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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.
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
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38627860
8.
What General Neurologists Should Know about Autoinflammatory Syndromes?
Brain Sci;
13(9)2023 Sep 21.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés, Portugués
| MEDLINE | ID: mdl-27267335