Detalhe da pesquisa
1.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
2.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Rheumatology (Oxford)
; 59(2): 344-360, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31325311
3.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Blood
; 132(22): 2362-2374, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254128
4.
Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome.
Neurol Sci
; 41(3): 705-708, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828676
5.
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.
J Clin Immunol
; 39(5): 476-485, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144250
6.
Type I interferon pathway activation in COPA syndrome.
Clin Immunol
; 187: 33-36, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29030294
7.
Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicentre, prospective, randomised, open-label trial.
Lancet
; 389(10072): 909-916, 2017 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28162781
8.
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.
Ann Rheum Dis
; 76(10): 1648-1656, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28522451
9.
Critical role of STIR MRI in early detection of post-streptococcal periostitis with dysproteinaemia (Goldbloom's syndrome).
Clin Exp Rheumatol
; 35(3): 516-517, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28339360
10.
Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.
Rheumatology (Oxford)
; 55(7): 1325-35, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989109
11.
Juvenile eosinophilic fasciitis: three case reports with review of the literature.
Clin Exp Rheumatol
; 34(3): 527-30, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27268780
12.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Rheumatology (Oxford)
; 59(2): 458, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410474
13.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
14.
Whole-body MRI in the assessment of disease activity in juvenile dermatomyositis.
Ann Rheum Dis
; 73(6): 1083-90, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636654
15.
Long-term efficacy of interleukin-1 receptor antagonist (anakinra) in corticosteroid-dependent and colchicine-resistant recurrent pericarditis.
J Pediatr
; 164(6): 1425-31.e1, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24630353
16.
Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23.
Clin Exp Rheumatol
; 37 Suppl 121(6): 163, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31287399
17.
Cytomegalovirus-related necrotising vasculitis mimicking Henoch-Schönlein syndrome.
Clin Exp Rheumatol
; 32(3 Suppl 82): S73-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24854375
18.
High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).
Ann Rheum Dis
; 77(8): 1241-1243, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866646
19.
Recurrent pericarditis in Myhre syndrome.
Am J Med Genet A
; 161A(5): 1164-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23610053
20.
Primary red ear syndrome associated with cochleo-vestibular symptomatology: a paediatric case report.
Cephalalgia
; 33(15): 1277-80, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23800828