Associated Papers
Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.
Chang SY et al.
Pediatric Rheumatology Online Journal, 2022
Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.
Azab B et al.
Genes, 2022
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
Parackova Z et al.
Journal of Clinical Immunology, 2020
Ocular Features in Chinese Patients with Blau Syndrome.
Wu S et al.
Ocular Immunology and Inflammation, 2020
Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication.
Galozzi P et al.
Frontiers in Immunology, 2017
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
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Parkhouse R et al.
Febs Letters, 2014
Blau syndrome, clinical and genetic aspects.
Sfriso P et al.
Autoimmunity Reviews, 2012
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.
Xiang H et al.
Molecular Vision, 2012
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
Villanueva-Mendoza C et al.
Ophthalmic Genetics, 2010
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome.
Akil I et al.
Pediatric Nephrology (berlin, Germany), 2010
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
A new CARD15 mutation in Blau syndrome.
van Duist MM et al.
European Journal of Human Genetics : Ejhg, 2005
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members.
Milman N et al.
Scandinavian Journal of Rheumatology, 0
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