Detalhe da pesquisa
1.
TNFRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome.
Clin Exp Rheumatol
; 41(10): 1998-2007, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470237
2.
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Hum Mutat
; 43(12): 1732-1744, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842788
3.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868845
4.
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Clin Chem
; 66(4): 525-536, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176780
5.
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.
J Assist Reprod Genet
; 37(9): 2273-2277, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592075
6.
A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients.
Pharmacogenomics J
; 19(4): 368-374, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30647443
7.
Classification criteria for autoinflammatory recurrent fevers.
Ann Rheum Dis
; 78(8): 1025-1032, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018962
8.
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
J Med Genet
; 55(8): 530-537, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599418
9.
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Crit Rev Clin Lab Sci
; 55(6): 432-442, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30035647
10.
Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.
Ann Rheum Dis
; 77(11): 1558-1565, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100561
11.
Correspondence on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'.
Ann Rheum Dis
; 82(10): e218, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33298408
12.
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
13.
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Hum Mutat
; 37(1): 7-15, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26443184
14.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302555
15.
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
16.
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Ann Rheum Dis
; 74(5): 799-805, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637003
17.
Comment on: Familial Mediterranean fever: breaking all the (genetic) rules.
Rheumatology (Oxford)
; 59(2): 452, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903165
18.
First report of MEFV gene duplication in a patient with familial Mediterranean fever.
Clin Exp Rheumatol
; 38 Suppl 127(5): 129-130, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331269
19.
Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study.
J Am Acad Dermatol
; 83(6): 1794-1798, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283244
20.
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Am J Hum Genet
; 89(3): 451-8, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21885028