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1.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37741518
2.
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
J Allergy Clin Immunol
; 136(5): 1337-45, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26025129
3.
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
J Hum Genet
; 59(1): 57-9, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24225993
4.
Evaluation of health related quality of life in children with immune thrombocytopenia with the PedsQL™ 4.0 Generic Core Scales: a study on behalf of the pays de Loire pediatric hematology network.
Health Qual Life Outcomes
; 11: 193, 2013 Nov 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-24225051
5.
Factors associated with poor prognosis of hip arthritis in juvenile idiopathic arthritis: Data from the JIR cohort.
Musculoskeletal Care
; 21(3): 806-814, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36896923
6.
Multisystem inflammatory syndrome in children during the COVID-19 waves: data from the Juvenile Inflammatory Rheumatism cohort.
Front Pediatr
; 11: 1126985, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37292378
7.
Individual and environmental determinants associated with longer times to access pediatric rheumatology centers for patients with juvenile idiopathic arthritis, a JIR cohort study.
Pediatr Rheumatol Online J
; 21(1): 24, 2023 Mar 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36918902
8.
Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?
Am J Med Genet A
; 158A(7): 1754-8, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22678748
9.
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study.
Joint Bone Spine
; 89(1): 105270, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34534690
10.
Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review.
Front Immunol
; 12: 744780, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34858402
11.
Etanercept concentration and immunogenicity do not influence the response to Etanercept in patients with juvenile idiopathic arthritis.
Semin Arthritis Rheum
; 48(6): 1014-1018, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30396593
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