Detalhe da pesquisa
1.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell;
187(2): 390-408.e23, 2024 01 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38157855
2.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell;
2024 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38776920
3.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet;
110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36528028
4.
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Genes Immun;
24(4): 207-214, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37516813
5.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol;
256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37741518
6.
SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.
Blood;
137(10): 1340-1352, 2021 03 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33227812
7.
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Scand J Immunol;
97(5): e13264, 2023 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37368332
8.
Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.
Pediatr Allergy Immunol;
34(7): e13990, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37492921
9.
selectBoost: a general algorithm to enhance the performance of variable selection methods.
Bioinformatics;
37(5): 659-668, 2021 05 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33016991
10.
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Mov Disord;
37(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34820905
11.
Inactivation of Osteoblast PKC Signaling Reduces Cortical Bone Mass and Density and Aggravates Renal Osteodystrophy in Mice with Chronic Kidney Disease on High Phosphate Diet.
Int J Mol Sci;
23(12)2022 Jun 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35742850
12.
A Translational Investigation of IFN-α and STAT1 Signaling in Endothelial Cells during Septic Shock Provides Therapeutic Perspectives.
Am J Respir Cell Mol Biol;
65(2): 167-175, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33798037
13.
Aryl hydrocarbon receptor (Ahr)-dependent Il-22 expression by type 3 innate lymphoid cells control of acute joint inflammation.
J Cell Mol Med;
25(10): 4721-4731, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33734594
14.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet;
110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36868207
15.
NKG2D ligands in inflammatory joint diseases: analysis in human samples and mouse models.
Clin Exp Rheumatol;
39(5): 982-987, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33427619
16.
A FcɣRIIa polymorphism has a HLA-B57 and HLA-B27 independent effect on HIV disease outcome.
Genes Immun;
21(4): 263-268, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32759994
17.
HLA*LA-HLA typing from linearly projected graph alignments.
Bioinformatics;
35(21): 4394-4396, 2019 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30942877
18.
An unusually high substitution rate in transplant-associated BK polyomavirus in vivo is further concentrated in HLA-C-bound viral peptides.
PLoS Pathog;
14(10): e1007368, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30335851
19.
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
BMC Med Genet;
21(1): 182, 2020 09 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32943010
20.
A new MHC-linked susceptibility locus for primary Sjögren's syndrome: MICA.
Hum Mol Genet;
26(13): 2565-2576, 2017 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28379387