Associated Papers
The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.
Sharifinejad N et al.
Clinical and Experimental Immunology, 2022
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli M et al.
Gene, 2018
Pyoderma gangrenosum, acne, and suppurative hidradenitis syndrome in end-stage renal disease successfully treated with adalimumab.
De Wet J et al.
Dermatology Online Journal, 2017
Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.
Koire A et al.
Plos One, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Mevalonate kinase deficiency and IBD: shared genetic background.
Bianco AM et al.
Gut, 2014
Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.
Shim JO et al.
Journal of Human Genetics, 2014
Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?
Girardelli M et al.
International Journal of Molecular Sciences, 2014
Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
Omoyinmi E et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.
Wagner J et al.
Plos One, 2010
A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors.
Purdue MP et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007
Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort.
Do H et al.
Immunogenetics, 2006
Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
Velickovic J et al.
Autoimmunity, 0