Detalhe da pesquisa
1.
Colchicine to prevent sympathetic denervation after acute myocardial infarction: the COLD-MI trial.
Eur Heart J
; 45(9): 725-727, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38289979
2.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Ann Rheum Dis
; 76(7): 1191-1198, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27965258
3.
PSMB10, the last immunoproteasome gene missing for PRAAS.
J Allergy Clin Immunol
; 145(3): 1015-1017.e6, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783057
4.
Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.
Ann Rheum Dis
; 73(1): 290-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505244
5.
Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.
Hum Mol Genet
; 18(24): 4746-55, 2009 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755381
6.
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Sci Rep
; 11(1): 4172, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603056
7.
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
Eur J Hum Genet
; 16(11): 1404-6, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18648395
8.
Distinct regions of RPB11 are required for heterodimerization with RPB3 in human and yeast RNA polymerase II.
Nucleic Acids Res
; 33(11): 3582-90, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15987790
9.
Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.
Mol Genet Genomic Med
; 5(2): 110-116, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28361096
10.
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Expert Rev Clin Immunol
; 11(7): 827-35, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25979514
11.
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Am J Pharmacogenomics
; 4(2): 109-18, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15059033