Detalhe da pesquisa
1.
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Blood
; 140(17): 1858-1874, 2022 10 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35789258
2.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37316189
3.
Prognostic role of diuretic failure in determining mortality for patients hospitalized with acute decompensated heart failure.
Heart Vessels
; 37(8): 1373-1379, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35178605
4.
Inborn errors of immunity manifesting as atopic disorders.
J Allergy Clin Immunol
; 148(5): 1130-1139, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34428518
5.
Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.
J Allergy Clin Immunol
; 148(6): 1559-1574.e13, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33872653
6.
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
BMC Pediatr
; 21(1): 45, 2021 01 21.
Artigo
Inglês
| MEDLINE | ID: mdl-33472608
7.
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
J Clin Immunol
; 40(2): 267-276, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31853824
8.
Germline CBM-opathies: From immunodeficiency to atopy.
J Allergy Clin Immunol
; 143(5): 1661-1673, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31060714
9.
Granzyme B Deficiency Protects against Angiotensin II-Induced Cardiac Fibrosis.
Am J Pathol
; 186(1): 87-100, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26610869
10.
Granzyme B inhibits keratinocyte migration by disrupting epidermal growth factor receptor (EGFR)-mediated signaling.
Biol Chem
; 397(9): 883-95, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27060743
11.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
HGG Adv
; 5(1): 100259, 2024 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38041405
12.
The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Pediatr Allergy Immunol
; 29(6): 663-668, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29808493
13.
Rare diseases of epigenetic origin: Challenges and opportunities.
Front Genet
; 14: 1113086, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36814905
14.
Transcription factor defects in inborn errors of immunity with atopy.
Front Allergy
; 4: 1237852, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37727514
15.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
J Exp Med
; 220(5)2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36884218
16.
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
JCI Insight
; 7(24)2022 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36546480
17.
MALT1-Dependent Cleavage of HOIL1 Modulates Canonical NF-κB Signaling and Inflammatory Responsiveness.
Front Immunol
; 12: 749794, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34721419
18.
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Allergy Asthma Clin Immunol
; 17(1): 9, 2021 Jan 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33446255
19.
Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32532880
20.
A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.
Mitochondrion
; 46: 298-301, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30114489