SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)

Known as: Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies, Granulomatosis, familial, Blau type, EOS 
An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1963-2018
010203019632018

Papers overview

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2012
2012
Mammalian Nod2 is an intracellular protein that is implicated in the innate immune response to the bacterial cell wall and is… (More)
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Highly Cited
2008
Highly Cited
2008
BACKGROUND Voxel-based analysis of diffusion tensor magnetic resonance imaging (DTI) data was used to examine white matter… (More)
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2007
Highly Cited
2007
OBJECTIVE Blau syndrome and early-onset sarcoidosis are NOD2 gene-associated chronic autoinflammatory diseases characterized by… (More)
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2006
2006
OBJECTIVE Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic… (More)
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Highly Cited
2005
Highly Cited
2005
Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset… (More)
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Highly Cited
2005
Highly Cited
2005
Nod2 is an intracellular sensor of a specific bacterial cell wall component, muramyl dipeptide, and activation of Nod2 stimulates… (More)
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2005
2005
Patients with sporadic early-onset granulomatous arthritis are clinically identical to Blau syndrome, but without the family… (More)
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2005
2005
The caspase recruitment domain gene CARD15/NOD2, encoding a cellular receptor involved in an NF-κB-mediated pathway of innate… (More)
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Highly Cited
2004
Highly Cited
2004
Multiple genetic variants of CARD15/NOD2 have been associated with susceptibility to Crohn's disease and Blau syndrome. NOD2… (More)
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Highly Cited
2001
Highly Cited
2001
We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German… (More)
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