Associated Papers
Clinical relevance of mosaic variants detected by exome sequencing.
Ghosh R et al.
The Journal of Allergy and Clinical Immunology, 2026
Case report and review of the literature: a unique presentation of Blau syndrome in a Palestinian family.
Subhi Hnaihen S et al.
Frontiers in Pediatrics, 2025
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
Brichova M et al.
Genes, 2024
Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.
Zhang J et al.
Arthritis Research & Therapy, 2024
Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.
Wang Z et al.
International Journal of Rheumatic Diseases, 2023
Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.
Yao F et al.
Frontiers in Pediatrics, 2023
Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.
Chang SY et al.
Pediatric Rheumatology Online Journal, 2022
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Mao L et al.
Frontiers in Immunology, 2022
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.
Rodrigues FG et al.
Ophthalmic Genetics, 2021
Ocular Features in Chinese Patients with Blau Syndrome.
Wu S et al.
Ocular Immunology and Inflammation, 2020
Identification and functional characterization of polymorphisms in promoter sequences of porcine NOD1 and NOD2 genes.
Domínguez MA et al.
Research in Veterinary Science, 2019
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant.
Arvesen KB et al.
Acta Dermato-venereologica, 2017
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.
Mensa-Vilaro A et al.
Arthritis & Rheumatology (hoboken, N.j.), 2016
Somatic NOD2 mosaicism in Blau syndrome.
de Inocencio J et al.
The Journal of Allergy and Clinical Immunology, 2015
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
Functional P2X7 receptor polymorphisms (His155Tyr, Arg307Gln, Glu496Ala) in patients with Crohn's disease.
Haas SL et al.
Scandinavian Journal of Immunology, 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
Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
Velickovic J et al.
Autoimmunity, 0