Detalhe da pesquisa
1.
Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.
Mol Biol Rep
; 49(5): 3911-3918, 2022 May.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258288
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27746381
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26170374
7.
Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin.
Adv Rheumatol
; 64(1): 28, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627860
8.
What General Neurologists Should Know about Autoinflammatory Syndromes?
Brain Sci
; 13(9)2023 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37759952
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37187129
10.
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Front Immunol
; 14: 1190104, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600812
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546177
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34858394
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974629
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34909913
15.
Remodeling of the Immune Response With Aging: Immunosenescence and Its Potential Impact on COVID-19 Immune Response.
Front Immunol
; 11: 1748, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32849623
16.
Immunothrombosis and COVID-19 ‒ a nested post-hoc analysis from a 3186 patient cohort in a Latin American public reference hospital
Clinics
; 78: 100178, 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1447987
17.
Patient with agammaglobulinemia produces anti-SARS-CoV-2 reactive T-cells after CoronaVac vaccine.
Clinics (Sao Paulo)
; 77: 100007, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172269
18.
Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.
Sao Paulo Med J
; 140(5): 734-736, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36102462
19.
Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease.
Arthritis Res Ther
; 19(1): 235, 2017 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052524
20.
Primary immunodeficiency association with systemic lupus erythematosus: review of literature and lessons learned by the Rheumatology Division of a tertiary university hospital at São Paulo, Brazil.
Rev Bras Reumatol Engl Ed
; 56(1): 58-68, 2016.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-27267335