2018
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
d'Hennezel E et al.
Journal of Medical Genetics, 2012
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Barzaghi F et al.
Frontiers in Immunology, 2012
Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Burroughs LM et al.
The Journal of Allergy and Clinical Immunology, 2010
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
Harbuz R et al.
Prenatal Diagnosis, 2010
Select a paper to view details