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.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
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.
Blood flow diverts extracellular vesicles from endothelial degradative compartments to promote angiogenesis.
EMBO Rep
; 24(12): e57042, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37971863
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Investigating Chemokine-Matrix Networks in Breast Cancer: Tenascin-C Sets the Tone for CCL2.
Int J Mol Sci
; 24(9)2023 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37176074
11.
Fc receptors and the diversity of antibody responses to HIV infection and vaccination.
Genes Immun
; 23(5): 149-156, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688931
12.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
13.
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
14.
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
15.
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
16.
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
17.
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
18.
HLA*LA-HLA typing from linearly projected graph alignments.
Bioinformatics
; 35(21): 4394-4396, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30942877
19.
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
20.
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