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1.
Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.
Mol Biol Rep
; 49(5): 3911-3918, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35229241
2.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Am J Med Genet C Semin Med Genet
; 187(3): 364-372, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34269512
3.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Genet Mol Biol
; 44(4): 20210061, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34609444
4.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet
; 184(4): 955-964, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33258288
5.
Behçet disease (BD) and BD-like clinical phenotypes: NF-κB pathway in mucosal ulcerating diseases.
Scand J Immunol
; 92(5): e12973, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32889730
6.
Differential capacity of therapeutic drugs to induce Rods/Rings structures in vitro and in vivo and generation of anti-Rods/Rings autoantibodies.
Clin Immunol
; 173: 149-156, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27746381
7.
High frequency of immunodeficiency-like states in systemic lupus erythematosus: a cross-sectional study in 300 consecutive patients.
Rheumatology (Oxford)
; 55(9): 1647-55, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27274095
8.
High mobility group box 1 serum levels are increased in Behçet's disease, but not associated with disease activity or disease manifestations.
Rheumatology (Oxford)
; 54(12): 2151-5, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26170374
9.
Behçet's disease heterogeneity: cytokine production and oxidative burst of phagocytes are altered in patients with severe manifestations.
Clin Exp Rheumatol
; 33(6 Suppl 94): S85-95, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26394190
10.
Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin.
Adv Rheumatol
; 64(1): 28, 2024 04 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38627860
11.
What General Neurologists Should Know about Autoinflammatory Syndromes?
Brain Sci
; 13(9)2023 Sep 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37759952
12.
Immunothrombosis and COVID-19 â a nested post-hoc analysis from a 3186 patient cohort in a Latin American public reference hospital.
Clinics (Sao Paulo)
; 78: 100178, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37187129
13.
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Front Immunol
; 14: 1190104, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37600812
14.
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Sci Rep
; 12(1): 7764, 2022 05 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35546177
15.
A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.
Front Immunol
; 12: 721289, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34858394
16.
Perception of usefulness of laboratory tests ordering by internal medicine residents in ambulatory setting: A single-center prospective cohort study.
PLoS One
; 16(5): e0250769, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33974629
17.
Use and misuse of biomarkers and the role of D-dimer and C-reactive protein in the management of COVID-19: A post-hoc analysis of a prospective cohort study.
Clinics (Sao Paulo)
; 76: e3547, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34909913
18.
Remodeling of the Immune Response With Aging: Immunosenescence and Its Potential Impact on COVID-19 Immune Response.
Front Immunol
; 11: 1748, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32849623
19.
Understanding Behçet's Disease in the Context of Innate Immunity Activation.
Front Immunol
; 11: 586558, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33193413
20.
Functional Defect of Neutrophils Causing Dermatophytosis: Case Report.
J Fungi (Basel)
; 6(4)2020 Oct 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33105551