Incomplete penetrance of theNOD2E383K substitution among members of a pediatric granulomatous arthritis pedigree-Reference-Cited by-同舟云学术

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Incomplete penetrance of theNOD2E383K substitution among members of a pediatric granulomatous arthritis pedigree

Published:2009-06 Issue:6 Volume:60 Page:1804-1806
ISSN:0004-3591
Container-title:Arthritis & Rheumatism
language:en
Short-container-title:Arthritis Rheum

Author:

Saulsbury Frank T.,Wouters Carine H.,Martin Tammy M.,Austin Carrie R.,Doyle Trudy M.,Goodwin Kelly A.,Rosé Carlos D.

Publisher

Wiley

Subject

Pharmacology (medical),Immunology,Rheumatology,Immunology and Allergy

Reference8 articles.

1. CARD15 mutations in Blau syndrome;Miceli-Richard;Nat Genet,2001

2. Early onset sarcoidosis and CARD 15 mutations with constitutive nuclear factor κB activation: common genetic etiology with Blau syndrome;Kanazawa;Blood,2005

3. Pediatric granulomatous arthritis: an international registry;Rose;Arthritis Rheum,2006

4. NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort;Arostegui;Arthritis Rheum,2007

5. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy;Wang;Arthritis Rheum,2002

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1. Proteomic Profiling of Tears in Blau Syndrome Patients in Identification of Potential Disease Biomarkers;International Journal of Molecular Sciences;2024-08-01

2. Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome;Pediatric Rheumatology;2022-10-03

3. Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India;Frontiers in Immunology;2022-09-15

4. 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;Genes;2022-05-29

5. Clinical and Laboratory Parameters of Autoinflammatory Disorders in Single Tertiary Care Center;Iranian Journal of Allergy, Asthma and Immunology;2022-04-17

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