Associated Papers
Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.
Wu S et al.
The Journal of Allergy and Clinical Immunology, 2025
Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.
Williamson KA et al.
Frontiers in Immunology, 2024
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Horowitz JE et al.
Scientific Reports, 2021
33692434 (PubMed )
Supplement: 41598_2021_84938_MOESM2_ESM.xlsx › Table_S3
Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.
Guzel F et al.
Frontiers in Immunology, 2021
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28640243 (PubMed )
Supplement: gim201768x1.xlsx › All
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.
Caso F et al.
Rmd Open, 2015
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA et al.
Nature Genetics, 2011
Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.
Lappalainen M et al.
Inflammatory Bowel Diseases, 2008
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.
Milman N et al.
The Clinical Respiratory Journal, 2007
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
Hugot JP et al.
Nature, 2001
Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea.
Tronstad RR et al.
Scandinavian Journal of Gastroenterology, 0
[Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia].
Parra Izquierdo V et al.
Revista De Gastroenterologia Del Peru : Organo Oficial De La Sociedad De Gastroenterologia Del Peru, 0
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