Detalhe da pesquisa
1.
Effects of itraconazole and carbamazepine on the pharmacokinetics of nirmatrelvir/ritonavir in healthy adults.
Br J Clin Pharmacol;
89(9): 2867-2876, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37184075
2.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat;
41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31898846
3.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Neuropediatrics;
51(3): 178-184, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31779033
4.
Machine learning identifies an immunological pattern associated with multiple juvenile idiopathic arthritis subtypes.
Ann Rheum Dis;
78(5): 617-628, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30862608
5.
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
J Allergy Clin Immunol;
140(2): 543-552.e5, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28087229
6.
A novel kindred with inherited STAT2 deficiency and severe viral illness.
J Allergy Clin Immunol;
139(6): 1995-1997.e9, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28087227
7.
Mutant ADA2 in vasculopathies.
N Engl J Med;
371(5): 478-9, 2014 07 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25075846
8.
Mutant ADA2 in vasculopathies.
N Engl J Med;
371(5): 480, 2014 07 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25075848
9.
Metabolism and Excretion of Nirmatrelvir in Humans Using Quantitative Fluorine Nuclear Magnetic Resonance Spectroscopy: A Novel Approach for Accelerating Drug Development.
Clin Pharmacol Ther;
112(6): 1201-1206, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35678736
10.
Innovative Randomized Phase I Study and Dosing Regimen Selection to Accelerate and Inform Pivotal COVID-19 Trial of Nirmatrelvir.
Clin Pharmacol Ther;
112(1): 101-111, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35388471
11.
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.
J Allergy Clin Immunol;
135(1): 283-7.e5, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25457153
12.
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.
J Allergy Clin Immunol;
134(5): 1209-13.e6, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25042743
13.
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.
Pediatrics;
142(3)2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30139808
14.
Brief Report: Blockade of TANK-Binding Kinase 1/IKKÉ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.
Arthritis Rheumatol;
69(7): 1495-1501, 2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28426911
15.
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.
Sci Transl Med;
8(332): 332ra45, 2016 Mar 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27030597
16.
Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.
Arthritis Rheumatol;
67(6): 1592-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25777993
17.
Olmsted syndrome: exploration of the immunological phenotype.
Orphanet J Rare Dis;
8: 79, 2013 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23692804