Detalhe da pesquisa
1.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Cell
; 186(23): 5114-5134.e27, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875108
2.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Cell
; 186(3): 621-645.e33, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36736301
3.
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proc Natl Acad Sci U S A
; 120(46): e2314225120, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931111
4.
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis.
J Clin Immunol
; 43(5): 921-932, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821021
5.
Factors that influence the provision of home-based rehabilitation services for people needing rehabilitation: a qualitative evidence synthesis.
Cochrane Database Syst Rev
; 2: CD014823, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36780267
6.
A Reporting Tool for Adapted Guidelines in Health Care: The RIGHT-Ad@pt Checklist.
Ann Intern Med
; 175(5): 710-719, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286143
7.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
J Clin Immunol
; 41(3): 639-657, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417088
8.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 27(22): 3919-3935, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222290
9.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Blood
; 132(22): 2362-2374, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254128
10.
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.
J Clin Immunol
; 38(7): 794-803, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264381
11.
A Pivotal Study of Optoacoustic Imaging to Diagnose Benign and Malignant Breast Masses: A New Evaluation Tool for Radiologists.
Radiology
; 287(2): 398-412, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178816
12.
Deep immunophenotyping shows altered immune cell subsets in CTLA-4 haploinsufficiency.
Pediatr Allergy Immunol
; 34(7): e13994, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492916
13.
Optoacoustic Breast Imaging: Imaging-Pathology Correlation of Optoacoustic Features in Benign and Malignant Breast Masses.
AJR Am J Roentgenol
; 211(5): 1155-1170, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30106610
14.
Downgrading and Upgrading Gray-Scale Ultrasound BI-RADS Categories of Benign and Malignant Masses With Optoacoustics: A Pilot Study.
AJR Am J Roentgenol
; 211(3): 689-700, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29975115
15.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Proc Natl Acad Sci U S A
; 112(44): 13615-20, 2015 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483451
16.
Addressing overuse of health services in health systems: a critical interpretive synthesis.
Health Res Policy Syst
; 16(1): 48, 2018 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907158
17.
Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rß1 Deficiency.
J Clin Immunol
; 37(7): 732-738, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28865061
18.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 28(3): 524, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30329057
19.
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Hum Mol Genet
; 22(4): 769-81, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161749
20.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Blood
; 122(14): 2390-401, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23963039