Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
Amino acid sequence homology of monoclonal serum free light chain dimers and tissue deposited light chains in AL amyloidosis: a pilot study.
Clin Chem Lab Med
; 62(3): 464-471, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747270
3.
Amyloid Typing in Cardiac Amyloidosis Using Western Blotting.
Isr Med Assoc J
; 26(3): 149-156, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493325
4.
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.
J Clin Immunol
; 43(3): 625-635, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36474126
5.
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
J Clin Immunol
; 44(1): 4, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112969
6.
Intrarenal Anti-Leptin Treatment Attenuates Ischemia and Reperfusion Injury.
Am J Nephrol
; 54(7-8): 337-348, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231766
7.
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.
Eur J Pediatr
; 181(5): 1997-2004, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35118517
8.
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.
Clin Exp Immunol
; 206(1): 56-67, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114647
9.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501153
10.
Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
Genes Immun
; 21(5): 326-334, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32921793
11.
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
Clin Immunol
; 214: 108376, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32135276
12.
A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
J Clin Immunol
; 40(1): 211-222, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31838659
13.
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Pediatr Blood Cancer
; 67(6): e28237, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277798
14.
The Duffy antigen receptor for chemokines, ACKR1,- 'Jeanne DARC' of benign neutropenia.
Br J Haematol
; 184(4): 497-507, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30592023
15.
Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.
J Clin Immunol
; 39(4): 401-413, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037583
16.
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
Pediatr Res
; 86(5): 603-607, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31288248
17.
Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.
Immunol Invest
; 48(4): 431-439, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689480
18.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.
J Immunol
; 199(12): 4036-4045, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127144
19.
Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
J Clin Immunol
; 38(6): 711, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30099695
20.
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
J Clin Immunol
; 38(6): 699-710, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030704